Variant report

Variant	nsv877342
Chromosome Location	chr3:112185025-112332629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2373)
CpG islands
(count:1099)
Chromatin interactive
region (count:117)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2373 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:112280653-112281584	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:112250371-112250382	K562	blood:	n/a	n/a
3	ARID3A	chr3:112250194-112250459	HepG2	liver:	n/a	n/a
4	ATF1	chr3:112328988-112329362	K562	blood:	n/a	n/a
5	ATF1	chr3:112280650-112281430	K562	blood:	n/a	n/a
6	ATF1	chr3:112279861-112280264	K562	blood:	n/a	n/a
7	ATF2	chr3:112233216-112233958	GM12878	blood:	n/a	n/a
8	ATF2	chr3:112217577-112218762	GM12878	blood:	n/a	n/a
9	ATF2	chr3:112320958-112321418	GM12878	blood:	n/a	n/a
10	ATF2	chr3:112208326-112210333	GM12878	blood:	n/a	n/a
11	ATF2	chr3:112191977-112192593	GM12878	blood:	n/a	n/a
12	ATF2	chr3:112258649-112259179	GM12878	blood:	n/a	n/a
13	ATF2	chr3:112202984-112203674	GM12878	blood:	n/a	n/a
14	ATF2	chr3:112280282-112281599	GM12878	blood:	n/a	n/a
15	ATF2	chr3:112280603-112281289	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr3:112233307-112233940	GM12878	blood:	n/a	n/a
17	ATF2	chr3:112320923-112321541	GM12878	blood:	n/a	n/a
18	ATF2	chr3:112258495-112259308	GM12878	blood:	n/a	n/a
19	ATF2	chr3:112281815-112282342	GM12878	blood:	n/a	n/a
20	ATF2	chr3:112280589-112281458	GM12878	blood:	n/a	n/a
21	ATF2	chr3:112208191-112210297	GM12878	blood:	n/a	n/a
22	ATF2	chr3:112217882-112218686	GM12878	blood:	n/a	n/a
23	ATF2	chr3:112237760-112238685	GM12878	blood:	n/a	n/a
24	ATF2	chr3:112201412-112201996	GM12878	blood:	n/a	n/a
25	ATF2	chr3:112281901-112282337	GM12878	blood:	n/a	n/a
26	ATF3	chr3:112280541-112280957	K562	blood:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
27	ATF3	chr3:112280561-112281027	K562	blood:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
28	ATF3	chr3:112280475-112281190	A549	lung:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
29	ATF3	chr3:112280563-112281302	A549	lung:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
30	ATF3	chr3:112279938-112280177	K562	blood:	n/a	n/a
31	ATF3	chr3:112280533-112281188	GM12878	blood:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
32	ATF3	chr3:112280668-112280994	K562	blood:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
33	ATF3	chr3:112280617-112281016	HepG2	liver:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
34	ATF3	chr3:112279981-112280136	GM12878	blood:	n/a	n/a
35	ATF3	chr3:112280600-112280890	GM12878	blood:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
36	ATF3	chr3:112280500-112281132	H1-hESC	embryonic stem cell:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
37	ATF3	chr3:112280572-112281115	HepG2	liver:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
38	ATF3	chr3:112280604-112281011	H1-hESC	embryonic stem cell:	n/a	chr3:112280797-112280806 chr3:112280786-112280806
39	BACH1	chr3:112280713-112281321	H1-hESC	embryonic stem cell:	n/a	n/a
40	BATF	chr3:112281914-112282258	GM12878	blood:	n/a	n/a
41	BATF	chr3:112208785-112209113	GM12878	blood:	n/a	n/a
42	BATF	chr3:112233387-112233955	GM12878	blood:	n/a	n/a
43	BATF	chr3:112321009-112321476	GM12878	blood:	n/a	n/a
44	BATF	chr3:112233345-112233906	GM12878	blood:	n/a	n/a
45	BATF	chr3:112321042-112321412	GM12878	blood:	n/a	n/a
46	BATF	chr3:112281954-112282169	GM12878	blood:	n/a	n/a
47	BATF	chr3:112208739-112209174	GM12878	blood:	n/a	n/a
48	BATF	chr3:112222377-112222753	GM12878	blood:	n/a	n/a
49	BATF	chr3:112258695-112259018	GM12878	blood:	n/a	n/a
50	BCL11A	chr3:112233466-112233775	GM12878	blood:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:112276088-112276138	HRE	kidney:	n/a
2	chr3:112276088-112276138	HRE	kidney:	n/a
3	chr3:112282684-112282734	HCPEpiC	choroid plexus:	n/a
4	chr3:112282031-112282081	AoSMC	blood vessel:	n/a
5	chr3:112218761-112218811	Caco-2	colon:	n/a
6	chr3:112323619-112323669	Jurkat	blood:	n/a
7	chr3:112302060-112302110	SK-N-MC	brain:	n/a
