Variant report

Variant	nsv462254
Chromosome Location	chr5:93956937-94056825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:819)
CpG islands
(count:123)
Chromatin interactive
region (count:44)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:94006338-94006365	K562	blood:	n/a	n/a
2	ARID3A	chr5:93957544-93957764	K562	blood:	n/a	n/a
3	ARID3A	chr5:93975979-93976184	HepG2	liver:	n/a	n/a
4	ATF2	chr5:94038400-94038840	GM12878	blood:	n/a	n/a
5	ATF2	chr5:94038328-94039039	GM12878	blood:	n/a	n/a
6	ATF2	chr5:94036156-94036763	GM12878	blood:	n/a	n/a
7	ATF2	chr5:93967707-93968143	GM12878	blood:	n/a	n/a
8	ATF2	chr5:94036162-94036723	GM12878	blood:	n/a	n/a
9	BATF	chr5:94036308-94036624	GM12878	blood:	n/a	chr5:94036517-94036527 chr5:94036516-94036527 chr5:94036535-94036544
10	BATF	chr5:94038520-94038857	GM12878	blood:	n/a	n/a
11	BATF	chr5:94036276-94036715	GM12878	blood:	n/a	chr5:94036517-94036527 chr5:94036516-94036527 chr5:94036535-94036544
12	BCL11A	chr5:93967804-93968049	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:94036253-94036654	GM12878	blood:	n/a	chr5:94036542-94036551
14	BCL3	chr5:94038409-94038857	GM12878	blood:	n/a	chr5:94038823-94038832 chr5:94038545-94038554
15	BCL3	chr5:94036250-94036754	GM12878	blood:	n/a	chr5:94036542-94036551
16	BCLAF1	chr5:94036217-94036699	GM12878	blood:	n/a	chr5:94036542-94036551
17	BCLAF1	chr5:93967624-93968046	GM12878	blood:	n/a	n/a
18	BCLAF1	chr5:93975822-93976175	K562	blood:	n/a	n/a
19	BHLHE40	chr5:93957496-93957821	K562	blood:	n/a	n/a
20	BHLHE40	chr5:94035310-94035333	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:94038685-94038712	GM12878	blood:	n/a	n/a
22	BRCA1	chr5:93969961-93970083	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr5:93958177-93958961	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:94033548-94034368	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr5:94031845-94032115	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr5:94027542-94030061	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:94035035-94035831	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr5:93972023-93972411	K562	blood:	n/a	n/a
29	CBX3	chr5:93994366-93994925	K562	blood:	n/a	n/a
30	CBX3	chr5:93975782-93976260	K562	blood:	n/a	n/a
31	CBX3	chr5:93994445-93994899	K562	blood:	n/a	n/a
32	CBX3	chr5:93975842-93976238	K562	blood:	n/a	n/a
33	CBX3	chr5:93975821-93976264	HCT-116	colon:	n/a	n/a
34	CBX3	chr5:93975918-93976204	HCT-116	colon:	n/a	n/a
35	CEBPB	chr5:93957605-93957988	Hela-S3	cervix:	n/a	chr5:93957831-93957844
36	CEBPB	chr5:94027671-94028029	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr5:93982788-93983104	HepG2	liver:	n/a	chr5:93982938-93982949 chr5:93982938-93982951 chr5:93982939-93982950
38	CEBPB	chr5:94000401-94000558	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr5:94043155-94043405	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr5:94031822-94032136	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr5:94022493-94022502	K562	blood:	n/a	n/a
42	CEBPB	chr5:93984598-93984838	A549	lung:	n/a	n/a
43	CEBPB	chr5:93984576-93984838	HepG2	liver:	n/a	n/a
44	CEBPB	chr5:93982876-93983036	K562	blood:	n/a	chr5:93982938-93982949 chr5:93982938-93982951 chr5:93982939-93982950
45	CEBPB	chr5:93988557-93988656	HepG2	liver:	n/a	chr5:93988618-93988629
46	CEBPB	chr5:93982837-93983089	A549	lung:	n/a	chr5:93982938-93982949 chr5:93982938-93982951 chr5:93982939-93982950
47	CEBPB	chr5:94007096-94007750	Hela-S3	cervix:	n/a	chr5:94007245-94007258
48	CEBPB	chr5:93984590-93984903	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr5:94033733-94034500	Hela-S3	cervix:	n/a	chr5:94033762-94033775 chr5:94034131-94034144
50	CEBPB	chr5:93984575-93984868	IMR90	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:93957782-93957832	SK-N-MC	brain:	n/a
2	chr5:93957782-93957832	SK-N-MC	brain:	n/a
3	chr5:94027853-94027903	BE2_C	brain:	n/a
4	chr5:94027853-94027903	HAEpiC	amniotic membrane:	n/a
5	chr5:93957782-93957832	AG09319	gingival:	n/a
6	chr5:93957782-93957832	HRCEpiC	kidney:	n/a
7	chr5:93957782-93957832	NH-A	brain:	n/a
8	chr5:93957782-93957832	HCT-116	colon:	n/a
9	chr5:94027853-94027903	SAEC	small airway:	n/a
10	chr5:93957782-93957832	GM19239	blood:	n/a
11	chr5:94027853-94027903	K562	blood:	n/a
12	chr5:94027853-94027903	HNPCEpiC	eye:	n/a
13	chr5:94027853-94027903	HEEpiC	esophagus:	n/a
14	chr5:93957782-93957832	HNPCEpiC	eye:	n/a
15	chr5:94027853-94027903	BJ	skin:	n/a
16	chr5:93957782-93957832	HCPEpiC	choroid plexus:	n/a
17	chr5:94027853-94027903	Caco-2	colon:	n/a
