Variant report

Variant	nsv981157
Chromosome Location	chr6:74227071-74229370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:366)
CpG islands
(count:123)
Chromatin interactive
region (count:40)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:74223582-74227326	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr6:74223027-74227283	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr6:74224132-74227284	GM12878	blood:	n/a	n/a
4	ATF2	chr6:74223511-74227267	GM12878	blood:	n/a	n/a
5	ATF2	chr6:74227875-74228154	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:74228218-74228746	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:74228836-74231752	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:74227536-74227830	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr6:74228218-74228738	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr6:74228830-74231217	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr6:74224585-74227221	K562	blood:	n/a	n/a
12	BCL11A	chr6:74228659-74228983	GM12878	blood:	n/a	n/a
13	BCL3	chr6:74228924-74229438	A549	lung:	n/a	n/a
14	BCL3	chr6:74222830-74227353	A549	lung:	n/a	chr6:74225019-74225028
15	BCL3	chr6:74226663-74227237	A549	lung:	n/a	n/a
16	BCLAF1	chr6:74229113-74231158	K562	blood:	n/a	chr6:74231062-74231071 chr6:74229921-74229930 chr6:74230508-74230521 chr6:74230340-74230353
17	BCLAF1	chr6:74226133-74227294	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:74223687-74227131	K562	blood:	n/a	chr6:74225019-74225028
19	BCLAF1	chr6:74229154-74231862	GM12878	blood:	n/a	chr6:74231341-74231350 chr6:74231062-74231071 chr6:74229921-74229930 chr6:74230508-74230521 chr6:74230340-74230353
20	BCLAF1	chr6:74224877-74227237	GM12878	blood:	n/a	chr6:74225019-74225028
21	BCLAF1	chr6:74222884-74227078	K562	blood:	n/a	chr6:74225019-74225028
22	BCLAF1	chr6:74229168-74229668	GM12878	blood:	n/a	n/a
23	BCLAF1	chr6:74229173-74231221	K562	blood:	n/a	chr6:74231062-74231071 chr6:74229921-74229930 chr6:74230508-74230521 chr6:74230340-74230353
24	CCNT2	chr6:74228965-74229297	K562	blood:	n/a	n/a
25	CEBPB	chr6:74226696-74227136	K562	blood:	n/a	n/a
26	CEBPB	chr6:74226597-74227128	K562	blood:	n/a	n/a
27	CEBPD	chr6:74223568-74227200	K562	blood:	n/a	n/a
28	CHD1	chr6:74228954-74232231	GM12878	blood:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
29	CHD1	chr6:74226333-74227230	GM12878	blood:	n/a	n/a
30	CHD1	chr6:74228853-74232500	IMR90	lung:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
31	CHD1	chr6:74227555-74228758	IMR90	lung:	n/a	n/a
32	CHD1	chr6:74223770-74231935	H1-hESC	embryonic stem cell:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
33	CHD2	chr6:74228154-74231629	H1-hESC	embryonic stem cell:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
34	CHD2	chr6:74229219-74231771	K562	blood:	n/a	chr6:74230887-74230897 chr6:74229942-74229952
35	CHD2	chr6:74222624-74227334	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr6:74227747-74227942	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr6:74223194-74227282	GM12878	blood:	n/a	n/a
38	CREB1	chr6:74223597-74227231	K562	blood:	n/a	n/a
39	CREB1	chr6:74229130-74232130	K562	blood:	n/a	chr6:74231556-74231569
40	CTCF	chr6:74228439-74228491	Lung_OC	lung:	n/a	n/a
41	CTCF	chr6:74228923-74229152	T-47D	breast:	n/a	n/a
42	CTCF	chr6:74227923-74227971	Kidney_OC	kidney:	n/a	n/a
43	ELK1	chr6:74226459-74227185	K562	blood:	n/a	n/a
44	EP300	chr6:74229321-74229524	GM12878	blood:	n/a	n/a
45	EP300	chr6:74228880-74229169	T-47D	breast:	n/a	n/a
46	ETS1	chr6:74226426-74227326	A549	lung:	n/a	n/a
47	ETS1	chr6:74229081-74231266	A549	lung:	n/a	chr6:74229333-74229340 chr6:74230340-74230351
48	FOSL2	chr6:74227903-74228701	HepG2	liver:	n/a	n/a
49	FOXM1	chr6:74229120-74231517	GM12878	blood:	n/a	n/a
50	GATA2	chr6:74227161-74229373	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:74229257-74229307	T-47D	breast:	n/a
2	chr6:74229257-74229307	T-47D	breast:	n/a
3	chr6:74229257-74229307	A549	lung:	n/a
4	chr6:74227212-74227262	CMK	blood:	n/a
5	chr6:74229257-74229307	NT2-D1	testis:	n/a
6	chr6:74227212-74227262	HIPEpiC	eye:	n/a
7	chr6:74229257-74229307	SK-N-SH_RA	brain:	n/a
8	chr6:74229257-74229307	HRPEpiC	eye:	n/a
9	chr6:74229257-74229307	AoSMC	blood vessel:	n/a
10	chr6:74229257-74229307	Hepatocyte	liver:	n/a
11	chr6:74229257-74229307	HL-60	blood:	n/a
12	chr6:74229257-74229307	SK-N-SH	brain:	n/a
13	chr6:74227212-74227262	ECC-1	luminal epithelium:	n/a
14	chr6:74229257-74229307	SK-N-MC	brain:	n/a