8	chr3:112280678-112280728	NT2-D1	testis:	n/a
9	chr3:112280678-112280728	HPAEpiC	pulmonary alveolar:	n/a
10	chr3:112280241-112280291	HCF	heart:	n/a
11	chr3:112280384-112280434	U87	brain:	n/a
12	chr3:112324301-112324351	HepG2	liver:	n/a
13	chr3:112280241-112280291	CMK	blood:	n/a
14	chr3:112324301-112324351	HCF	heart:	n/a
15	chr3:112280577-112280627	HPAEpiC	pulmonary alveolar:	n/a
16	chr3:112280384-112280434	GM12891	blood:	n/a
17	chr3:112278508-112278558	SK-N-SH_RA	brain:	n/a
18	chr3:112281021-112281071	IMR90	lung:	fetal
19	chr3:112278508-112278558	AG10803	skin:	n/a
20	chr3:112302060-112302110	ProgFib	skin:	n/a
21	chr3:112302060-112302110	PFSK-1	brain:	n/a
22	chr3:112218510-112218560	AoSMC	blood vessel:	n/a
23	chr3:112323619-112323669	Hepatocyte	liver:	n/a
24	chr3:112280886-112280936	CMK	blood:	n/a
25	chr3:112218510-112218560	PANC-1	pancreas:	n/a
26	chr3:112218761-112218811	HRE	kidney:	n/a
27	chr3:112217973-112218023	ECC-1	luminal epithelium:	n/a
28	chr3:112280384-112280434	HIPEpiC	eye:	n/a
29	chr3:112218510-112218560	CMK	blood:	n/a
30	chr3:112282031-112282081	MCF10A-Er-Src	breast:	n/a
31	chr3:112280886-112280936	HEEpiC	esophagus:	n/a
32	chr3:112302060-112302110	HNPCEpiC	eye:	n/a
33	chr3:112323619-112323669	GM12878	blood:	n/a
34	chr3:112324301-112324351	AG09309	skin:	n/a
35	chr3:112281021-112281071	AG04449	skin:	fetal
36	chr3:112302060-112302110	AG09309	skin:	n/a
37	chr3:112280886-112280936	HCM	heart:	n/a
38	chr3:112278508-112278558	ECC-1	luminal epithelium:	n/a
39	chr3:112280577-112280627	CMK	blood:	n/a
40	chr3:112217973-112218023	GM12878	blood:	n/a
41	chr3:112218510-112218560	NH-A	brain:	n/a
42	chr3:112278508-112278558	MCF10A-Er-Src	breast:	n/a
43	chr3:112280577-112280627	HRCEpiC	kidney:	n/a
44	chr3:112282031-112282081	NH-A	brain:	n/a
45	chr3:112302060-112302110	SK-N-SH	brain:	n/a
46	chr3:112217973-112218023	IMR90	lung:	fetal
47	chr3:112281021-112281071	H1-hESC	embryonic stem cell:	embryo
48	chr3:112218510-112218560	NB4	blood:	n/a
49	chr3:112302060-112302110	ECC-1	luminal epithelium:	n/a
50	chr3:112323619-112323669	SK-N-SH	brain:	n/a

(count:117 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:112280777..112282990-chr3:112288928..112291699,3	MCF-7	breast:
2	chr3:112279983..112280509-chr6:53409485..53409986,2	Hela-S3	cervix:
3	chr3:112276557..112278101-chr3:112358499..112360515,2	MCF-7	breast:
4	chr3:112259312..112262688-chr3:112264103..112268109,5	MCF-7	breast:
5	chr3:112276984..112278823-chr3:112279239..112281629,2	MCF-7	breast:
6	chr3:112279683..112282381-chr3:112710182..112712390,2	K562	blood:
7	chr3:112270443..112273330-chr3:112277844..112281278,5	MCF-7	breast:
8	chr3:112301968..112302762-chr3:112697616..112698569,2	MCF-7	breast:
9	chr3:112259312..112262688-chr3:112264103..112268109,5	MCF-7	breast:
10	chr3:112290552..112292970-chr3:112296828..112298665,2	K562	blood:
11	chr3:112272255..112274870-chr3:112277581..112280165,3	K562	blood:
12	chr3:112303825..112307196-chr3:112355847..112358748,3	MCF-7	breast:
13	chr3:112324614..112327259-chr3:112358455..112360769,2	MCF-7	breast:
14	chr17:47841055..47841749-chr3:112279742..112280576,2	NB4	blood:
15	chr3:112318190..112320203-chr3:112328682..112330809,2	MCF-7	breast:
16	chr3:111830661..111831289-chr3:112238353..112238915,2	K562	blood:
17	chr3:112304467..112306761-chr3:112307873..112309830,2	K562	blood:
18	chr3:112290282..112294480-chr3:112295112..112298665,4	K562	blood:
19	chr3:112046305..112046882-chr3:112237913..112238884,3	MCF-7	breast:
20	chr3:112303113..112305975-chr3:112359023..112361178,2	MCF-7	breast:
21	chr3:112279739..112282135-chr3:112735331..112738696,3	K562	blood:
22	chr3:112045750..112047025-chr3:112237531..112238950,15	MCF-7	breast:
23	chr3:112290282..112294480-chr3:112295112..112298665,4	K562	blood:
24	chr3:111830383..111831315-chr3:112250332..112250864,2	K562	blood:
25	chr3:112300978..112301744-chr9:97623395..97624209,2	MCF-7	breast:
26	chr3:112300755..112301715-chr3:112697798..112698770,2	MCF-7	breast:
27	chr3:112030207..112032434-chr3:112262315..112264380,2	K562	blood:
