Variant report

Variant	rs3731835
Chromosome Location	chr2:182321179-182321180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:182321155-182323202	GM18951	blood:	n/a	n/a
2	RUNX3	chr2:182321094-182322321	GM12878	blood:	n/a	n/a
3	RAD21	chr2:182321149-182322969	SK-N-SH	brain:	n/a	chr2:182321712-182321719
4	ZEB1	chr2:182321111-182321638	GM12878	blood:	n/a	chr2:182321255-182321266 chr2:182321342-182321351
5	ZNF384	chr2:182321110-182321660	GM12878	blood:	n/a	n/a
6	CTCF	chr2:182321058-182322900	SK-N-SH	brain:	n/a	n/a
7	NFATC1	chr2:182321163-182323095	GM12878	blood:	n/a	n/a
8	NFIC	chr2:182321094-182322698	GM12878	blood:	n/a	n/a
9	RUNX3	chr2:182321133-182323108	GM12878	blood:	n/a	n/a
10	MAX	chr2:182320917-182324030	NB4	blood:	n/a	chr2:182321353-182321362
11	POLR2A	chr2:182321133-182323245	GM12892	blood:	n/a	n/a
12	MTA3	chr2:182321050-182323269	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:182321174-182329354	GM18505	blood:	n/a	n/a
14	POLR2A	chr2:182320845-182323361	NB4	blood:	n/a	n/a
15	POLR2A	chr2:182321116-182323364	HL-60	blood:	n/a	n/a
16	POLR2A	chr2:182320512-182331721	GM12891	blood:	n/a	n/a
17	POLR2A	chr2:182321154-182323175	GM12891	blood:	n/a	n/a
18	MTA3	chr2:182320370-182323215	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:182321177-182323996	GM12892	blood:	n/a	n/a
20	POLR2A	chr2:182321092-182326715	HL-60	blood:	n/a	n/a
21	PML	chr2:182321034-182323400	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:182321154-182323261	GM19193	blood:	n/a	n/a
23	PAX5	chr2:182321144-182322282	GM12878	blood:	n/a	chr2:182321549-182321558
24	FOXM1	chr2:182321009-182323236	GM12878	blood:	n/a	n/a
25	SPI1	chr2:182321125-182322321	GM12878	blood:	n/a	chr2:182321903-182321916 chr2:182321549-182321556 chr2:182321562-182321575
26	BCLAF1	chr2:182321099-182322956	GM12878	blood:	n/a	chr2:182321908-182321917 chr2:182321780-182321793

Variant related genes	Relation type
ITGA4	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10203703	0.95[AFR][1000 genomes]
rs10206693	1.00[YRI][hapmap]
rs1026404	1.00[MEX][hapmap]
rs12465604	1.00[MEX][hapmap]
rs12473700	1.00[MEX][hapmap]
rs13415157	1.00[YRI][hapmap]
rs1449258	1.00[MEX][hapmap]
rs1466109	1.00[MEX][hapmap]
rs2198729	1.00[MEX][hapmap]
rs2198732	1.00[MEX][hapmap]
rs4667315	1.00[MEX][hapmap]
rs6714695	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182318800-182321200	Enhancers	Thymus	Thymus
2	chr2:182319000-182321200	Enhancers	Dnd41	blood
3	chr2:182319200-182321200	Enhancers	Primary B cells from cord blood	blood
4	chr2:182319200-182321200	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:182319200-182321200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:182319400-182321200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:182319600-182321200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr2:182319600-182321400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:182319600-182321400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:182319800-182321200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:182319800-182321200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:182319800-182321200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:182319800-182321800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr2:182320000-182321200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:182320000-182321200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:182320200-182321600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:182320600-182321400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:182320600-182321400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr2:182320600-182321800	Flanking Active TSS	GM12878-XiMat	blood
20	chr2:182320600-182322000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:182320600-182322000	Enhancers	Spleen	Spleen
22	chr2:182320800-182321200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:182320800-182321200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:182320800-182321200	Enhancers	HSMMtube	muscle
25	chr2:182320800-182321600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:182320800-182321600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr2:182320800-182321600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:182320800-182321800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:182320800-182322000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:182321000-182321200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:182321000-182321200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr2:182321000-182321200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:182321000-182321200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:182321000-182321200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:182321000-182321200	Enhancers	Colonic Mucosa	Colon
36	chr2:182321000-182321200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr2:182321000-182321200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:182321000-182321200	Enhancers	NHLF	lung
39	chr2:182321000-182321400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr2:182321000-182321800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:182321000-182322000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr2:182321000-182322000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:182321000-182322000	Flanking Active TSS	Fetal Thymus	thymus

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