15	chr6:74227212-74227262	NT2-D1	testis:	n/a
16	chr6:74227212-74227262	HRE	kidney:	n/a
17	chr6:74229257-74229307	HIPEpiC	eye:	n/a
18	chr6:74229257-74229307	GM19239	blood:	n/a
19	chr6:74227212-74227262	K562	blood:	n/a
20	chr6:74229257-74229307	HMEC	breast:	n/a
21	chr6:74227212-74227262	PrEC	prostate:	n/a
22	chr6:74227212-74227262	H1-hESC	embryonic stem cell:	embryo
23	chr6:74227212-74227262	SK-N-SH_RA	brain:	n/a
24	chr6:74227212-74227262	GM06990	blood:	n/a
25	chr6:74227212-74227262	HCM	heart:	n/a
26	chr6:74227212-74227262	AG10803	skin:	n/a
27	chr6:74229257-74229307	Caco-2	colon:	n/a
28	chr6:74227212-74227262	HMEC	breast:	n/a
29	chr6:74229257-74229307	HepG2	liver:	n/a
30	chr6:74227212-74227262	A549	lung:	n/a
31	chr6:74229257-74229307	BE2_C	brain:	n/a
32	chr6:74227212-74227262	GM12892	blood:	n/a
33	chr6:74229257-74229307	GM06990	blood:	n/a
34	chr6:74227212-74227262	HRPEpiC	eye:	n/a
35	chr6:74229257-74229307	ProgFib	skin:	n/a
36	chr6:74229257-74229307	LNCaP	prostate:	n/a
37	chr6:74229257-74229307	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:74229257-74229307	ovcar-3	ovarian:	n/a
39	chr6:74227212-74227262	T-47D	breast:	n/a
40	chr6:74227212-74227262	AG09309	skin:	n/a
41	chr6:74229257-74229307	H1-hESC	embryonic stem cell:	embryo
42	chr6:74227212-74227262	HNPCEpiC	eye:	n/a
43	chr6:74229257-74229307	NB4	blood:	n/a
44	chr6:74227212-74227262	AoSMC	blood vessel:	n/a
45	chr6:74229257-74229307	GM12878	blood:	n/a
46	chr6:74227212-74227262	SKMC	muscle:	n/a
47	chr6:74227212-74227262	NB4	blood:	n/a
48	chr6:74227212-74227262	SK-N-SH	brain:	n/a
49	chr6:74229257-74229307	PFSK-1	brain:	n/a
50	chr6:74227212-74227262	HEEpiC	esophagus:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65596519..65597400-chr6:74229078..74229977,2	Hela-S3	cervix:
2	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
3	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
4	chr6:74228702..74232744-chr6:74360665..74366385,13	MCF-7	breast:
5	chr6:74224731..74227421-chr6:74361806..74363965,4	MCF-7	breast:
6	chr6:74189673..74193242-chr6:74229143..74231708,4	MCF-7	breast:
7	chr6:74157393..74162572-chr6:74229200..74231801,6	MCF-7	breast:
8	chr6:74228897..74233348-chr6:76310739..76313863,5	K562	blood:
9	chr19:12900751..12902436-chr6:74228731..74231614,2	MCF-7	breast:
10	chr6:37400721..37403243-chr6:74228826..74231547,2	K562	blood:
11	chr6:74225719..74228474-chr6:74264854..74267464,2	K562	blood:
12	chr6:74209113..74211687-chr6:74224027..74227100,3	MCF-7	breast:
13	chr6:74229165..74233433-chr6:74353361..74356645,5	MCF-7	breast:
14	chr12:6647578..6648244-chr6:74227102..74227727,2	Hela-S3	cervix:
15	chr6:74169658..74172596-chr6:74225769..74229058,3	MCF-7	breast:
16	chr20:26188395..26190565-chr6:74228700..74231505,2	MCF-7	breast:
17	chr6:74207658..74210612-chr6:74224071..74227518,3	K562	blood:
18	chr6:74225345..74228338-chr6:74268407..74270549,2	K562	blood:
19	chr6:74169192..74174230-chr6:74229143..74231785,9	K562	blood:
20	chr17:26970205..26972815-chr6:74228570..74230969,2	MCF-7	breast:
21	chr6:26157792..26158299-chr6:74226967..74227662,2	Hela-S3	cervix:
22	chr6:74018617..74020402-chr6:74229038..74231578,2	K562	blood:
23	chr6:74136453..74139092-chr6:74226309..74227871,2	K562	blood:
24	chr6:74229352..74231539-chr6:75915151..75917818,2	MCF-7	breast:
25	chr6:74170147..74173171-chr6:74228405..74233047,5	K562	blood:
26	chr6:74222886..74227431-chr6:74328724..74331054,7	K562	blood:
27	chr6:74225295..74227678-chr6:74405377..74406988,2	MCF-7	breast:
28	chr6:74225322..74227120-chr6:74304460..74305982,2	K562	blood:
29	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
30	chr6:74222064..74227666-chr6:74315829..74323019,13	MCF-7	breast:
31	chr6:26030908..26032458-chr6:74228984..74230943,2	K562	blood:
32	chr6:74171683..74173790-chr6:74225512..74227822,2	MCF-7	breast:
33	chr5:175814751..175816394-chr6:74229187..74232142,2	MCF-7	breast:
34	chr6:74169360..74174580-chr6:74228668..74231530,6	MCF-7	breast:
35	chr16:75271441..75274374-chr6:74228830..74231678,2	MCF-7	breast:
36	chr6:74224257..74227085-chr6:74333037..74337394,5	K562	blood:
37	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
38	chr6:74225495..74228323-chr6:74275867..74278333,2	MCF-7	breast:
39	chr6:74229302..74231632-chr8:103666566..103668459,2	MCF-7	breast:
40	chr6:74160323..74161865-chr6:74226774..74228460,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MB21D1-3	chr6:74225475-74227579	NONHSAT113566

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	EEF1A1	hsa-miR-197-3p	chr6:74227488-74227509
