Variant report

Variant	esv3358166
Chromosome Location	chr6:149771284-149774132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:488)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:149771870-149772280	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr6:149771895-149772095	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:149773526-149773769	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr6:149773402-149773753	ECC-1	luminal epithelium:	n/a	n/a
5	CHD2	chr6:149771773-149772058	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr6:149772508-149772792	Hela-S3	cervix:	n/a	chr6:149772657-149772667
7	E2F6	chr6:149771661-149772189	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr6:149771598-149772236	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr6:149773322-149773993	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr6:149773317-149773816	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr6:149773364-149773816	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr6:149773436-149773808	ECC-1	luminal epithelium:	n/a	n/a
13	ESR1	chr6:149773497-149773699	ECC-1	luminal epithelium:	n/a	n/a
14	GABPA	chr6:149771740-149772160	H1-hESC	embryonic stem cell:	n/a	n/a
15	HMGN3	chr6:149772388-149772512	K562	blood:	n/a	n/a
16	HMGN3	chr6:149772171-149772185	K562	blood:	n/a	n/a
17	HNF4A	chr6:149773237-149773530	HepG2	liver:	n/a	chr6:149773369-149773384
18	MAX	chr6:149773388-149773906	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr6:149772401-149772790	Hela-S3	cervix:	n/a	chr6:149772703-149772713
20	MAX	chr6:149771691-149772179	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr6:149771673-149772189	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAZ	chr6:149772168-149772169	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr6:149772414-149772820	Hela-S3	cervix:	n/a	chr6:149772703-149772713
24	MYC	chr6:149771895-149772009	MCF-7	breast:	n/a	n/a
25	NFIC	chr6:149773245-149774035	ECC-1	luminal epithelium:	n/a	n/a
26	NFIC	chr6:149773250-149773960	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr6:149773385-149773535	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:149773059-149773068	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:149773078-149773102	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:149771743-149771871	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:149772064-149772251	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:149773559-149773586	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:149770891-149772320	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:149772582-149772879	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:149771989-149773037	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:149772303-149772310	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:149771891-149771904	MCF-7	breast:	n/a	n/a
38	POLR2A	chr6:149770919-149771956	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:149772412-149772835	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:149771732-149771737	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:149772385-149772707	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:149771905-149772047	MCF-7	breast:	n/a	n/a
43	POLR2A	chr6:149771173-149771500	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:149773558-149773947	GM12878	blood:	n/a	n/a
45	RCOR1	chr6:149771947-149771965	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr6:149772619-149772622	Hela-S3	cervix:	n/a	n/a
47	SMARCB1	chr6:149771406-149773213	Hela-S3	cervix:	n/a	n/a
48	SMC3	chr6:149772110-149772264	Hela-S3	cervix:	n/a	n/a
49	TCF12	chr6:149773216-149773925	ECC-1	luminal epithelium:	n/a	n/a
50	TCF12	chr6:149773305-149774003	ECC-1	luminal epithelium:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:149772707-149772757	NHBE	bronchial:	n/a
2	chr6:149771807-149771857	RPTEC	kidney:	n/a
3	chr6:149772707-149772757	GM12892	blood:	n/a
4	chr6:149772346-149772396	BJ	skin:	n/a
5	chr6:149772854-149772904	SAEC	small airway:	n/a
6	chr6:149772150-149772200	AG04449	skin:	fetal
7	chr6:149772346-149772396	SKMC	muscle:	n/a
8	chr6:149772707-149772757	HCM	heart:	n/a
9	chr6:149772892-149772942	NB4	blood:	n/a
10	chr6:149771845-149771895	ovcar-3	ovarian:	n/a
11	chr6:149772150-149772200	ECC-1	luminal epithelium:	n/a
12	chr6:149771807-149771857	IMR90	lung:	fetal
13	chr6:149772716-149772766	HEEpiC	esophagus:	n/a
14	chr6:149771807-149771857	HRPEpiC	eye:	n/a
15	chr6:149772716-149772766	SK-N-SH	brain:	n/a
16	chr6:149772707-149772757	RPTEC	kidney:	n/a
17	chr6:149772716-149772766	ProgFib	skin:	n/a
18	chr6:149772150-149772200	MCF10A-Er-Src	breast:	n/a
19	chr6:149772892-149772942	RPTEC	kidney:	n/a
20	chr6:149772892-149772942	AG04450	lung:	fetal
21	chr6:149772716-149772766	PrEC	prostate:	n/a
22	chr6:149771807-149771857	HEEpiC	esophagus:	n/a
23	chr6:149772854-149772904	HEEpiC	esophagus:	n/a
24	chr6:149772707-149772757	GM12891	blood:	n/a
25	chr6:149772150-149772200	Hepatocyte	liver:	n/a
26	chr6:149772346-149772396	ProgFib	skin:	n/a
27	chr6:149772892-149772942	SK-N-MC	brain:	n/a
28	chr6:149772854-149772904	HCPEpiC	choroid plexus:	n/a
29	chr6:149772892-149772942	A549	lung:	n/a
30	chr6:149772892-149772942	NH-A	brain:	n/a
31	chr6:149771807-149771857	HNPCEpiC	eye:	n/a
32	chr6:149772854-149772904	MCF-7	breast:	n/a
33	chr6:149772346-149772396	HEK293	kidney:	embryo
34	chr6:149772346-149772396	AG04449	skin:	fetal
35	chr6:149772892-149772942	HCPEpiC	choroid plexus:	n/a
36	chr6:149772150-149772200	Hela-S3	cervix:	n/a
37	chr6:149772346-149772396	HRCEpiC	kidney:	n/a
38	chr6:149772150-149772200	GM12878	blood:	n/a
39	chr6:149771807-149771857	Jurkat	blood:	n/a
40	chr6:149771807-149771857	SAEC	small airway:	n/a
41	chr6:149772854-149772904	AoSMC	blood vessel:	n/a
42	chr6:149772854-149772904	K562	blood:	n/a
43	chr6:149772716-149772766	GM12892	blood:	n/a
44	chr6:149772716-149772766	GM06990	blood:	n/a
45	chr6:149772892-149772942	HRE	kidney:	n/a
46	chr6:149772346-149772396	GM06990	blood:	n/a
47	chr6:149771845-149771895	HepG2	liver:	n/a
48	chr6:149772892-149772942	HCM	heart:	n/a
49	chr6:149772150-149772200	ProgFib	skin:	n/a
50	chr6:149772892-149772942	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:149399709..149402380-chr6:149772394..149774498,2	K562	blood:
2	chr6:149769726..149773853-chr6:149775332..149778151,3	K562	blood:
3	chr6:149764839..149766396-chr6:149774052..149775951,2	MCF-7	breast:
4	chr6:149767445..149770252-chr6:149772541..149774258,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZC3H12D	TF binding region
ZC3H12D	CpG island