28	chr3:112279230..112282432-chr3:112358112..112361671,5	K562	blood:
29	chr3:112305089..112306971-chr3:112309621..112312159,2	MCF-7	breast:
30	chr3:112189206..112190998-chr3:112191867..112193876,2	K562	blood:
31	chr3:112257078..112259281-chr3:112279236..112282506,3	MCF-7	breast:
32	chr3:111830456..111832040-chr3:112279153..112281688,2	K562	blood:
33	chr16:2524560..2525459-chr3:112280059..112280631,2	Hela-S3	cervix:
34	chr3:112263776..112266083-chr3:112359451..112361414,2	MCF-7	breast:
35	chr3:112045925..112046858-chr3:112237972..112238492,2	K562	blood:
36	chr17:43394640..43395163-chr3:112280934..112281458,2	Hela-S3	cervix:
37	chr3:112215809..112217939-chr3:112219323..112221326,2	K562	blood:
38	chr14:81790277..81790869-chr3:112280954..112281455,2	Hela-S3	cervix:
39	chr14:93673049..93673592-chr3:112280646..112281316,2	Hela-S3	cervix:
40	chr3:112268324..112269882-chr3:112359880..112361529,2	MCF-7	breast:
41	chr3:112278745..112284115-chr3:112357887..112361363,11	MCF-7	breast:
42	chr3:112267679..112269481-chr3:112276502..112278431,2	MCF-7	breast:
43	chr3:112011899..112013194-chr3:112237762..112239193,5	MCF-7	breast:
44	chr3:112309559..112314656-chr3:112358465..112361451,5	MCF-7	breast:
45	chr3:112280777..112282990-chr3:112288928..112291699,3	MCF-7	breast:
46	chr3:112297435..112299930-chr3:112303584..112305354,2	K562	blood:
47	chr3:111856051..111856906-chr3:112237978..112238501,2	MCF-7	breast:
48	chr3:112278908..112280422-chr3:112332975..112334877,2	MCF-7	breast:
49	chr3:112326392..112328017-chr3:112358236..112359844,2	MCF-7	breast:
50	chr3:112285735..112289374-chr3:112291760..112294225,3	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35A5-1	chr3:112315410-112315463	XLOC_002759
2	lnc-ATG3-3	chr3:112188603-112188651	NONHSAT091180
3	lnc-CCDC80-2	chr3:112315703-112318342	NONHSAT091188
4	lnc-ATG3-3	chr3:112188605-112188651	NONHSAT091179
5	lnc-CCDC80-3	chr3:112280304-112280704	NONHSAT091185
6	lnc-ATG3-1	chr3:112244395-112246989	NONHSAT091182
7	lnc-ATG3-3	chr3:112188819-112188869	NONHSAT091179
8	lnc-ATG3-3	chr3:112184773-112185230	NONHSAT091179
9	lnc-CCDC80-2	chr3:112315641-112320749	ENSG00000272761.1
10	lnc-ATG3-3	chr3:112188819-112189300	NONHSAT091180
11	lnc-CCDC80-2	chr3:112315641-112320816	NR_109779
12	lnc-SLC35A5-2	chr3:112273149-112273439	expReg_chr3_7492_+
13	lnc-CCDC80-3	chr3:112276985-112277264	NONHSAT091185
14	lnc-SLC35A5-1	chr3:112315667-112322287	XLOC_002759

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ATG3	hsa-miR-155-5p	chr3:112251414-112251436
2	SLC35A5	hsa-miR-7-5p	chr3:112301960-112301982

Variant related genes	Relation type
SLC35A5	TF binding region
CCDC80	TF binding region
ATG3	TF binding region
BTLA	TF binding region
ENSG00000272761	TF binding region
OR7E100P	TF binding region
SLC35A5	CpG island
CCDC80	CpG island
ATG3	CpG island
BTLA	CpG island
ENSG00000272761	CpG island
OR7E100P	CpG island
ENSG00000163617	chromatin interactions
ENSG00000163611	chromatin interactions
ENSG00000131236	chromatin interactions
ENSG00000142871	chromatin interactions
ENSG00000272844	chromatin interactions
ENSG00000189159	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000138459	chromatin interactions
ENSG00000001084	chromatin interactions
ENSG00000186265	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000162065	chromatin interactions
ENSG00000144848	chromatin interactions
ENSG00000170270	chromatin interactions
ENSG00000163608	chromatin interactions
ENSG00000144827	chromatin interactions
ENSG00000114529	chromatin interactions
ENSG00000163607	chromatin interactions
ENSG00000091986	chromatin interactions
ENSG00000121104	chromatin interactions
ENSG00000207940	chromatin interactions
ENSG00000240057	chromatin interactions
ENSG00000012963	chromatin interactions
ENSG00000151576	chromatin interactions
ENSG00000172139	chromatin interactions
CHUK	miRNA target sites

Extended variants