2	EEF1A1	hsa-miR-17-5p	chr6:74227364-74227387
3	EEF1A1	hsa-miR-93-5p	chr6:74227364-74227386
4	EEF1A1	hsa-miR-26b-5p	chr6:74227289-74227309

Variant related genes	Relation type
EEF1A1	TF binding region
ENSG00000229862	TF binding region
EEF1A1	CpG island
ENSG00000229862	CpG island
ENSG00000111799	chromatin interactions
ENSG00000135297	chromatin interactions
ENSG00000218459	chromatin interactions
ENSG00000156535	chromatin interactions
ENSG00000135314	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000207023	chromatin interactions
ENSG00000007202	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000048162	chromatin interactions
ENSG00000119899	chromatin interactions
ENSG00000146066	chromatin interactions
ENSG00000231652	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000164430	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000112701	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000137200	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545545535	chr6:74227106-74227107	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs557676047	chr6:74227107-74227108	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs187523336	chr6:74227126-74227127	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs139915867	chr6:74227142-74227143	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs192629107	chr6:74227173-74227174	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs372200470	chr6:74227199-74227200	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs115224400	chr6:74227202-74227203	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs528878907	chr6:74227228-74227229	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs541067582	chr6:74227234-74227235	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs560084399	chr6:74227246-74227247	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs185622540	chr6:74227303-74227304	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	Overlapped CNVs	n/a
12	rs113013917	chr6:74227317-74227318	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs570171124	chr6:74227338-74227339	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs531007027	chr6:74227380-74227381	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	Overlapped CNVs	n/a
15	rs369399951	chr6:74227382-74227383	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	Overlapped CNVs	n/a
16	rs549190139	chr6:74227483-74227484	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs201959385	chr6:74227517-74227518	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs534691194	chr6:74227560-74227561	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs552998475	chr6:74227563-74227564	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs202207658	chr6:74227581-74227582	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs375571173	chr6:74227620-74227621	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs539362323	chr6:74227640-74227641	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs74551705	chr6:74227661-74227662	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs530302960	chr6:74227662-74227663	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs79096499	chr6:74227663-74227664	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs557903705	chr6:74227671-74227672	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs375564518	chr6:74227680-74227681	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs369101246	chr6:74227681-74227682	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs576134698	chr6:74227689-74227690	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs368386743	chr6:74227711-74227712	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs143955203	chr6:74227732-74227733	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs374374947	chr6:74227741-74227742	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs377711365	chr6:74227762-74227763	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200265404	chr6:74227782-74227783	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs201583180	chr6:74227829-74227830	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs200344550	chr6:74227835-74227836	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs2882585	chr6:74227873-74227874	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs201275258	chr6:74227915-74227916	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs199819622	chr6:74227919-74227920	