Variant report

Variant	rs10203703
Chromosome Location	chr2:182321448-182321449
allele	C/T
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	chr2:182321261-182323289	GM12878	blood:	n/a	n/a
2	RCOR1	chr2:182321325-182322285	GM12878	blood:	n/a	n/a
3	MAX	chr2:182321322-182323296	GM12878	blood:	n/a	chr2:182321353-182321362
4	CREB1	chr2:182321211-182322287	GM12878	blood:	n/a	n/a
5	NRF1	chr2:182321388-182322798	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr2:182321335-182321628	GM12878	blood:	n/a	n/a
7	YY1	chr2:182321196-182321690	GM12892	blood:	n/a	n/a
8	RELA	chr2:182321317-182322357	GM19193	blood:	n/a	n/a
9	BCL11A	chr2:182321303-182321687	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:182321194-182324105	GM12878	blood:	n/a	n/a
11	EBF1	chr2:182321340-182322011	GM12878	blood:	n/a	chr2:182321641-182321652 chr2:182321642-182321652
12	BCL11A	chr2:182321300-182321730	GM12878	blood:	n/a	n/a
13	SMC3	chr2:182321183-182322234	GM12878	blood:	n/a	n/a
14	RELA	chr2:182321275-182323185	GM18951	blood:	n/a	n/a
15	POLR2A	chr2:182321218-182323235	GM18526	blood:	n/a	n/a
16	POLR2A	chr2:182321259-182324033	GM15510	blood:	n/a	n/a
17	SPI1	chr2:182321305-182322085	GM12891	blood:	n/a	chr2:182321903-182321916 chr2:182321549-182321556 chr2:182321562-182321575
18	NFATC1	chr2:182321309-182322252	GM12878	blood:	n/a	n/a
19	SPI1	chr2:182321269-182322154	GM12891	blood:	n/a	chr2:182321903-182321916 chr2:182321549-182321556 chr2:182321562-182321575
20	ETS1	chr2:182321371-182321700	GM12878	blood:	n/a	chr2:182321549-182321563 chr2:182321550-182321557 chr2:182321567-182321578 chr2:182321562-182321576
21	BACH1	chr2:182321237-182322496	H1-hESC	embryonic stem cell:	n/a	n/a
22	ETS1	chr2:182321319-182322327	GM12878	blood:	n/a	chr2:182321549-182321563 chr2:182321550-182321557 chr2:182321567-182321578 chr2:182321562-182321576
23	MEF2A	chr2:182321231-182322228	GM12878	blood:	n/a	n/a
24	BCLAF1	chr2:182321245-182323100	GM12878	blood:	n/a	chr2:182321908-182321917 chr2:182321780-182321793
25	RAD21	chr2:182321380-182322802	SK-N-SH_RA	brain:	n/a	chr2:182321712-182321719
26	ZNF263	chr2:182321348-182323054	HEK293-T-REx	kidney:	n/a	chr2:182321560-182321569 chr2:182322812-182322821
27	TAF1	chr2:182321295-182321722	GM12878	blood:	n/a	n/a
28	BRCA1	chr2:182321399-182321507	GM12878	blood:	n/a	n/a
29	CTBP2	chr2:182321248-182323159	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT3	chr2:182321392-182321687	GM12878	blood:	n/a	n/a
31	PAX5	chr2:182321253-182321737	GM12878	blood:	n/a	chr2:182321549-182321558
32	POLR2A	chr2:182321262-182323185	GM12891	blood:	n/a	n/a
33	FOXM1	chr2:182321252-182322951	GM12878	blood:	n/a	n/a
34	PAX5	chr2:182321285-182321626	GM12892	blood:	n/a	chr2:182321549-182321558
35	POLR2A	chr2:182321155-182323202	GM18951	blood:	n/a	n/a
36	STAT5A	chr2:182321290-182321738	GM12878	blood:	n/a	n/a
37	NFIC	chr2:182321207-182322268	GM12878	blood:	n/a	n/a
38	EGR1	chr2:182321403-182321643	GM12878	blood:	n/a	chr2:182321549-182321558
39	CTCF	chr2:182321437-182321559	GM19238	blood:	n/a	n/a
40	RUNX3	chr2:182321094-182322321	GM12878	blood:	n/a	n/a
41	RAD21	chr2:182321149-182322969	SK-N-SH	brain:	n/a	chr2:182321712-182321719
42	POLR2A	chr2:182321408-182323301	GM12878	blood:	n/a	n/a
43	E2F6	chr2:182321280-182323114	H1-hESC	embryonic stem cell:	n/a	chr2:182322628-182322639 chr2:182322628-182322639 chr2:182322745-182322755
44	ZEB1	chr2:182321111-182321638	GM12878	blood:	n/a	chr2:182321255-182321266 chr2:182321342-182321351
45	KAP1	chr2:182321396-182322512	HEK293	kidney:	n/a	n/a
46	SPI1	chr2:182321204-182322910	HL-60	blood:	n/a	chr2:182321903-182321916 chr2:182321549-182321556 chr2:182321562-182321575
47	EP300	chr2:182321283-182321719	GM12878	blood:	n/a	chr2:182321523-182321539
48	SP1	chr2:182321329-182321695	GM12878	blood:	n/a	n/a
49	ATF2	chr2:182321209-182323049	GM12878	blood:	n/a	n/a
50	EP300	chr2:182321414-182321940	GM12878	blood:	n/a	chr2:182321523-182321539 chr2:182321790-182321803