ENSG00000178199	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544644171	chr6:149771300-149771301	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs564328806	chr6:149771337-149771338	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs412746	chr6:149771344-149771345	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546795921	chr6:149771377-149771378	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560287315	chr6:149771406-149771407	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374656417	chr6:149771472-149771473	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370405209	chr6:149771483-149771484	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529473850	chr6:149771503-149771504	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs116831134	chr6:149771537-149771538	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76605937	chr6:149771659-149771660	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368031027	chr6:149771664-149771665	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537438541	chr6:149771689-149771690	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116615164	chr6:149771717-149771718	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113491906	chr6:149771727-149771728	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571164448	chr6:149771780-149771781	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527633563	chr6:149771811-149771812	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533847483	chr6:149771878-149771879	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553923877	chr6:149771914-149771915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372286802	chr6:149771929-149771930	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75156427	chr6:149771932-149771933	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536494555	chr6:149771952-149771953	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532395715	chr6:149771969-149771970	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79387518	chr6:149771990-149771991	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544987087	chr6:149772035-149772036	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375667797	chr6:149772038-149772039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367621958	chr6:149772097-149772098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs368424369	chr6:149772134-149772135	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577977543	chr6:149772166-149772167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139184643	chr6:149772172-149772173	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112722576	chr6:149772190-149772191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142544743	chr6:149772295-149772296	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546023898	chr6:149772317-149772318	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562745839	chr6:149772323-149772324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531990813	chr6:149772341-149772342	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs150937045	chr6:149772429-149772430	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571191256	chr6:149772447-149772448	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs533579537	chr6:149772453-149772454	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369074618	chr6:149772488-149772489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376106059	chr6:149772518-149772519	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369685661	chr6:149772563-149772564	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547498046	chr6:149772606-149772607	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562632523	chr6:149772618-149772619	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536358208	chr6:149772631-149772632	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs415434	chr6:149772645-149772646	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576175501	chr6:149772647-149772648	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538897826	chr6:149772656-149772657	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558607172	chr6:149772720-149772721	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577956558	chr6:149772738-149772739	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114090716	chr6:149772741-149772742	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139438120	chr6:149772753-149772754	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149763200-149771400	Weak transcription	Pancreas	Pancrea
2	chr6:149764800-149771400	Weak transcription	Spleen	Spleen
3	chr6:149765200-149771400	Weak transcription	Brain Anterior Caudate	brain
4	chr6:149766000-149771400	Weak transcription	Right Atrium	heart
5	chr6:149766600-149773000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:149766800-149771400	Weak transcription	Left Ventricle	heart
7	chr6:149766800-149771600	Weak transcription	Lung	lung
8	chr6:149767400-149772800	Weak transcription	HepG2	liver
9	chr6:149768400-149771600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:149768600-149771600	Weak transcription	Gastric	stomach
12	chr6:149769600-149771400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:149769800-149771400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:149770000-149773000	Weak transcription	Primary B cells from cord blood	blood
18	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:149770400-149771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:149770400-149771600	Weak transcription	Esophagus	oesophagus
22	chr6:149771000-149771400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:149771000-149771400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:149771000-149771600	Enhancers	Brain Angular Gyrus	brain
25	chr6:149771000-149771600	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr6:149771000-149771600	Strong transcription	GM12878-XiMat	blood
27	chr6:149771000-149771800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr6:149771000-149773400	Enhancers	Fetal Heart	heart
29	chr6:149771200-149771400	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:149771200-149771600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:149771200-149771600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
32	chr6:149771200-149771600	Enhancers	Colonic Mucosa	Colon
33	chr6:149771200-149771600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:149771200-149771800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:149771200-149771800	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr6:149771200-149772000	Flanking Active TSS	Hela-S3	cervix
37	chr6:149771400-149771600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr6:149771400-149771600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:149771400-149771600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:149771400-149771600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:149771400-149771600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:149771400-149771600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:149771400-149771600	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr6:149771400-149771600	Enhancers	Liver	Liver
45	chr6:149771400-149771600	Enhancers	Brain Anterior Caudate	brain
46	chr6:149771400-149771600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
47	chr6:149771400-149771600	Enhancers	Brain Substantia Nigra	brain
48	chr6:149771400-149771600	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr6:149771400-149771600	Bivalent Enhancer	Placenta	Placenta
50	chr6:149771400-149771600	Bivalent Enhancer	Fetal Stomach	stomach

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