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs11556677	chr6:74227940-74227941	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs559401377	chr6:74227943-74227944	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs11550843	chr6:74227945-74227946	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs200704078	chr6:74227952-74227953	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375746023	chr6:74227960-74227961	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs2351124	chr6:74227967-74227968	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190893068	chr6:74227973-74227974	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs370108040	chr6:74227995-74227996	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs1874229	chr6:74228006-74228007	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs377638284	chr6:74228011-74228012	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs189179228	chr6:74228041-74228042	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:74214000-74228000	Weak transcription	Right Ventricle	heart
4	chr6:74224200-74228000	Strong transcription	Left Ventricle	heart
5	chr6:74224200-74228600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:74224200-74229000	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr6:74224200-74229000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:74224200-74229200	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr6:74224400-74228400	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:74224400-74228400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr6:74224600-74227200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
12	chr6:74224600-74227200	Strong transcription	Lung	lung
13	chr6:74224600-74227200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr6:74224600-74227400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:74224600-74227800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:74224600-74228000	Genic enhancers	Colon Smooth Muscle	Colon
17	chr6:74224600-74228400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:74224600-74228400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:74224600-74229000	Genic enhancers	Primary B cells from cord blood	blood
20	chr6:74224600-74229000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:74224600-74230600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
22	chr6:74224800-74227200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr6:74224800-74228400	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr6:74224800-74229000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:74224800-74230600	Transcr. at gene 5' and 3'	A549	lung
26	chr6:74225000-74227200	Genic enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:74225000-74227200	Transcr. at gene 5' and 3'	NHLF	lung
28	chr6:74225000-74228200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:74225000-74228400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:74225000-74228400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr6:74225000-74228400	Genic enhancers	Brain Anterior Caudate	brain
32	chr6:74225000-74228400	Genic enhancers	Brain Substantia Nigra	brain
33	chr6:74225000-74228400	Strong transcription	Esophagus	oesophagus
34	chr6:74225000-74228400	Genic enhancers	Rectal Smooth Muscle	rectum
35	chr6:74225000-74229000	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:74225000-74230000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:74225000-74230000	Transcr. at gene 5' and 3'	NH-A	brain
38	chr6:74225000-74231600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:74225200-74227200	Genic enhancers	Brain Angular Gyrus	brain
40	chr6:74225200-74227800	Weak transcription	Right Atrium	heart
41	chr6:74225200-74228400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:74225200-74228400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:74225400-74227200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
44	chr6:74225400-74227200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:74225400-74227800	Strong transcription	Fetal Thymus	thymus
46	chr6:74225400-74228400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:74225400-74228400	Strong transcription	Brain Germinal Matrix	brain
48	chr6:74225600-74227200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
49	chr6:74225600-74227800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:74225600-74230000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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