Variant related genes	Relation type
ITGA4	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10209150	1.00[EUR][1000 genomes]
rs3731835	0.95[AFR][1000 genomes]
rs62191395	1.00[EUR][1000 genomes]
rs62191396	1.00[EUR][1000 genomes]
rs62191398	1.00[EUR][1000 genomes]
rs62191400	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62191401	1.00[EUR][1000 genomes]
rs62191402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62191403	1.00[EUR][1000 genomes]
rs62191404	1.00[EUR][1000 genomes]

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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182319800-182321800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr2:182320200-182321600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr2:182320600-182321800	Flanking Active TSS	GM12878-XiMat	blood
4	chr2:182320600-182322000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:182320600-182322000	Enhancers	Spleen	Spleen
6	chr2:182320800-182321600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:182320800-182321600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr2:182320800-182321600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:182320800-182321800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:182320800-182322000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:182321000-182321800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr2:182321000-182322000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr2:182321000-182322000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:182321000-182322000	Flanking Active TSS	Fetal Thymus	thymus
15	chr2:182321200-182321600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:182321200-182321600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr2:182321200-182321600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr2:182321200-182321600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr2:182321200-182321600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:182321200-182321600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:182321200-182321600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:182321200-182321600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr2:182321200-182321600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:182321200-182321600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
25	chr2:182321200-182321600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr2:182321200-182321600	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr2:182321200-182321600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:182321200-182321600	Flanking Active TSS	Thymus	Thymus
29	chr2:182321200-182321600	Flanking Active TSS	HSMMtube	muscle
30	chr2:182321200-182321600	Flanking Active TSS	NHLF	lung
31	chr2:182321200-182321800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:182321200-182321800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr2:182321200-182321800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr2:182321200-182321800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:182321200-182321800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:182321200-182321800	Enhancers	Lung	lung
37	chr2:182321200-182321800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
38	chr2:182321200-182322000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr2:182321200-182322000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr2:182321200-182322000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:182321200-182322000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:182321200-182322000	Flanking Active TSS	Dnd41	blood
43	chr2:182321200-182322200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:182321200-182322200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:182321200-182322200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr2:182321200-182322600	Flanking Active TSS	Colonic Mucosa	Colon
47	chr2:182321200-182322800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:182321200-182323000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr2:182321200-182323200	Enhancers	Fetal Heart	heart
50	chr2:182321200-182323400	Bivalent/Poised TSS	Fetal Kidney	kidney

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