information (count: 5536 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:5536 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9288952	chr3:112185025-112185026	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150521270	chr3:112185087-112185088	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs373837326	chr3:112185131-112185132	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs557593638	chr3:112185145-112185146	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs138367781	chr3:112185156-112185157	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs202155032	chr3:112185195-112185196	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs577386489	chr3:112185221-112185222	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368161729	chr3:112185269-112185270	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371180518	chr3:112185274-112185275	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147268869	chr3:112185290-112185291	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116108770	chr3:112185306-112185307	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573215700	chr3:112185310-112185311	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541752516	chr3:112185324-112185325	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550079792	chr3:112185334-112185335	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111544923	chr3:112185413-112185414	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185693709	chr3:112185415-112185416	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200120628	chr3:112185444-112185445	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56897157	chr3:112185445-112185446	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143136810	chr3:112185459-112185460	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563961285	chr3:112185476-112185477	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544196434	chr3:112185489-112185490	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532828309	chr3:112185583-112185584	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190408519	chr3:112185618-112185619	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559716061	chr3:112185659-112185660	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146337194	chr3:112185800-112185801	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148453466	chr3:112185803-112185804	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567581552	chr3:112185805-112185806	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146442344	chr3:112185810-112185811	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571204741	chr3:112185846-112185847	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79679986	chr3:112185850-112185851	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548711958	chr3:112185856-112185857	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34638366	chr3:112185875-112185876	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9854311	chr3:112185881-112185882	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373924318	chr3:112185890-112185891	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376812877	chr3:112185900-112185901	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537368250	chr3:112185930-112185931	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551162755	chr3:112185940-112185941	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2859584	chr3:112185954-112185955	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577329421	chr3:112185960-112185961	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553548967	chr3:112186007-112186008	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573143248	chr3:112186018-112186019	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535800520	chr3:112186054-112186055	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112531226	chr3:112186058-112186059	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150809996	chr3:112186073-112186074	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537231337	chr3:112186087-112186088	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185779124	chr3:112186099-112186100	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77530212	chr3:112186108-112186109	