18	chr5:93957782-93957832	HRPEpiC	eye:	n/a
19	chr5:93957782-93957832	ovcar-3	ovarian:	n/a
20	chr5:93957782-93957832	CMK	blood:	n/a
21	chr5:94027853-94027903	T-47D	breast:	n/a
22	chr5:94027853-94027903	GM06990	blood:	n/a
23	chr5:94027853-94027903	SK-N-MC	brain:	n/a
24	chr5:94027853-94027903	PrEC	prostate:	n/a
25	chr5:93957782-93957832	RPTEC	kidney:	n/a
26	chr5:93957782-93957832	SKMC	muscle:	n/a
27	chr5:93957782-93957832	HepG2	liver:	n/a
28	chr5:93957782-93957832	HEEpiC	esophagus:	n/a
29	chr5:93957782-93957832	A549	lung:	n/a
30	chr5:94027853-94027903	HIPEpiC	eye:	n/a
31	chr5:93957782-93957832	IMR90	lung:	fetal
32	chr5:94027853-94027903	HRCEpiC	kidney:	n/a
33	chr5:93957782-93957832	HRE	kidney:	n/a
34	chr5:94027853-94027903	Jurkat	blood:	n/a
35	chr5:94027853-94027903	Hepatocyte	liver:	n/a
36	chr5:93957782-93957832	AG09309	skin:	n/a
37	chr5:94027853-94027903	AG09319	gingival:	n/a
38	chr5:94027853-94027903	HMEC	breast:	n/a
39	chr5:93957782-93957832	GM12891	blood:	n/a
40	chr5:93957782-93957832	GM12878	blood:	n/a
41	chr5:93957782-93957832	HIPEpiC	eye:	n/a
42	chr5:93957782-93957832	PFSK-1	brain:	n/a
43	chr5:94027853-94027903	U87	brain:	n/a
44	chr5:93957782-93957832	HL-60	blood:	n/a
45	chr5:93957782-93957832	HAEpiC	amniotic membrane:	n/a
46	chr5:94027853-94027903	HRE	kidney:	n/a
47	chr5:94027853-94027903	H1-hESC	embryonic stem cell:	embryo
48	chr5:94027853-94027903	ProgFib	skin:	n/a
49	chr5:93957782-93957832	AoSMC	blood vessel:	n/a
50	chr5:94027853-94027903	HPAEpiC	pulmonary alveolar:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:73608596..73609197-chr5:94047132..94048080,2	Hela-S3	cervix:
2	chr5:93979164..93980988-chr5:93992577..93994431,2	MCF-7	breast:
3	chr5:94014366..94016114-chr5:94021219..94023742,2	K562	blood:
4	chr5:93978811..93981676-chr5:93982231..93984096,2	K562	blood:
5	chr5:94013156..94016114-chr5:94021219..94023049,2	K562	blood:
6	chr5:94014366..94016114-chr5:94021219..94023742,2	K562	blood:
7	chr5:93860650..93861258-chr5:94028313..94029309,3	MCF-7	breast:
8	chr5:93954931..93957124-chr5:93988357..93990518,2	K562	blood:
9	chr5:93969932..93973613-chr5:93973766..93976891,3	K562	blood:
10	chr5:93983063..93985415-chr5:93987503..93990364,2	K562	blood:
11	chr5:94014544..94016348-chr5:94016679..94018757,2	K562	blood:
12	chr5:93958271..93960232-chr5:94030096..94032055,2	K562	blood:
13	chr5:93954192..93956336-chr5:93995387..93997167,2	K562	blood:
14	chr5:93948705..93949988-chr5:94028528..94029361,5	MCF-7	breast:
15	chr5:93983063..93985400-chr5:93988738..93990364,2	K562	blood:
16	chr5:93973156..93974840-chr5:93976350..93977887,2	MCF-7	breast:
17	chr2:32581417..32582344-chr5:94051301..94052090,2	Hela-S3	cervix:
18	chr5:94034610..94036248-chr5:94045168..94047165,2	K562	blood:
19	chr5:94014544..94016348-chr5:94016679..94018757,2	K562	blood:
20	chr5:93973156..93974840-chr5:93976350..93977887,2	MCF-7	breast:
21	chr5:93966675..93969302-chr5:93973878..93976384,2	K562	blood:
22	chr5:93969932..93973613-chr5:93973766..93976891,3	K562	blood:
23	chr5:93979164..93980988-chr5:93992577..93994431,2	MCF-7	breast:
24	chr5:94041697..94043970-chr5:94047357..94049354,2	K562	blood:
25	chr5:93983063..93985415-chr5:93987503..93990364,2	K562	blood:
26	chr5:93952256..93955578-chr5:93956306..93958431,4	MCF-7	breast:
27	chr5:94020834..94023576-chr5:94026554..94028869,2	K562	blood:
28	chr5:93992680..93994968-chr5:93995971..93998470,2	K562	blood:
29	chr5:93980538..93982514-chr5:93987987..93990202,2	MCF-7	breast:
30	chr5:93958271..93960232-chr5:94030096..94032055,2	K562	blood:
31	chr5:93980538..93982514-chr5:93987987..93990202,2	MCF-7	breast:
32	chr5:93951256..93953174-chr5:94050678..94052441,2	K562	blood:
33	chr5:93966675..93969302-chr5:93973878..93976384,2	K562	blood:
34	chr5:93952095..93956001-chr5:93957512..93961015,6	MCF-7	breast:
35	chr5:93958577..93960798-chr5:93964333..93967192,2	K562	blood:
36	chr5:94041697..94043970-chr5:94047357..94049354,2	K562	blood:
37	chr5:93983063..93985400-chr5:93988738..93990364,2	K562	blood:
38	chr5:93954931..93957124-chr5:93988357..93990518,2	K562	blood:
39	chr5:93954423..93956135-chr5:93981636..93983140,2	MCF-7	breast:
40	chr5:93977937..93979943-chr5:93986873..93988612,2	K562	blood:
41	chr5:93953624..93955883-chr5:93971735..93973359,2	K562	blood:
42	chr5:93978811..93981676-chr5:93982231..93984096,2	K562	blood:
43	chr5:93992680..93994968-chr5:93995971..93998470,2	K562	blood:
44	chr5:93977937..93979943-chr5:93986873..93988612,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM81B-6	chr5:93988977-93989033	NONHSAT102829
