Variant report

Variant	rs10754947
Chromosome Location	chr2:234078582-234078583
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	chr2:234078474-234078678	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:234078322-234078885	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:234078324-234079335	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:234078440-234078653	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:234078122-234079054	GM18505	blood:	n/a	n/a
6	POLR2A	chr2:234078254-234078843	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:234076872-234078904	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:234078376-234078680	GM12878	blood:	n/a	n/a
9	MAFK	chr2:234078450-234078588	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:234078281-234079122	K562	blood:	n/a	n/a

Variant related genes	Relation type
INPP5D	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12694926	0.82[AMR][1000 genomes]
rs12694928	0.84[AMR][1000 genomes]
rs13388142	0.82[AMR][1000 genomes]
rs28429042	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28459768	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28478933	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28534487	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28539971	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28576692	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28605534	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28609111	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28615641	1.00[ASN][1000 genomes]
rs28631646	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28655385	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28669088	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35349669	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35877172	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4585024	1.00[ASN][1000 genomes]
rs55801407	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62192874	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431237	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431239	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737719	1.00[ASN][1000 genomes]
rs67498812	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7558417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559212	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568027	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568389	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577360	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581787	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597516	0.84[AMR][1000 genomes]
rs7597763	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607736	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607812	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234052600-234088400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:234053800-234086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:234053800-234087800	Strong transcription	Fetal Thymus	thymus
4	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
7	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
9	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:234060000-234087800	Weak transcription	NHEK	skin
12	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:234061800-234087600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:234062600-234084600	Strong transcription	GM12878-XiMat	blood
16	chr2:234069800-234083400	Strong transcription	Thymus	Thymus
17	chr2:234071400-234079200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:234074200-234111200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:234074600-234122000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:234074800-234101000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr2:234075000-234100000	Weak transcription	HUVEC	blood vessel
22	chr2:234075200-234080400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:234075200-234082600	Weak transcription	Fetal Heart	heart
24	chr2:234075200-234087400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:234075200-234094200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:234075200-234111800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:234075200-234117000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:234075400-234080400	Weak transcription	Colonic Mucosa	Colon
29	chr2:234075400-234083000	Strong transcription	HMEC	breast
30	chr2:234075400-234087400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:234075400-234087400	Strong transcription	Spleen	Spleen
32	chr2:234075400-234087400	Weak transcription	K562	blood
33	chr2:234075400-234088000	Strong transcription	Primary B cells from cord blood	blood
34	chr2:234075400-234111200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:234075400-234113800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:234075400-234115200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr2:234075800-234078800	Enhancers	Brain Germinal Matrix	brain
38	chr2:234076000-234088000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:234076400-234087600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:234076400-234088000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:234076800-234081400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:234076800-234083200	Strong transcription	Dnd41	blood
43	chr2:234077000-234078600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:234077000-234079400	Strong transcription	Lung	lung
45	chr2:234077000-234080800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:234077000-234081200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:234077000-234081200	Strong transcription	Liver	Liver
48	chr2:234077000-234081200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:234077000-234081400	Strong transcription	Placenta	Placenta
50	chr2:234077000-234081600	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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