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200199480	chr3:112186119-112186120	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139083331	chr3:112186129-112186130	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144006866	chr3:112186167-112186168	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:3766 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112179800-112189800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:112180400-112195400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr3:112181400-112185600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:112181800-112185600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:112182000-112185400	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:112182200-112193600	Weak transcription	Spleen	Spleen
7	chr3:112182800-112186400	Weak transcription	Fetal Thymus	thymus
8	chr3:112183400-112185200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:112183400-112185400	Genic enhancers	Primary B cells from cord blood	blood
10	chr3:112183600-112185200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr3:112183600-112185200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:112183600-112185400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:112183600-112185400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:112183600-112186400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:112183600-112186400	Weak transcription	Adipose Nuclei	Adipose
16	chr3:112183800-112185200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:112183800-112185200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:112183800-112186400	Weak transcription	Thymus	Thymus
19	chr3:112183800-112186800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:112183800-112188600	Weak transcription	HSMM	muscle
21	chr3:112183800-112195000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr3:112184000-112186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:112184000-112186600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr3:112184000-112186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:112184200-112185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:112184200-112188000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:112184200-112190600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:112184200-112191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:112184400-112185600	Genic enhancers	GM12878-XiMat	blood
30	chr3:112184600-112185400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:112184600-112185600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:112184600-112185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:112184600-112187200	Genic enhancers	Primary T cells from cord blood	blood
34	chr3:112184800-112185200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr3:112184800-112185200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:112184800-112185400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:112184800-112185800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:112184800-112186400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:112185000-112185200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:112185000-112185200	Enhancers	Small Intestine	intestine
41	chr3:112185000-112185400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr3:112185000-112185400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:112185000-112185400	Enhancers	Brain Angular Gyrus	brain
44	chr3:112185000-112185400	Enhancers	Brain Cingulate Gyrus	brain
45	chr3:112185000-112185400	Enhancers	Brain Hippocampus Middle	brain
46	chr3:112185000-112185400	Enhancers	Brain Substantia Nigra	brain
47	chr3:112185000-112185400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr3:112185000-112185600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr3:112185000-112185600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:112185000-112190600	Weak transcription	Primary monocytes fromperipheralblood	blood

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