2	lnc-ANKRD32-3	chr5:94027891-94027961	NONHSAT102831
3	lnc-FAM81B-6	chr5:93964516-93964629	NONHSAT102829
4	lnc-KIAA0825-2	chr5:94044217-94046398	NONHSAT102832
5	lnc-FAM81B-6	chr5:93966208-93966448	NONHSAT102829
6	lnc-KIAA0825-2	chr5:94043230-94043272	NONHSAT102832
7	lnc-FAM81B-6	chr5:93985159-93985302	NONHSAT102829
8	lnc-FAM81B-6	chr5:93978978-93979140	NONHSAT102829
9	lnc-FAM81B-6	chr5:93987407-93987550	NONHSAT102829
10	lnc-ANKRD32-3	chr5:94043930-94043994	NONHSAT102831
11	lnc-FAM81B-6	chr5:93964797-93964872	NONHSAT102829

No data

Variant related genes	Relation type
ENSG00000270133	TF binding region
KIAA0825	TF binding region
MCTP1	TF binding region
ANKRD32	TF binding region
ENSG00000270133	CpG island
KIAA0825	CpG island
MCTP1	CpG island
ANKRD32	CpG island
ENSG00000115760	chromatin interactions
ENSG00000185261	chromatin interactions
ENSG00000175471	chromatin interactions
ENSG00000270133	chromatin interactions
ENSG00000133302	chromatin interactions

Extended variants
information (count: 3610 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3610 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17328275	chr5:93956937-93956938	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs371792612	chr5:93956943-93956944	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs17328296	chr5:93956986-93956987	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142510992	chr5:93956993-93956994	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs528607996	chr5:93957041-93957042	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs548422975	chr5:93957042-93957043	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs114857629	chr5:93957076-93957077	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs112339782	chr5:93957147-93957148	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs112430816	chr5:93957148-93957149	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs187686733	chr5:93957157-93957158	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs78562809	chr5:93957191-93957192	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs192693991	chr5:93957192-93957193	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369015300	chr5:93957212-93957213	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs570765561	chr5:93957278-93957279	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs539401424	chr5:93957287-93957288	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs528817942	chr5:93957296-93957297	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs372077034	chr5:93957446-93957447	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs182076180	chr5:93957465-93957466	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs17328331	chr5:93957472-93957473	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150240323	chr5:93957528-93957529	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs147282900	chr5:93957588-93957589	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs145332421	chr5:93957589-93957590	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs535043848	chr5:93957591-93957592	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs555046874	chr5:93957592-93957593	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs77853440	chr5:93957608-93957609	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs397839321	chr5:93957609-93957610	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs376418452	chr5:93957610-93957611	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs565834967	chr5:93957611-93957612	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs200483666	chr5:93957612-93957613	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs138910564	chr5:93957733-93957734	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs11738227	chr5:93957739-93957740	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs543611881	chr5:93957742-93957743	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs187769037	chr5:93957747-93957748	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs149482032	chr5:93957765-93957766	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs545764326	chr5:93957809-93957810	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs17083826	chr5:93957831-93957832	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528511490	chr5:93957860-93957861	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs542300475	chr5:93957875-93957876	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs116405523	chr5:93957886-93957887	