Variant report

Variant	rs28576692
Chromosome Location	chr2:234070233-234070234
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	chr2:234070034-234070422	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:234070228-234070478	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:234070017-234070818	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:234070042-234070509	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:234070018-234070386	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
INPP5D	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10754947	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12694928	0.81[AMR][1000 genomes]
rs28429042	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28459768	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478933	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534487	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615641	0.83[ASN][1000 genomes]
rs28631646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655385	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28669088	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35349669	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35877172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585024	0.83[ASN][1000 genomes]
rs55801407	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192874	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431237	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431239	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6715767	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6737719	0.83[ASN][1000 genomes]
rs67498812	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558417	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7559212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568389	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7570320	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7577360	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7581787	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7597516	0.81[AMR][1000 genomes]
rs7597763	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607736	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607812	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234052400-234074400	Weak transcription	Colonic Mucosa	Colon
2	chr2:234052600-234088400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:234053400-234077600	Weak transcription	Left Ventricle	heart
4	chr2:234053600-234076800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:234053600-234076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:234053600-234077000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:234053800-234070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:234053800-234071400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:234053800-234071400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:234053800-234071400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:234053800-234072400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:234053800-234072600	Strong transcription	Primary B cells from cord blood	blood
13	chr2:234053800-234073000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:234053800-234073000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:234053800-234073200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:234053800-234073200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:234053800-234073400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:234053800-234086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:234053800-234087800	Strong transcription	Fetal Thymus	thymus
20	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
23	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:234054000-234073600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
26	chr2:234054600-234076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:234056400-234074200	Weak transcription	Fetal Intestine Small	intestine
29	chr2:234056600-234078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:234056800-234077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:234057200-234077000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:234059000-234073800	Weak transcription	Gastric	stomach
34	chr2:234060000-234087800	Weak transcription	NHEK	skin
35	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
36	chr2:234061800-234074000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:234061800-234087600	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:234062200-234072400	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:234062600-234084600	Strong transcription	GM12878-XiMat	blood
41	chr2:234064400-234073000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:234065400-234070400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:234065400-234075400	Strong transcription	HepG2	liver
44	chr2:234065600-234071400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:234066400-234073800	Strong transcription	HMEC	breast
46	chr2:234066600-234070600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:234067000-234071600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:234067000-234072400	Strong transcription	Placenta	Placenta
49	chr2:234067400-234074600	Weak transcription	HUVEC	blood vessel
50	chr2:234067800-234078400	Weak transcription	Right Ventricle	heart

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