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs192386634	chr5:93957889-93957890	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs184398624	chr5:93957904-93957905	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs17328400	chr5:93957967-93957968	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17328434	chr5:93958058-93958059	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190189873	chr5:93958148-93958149	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs369365485	chr5:93958170-93958171	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs535150230	chr5:93958244-93958245	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs113684703	chr5:93958256-93958257	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs143104514	chr5:93958257-93958258	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs537214618	chr5:93958270-93958271	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs138505225	chr5:93958320-93958321	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:1899 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93951000-93957200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:93955000-93962400	Weak transcription	Pancreas	Pancrea
3	chr5:93955000-93995400	Weak transcription	Gastric	stomach
4	chr5:93955200-93957400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:93955200-93957600	Weak transcription	Psoas Muscle	Psoas
6	chr5:93955200-93962400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:93955200-93966200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:93955200-93966200	Weak transcription	Left Ventricle	heart
9	chr5:93955400-93957200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:93955400-93962400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:93955400-93962400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:93955400-93965400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:93955400-93966000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:93955400-93966600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:93955400-93968400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:93955400-93973000	Weak transcription	Ovary	ovary
17	chr5:93955400-93973000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:93955600-93957000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:93955600-93957000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:93955600-93957000	Weak transcription	NHDF-Ad	bronchial
21	chr5:93955600-93957600	Weak transcription	Osteobl	bone
22	chr5:93955600-93957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:93955600-93958600	Weak transcription	NHLF	lung
24	chr5:93955600-93964600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:93955600-93964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:93955600-93964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:93955600-93965000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:93955600-93965200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:93955600-93965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:93955600-93966000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:93955600-93966000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:93955600-93966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:93955600-93966000	Weak transcription	Adipose Nuclei	Adipose
34	chr5:93955600-93966000	Weak transcription	Fetal Intestine Large	intestine
35	chr5:93955600-93966000	Weak transcription	HSMM	muscle
36	chr5:93955600-93966400	Weak transcription	Brain Anterior Caudate	brain
37	chr5:93955600-93972000	Weak transcription	Primary T cells from cord blood	blood
38	chr5:93955600-93974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:93955600-93975200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:93955600-93975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:93955800-93957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:93955800-93957200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:93955800-93957200	Weak transcription	Fetal Thymus	thymus
45	chr5:93955800-93957400	Weak transcription	Liver	Liver
46	chr5:93955800-93957800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr5:93955800-93958400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:93955800-93964600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:93955800-93964600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:93955800-93964800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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