Variant report

Variant	rs2993532
Chromosome Location	chr1:212188646-212188647
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	NR2F2	chr1:212188634-212189089	K562	blood:	n/a	n/a
2	NR3C1	chr1:212188613-212189054	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212179396..212181561-chr1:212187532..212189162,2	K562	blood:
2	chr1:212185877..212190024-chr1:212207469..212210264,3	MCF-7	breast:
3	chr1:212186805..212188937-chr1:212600991..212603530,2	K562	blood:

Variant related genes	Relation type
INTS7	TF binding region
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10863933	0.82[EUR][1000 genomes]
rs10863934	0.82[EUR][1000 genomes]
rs10863938	0.82[EUR][1000 genomes]
rs10863940	0.82[EUR][1000 genomes]
rs2788128	0.94[EUR][1000 genomes]
rs2788129	0.94[EUR][1000 genomes]
rs2788130	0.94[EUR][1000 genomes]
rs2788131	0.94[EUR][1000 genomes]
rs2788134	0.88[EUR][1000 genomes]
rs2788135	0.94[EUR][1000 genomes]
rs2788136	0.94[EUR][1000 genomes]
rs2788137	0.94[EUR][1000 genomes]
rs2788141	0.86[EUR][1000 genomes]
rs2788142	0.86[EUR][1000 genomes]
rs2788144	0.86[EUR][1000 genomes]
rs2788146	0.86[EUR][1000 genomes]
rs2808376	0.86[EUR][1000 genomes]
rs2808377	0.86[EUR][1000 genomes]
rs2808380	0.94[EUR][1000 genomes]
rs2808383	0.86[EUR][1000 genomes]
rs2808384	0.94[EUR][1000 genomes]
rs2808387	0.94[EUR][1000 genomes]
rs2808390	0.94[EUR][1000 genomes]
rs2970573	0.94[EUR][1000 genomes]
rs2970574	0.94[EUR][1000 genomes]
rs2970575	0.94[EUR][1000 genomes]
rs2970576	0.86[EUR][1000 genomes]
rs2970581	0.86[EUR][1000 genomes]
rs2970585	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2970586	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2970588	0.80[AFR][1000 genomes]
rs2970590	0.82[EUR][1000 genomes]
rs2970591	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2970594	0.82[EUR][1000 genomes]
rs2970596	0.82[EUR][1000 genomes]
rs2970597	0.82[EUR][1000 genomes]
rs2970598	0.82[EUR][1000 genomes]
rs2970600	1.00[EUR][1000 genomes]
rs2970602	1.00[EUR][1000 genomes]
rs2993524	0.82[EUR][1000 genomes]
rs2993525	0.82[EUR][1000 genomes]
rs2993526	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2993527	0.82[EUR][1000 genomes]
rs2993530	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993536	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993537	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993540	0.94[EUR][1000 genomes]
rs2993542	0.94[EUR][1000 genomes]
rs2993543	0.86[EUR][1000 genomes]
rs2993546	0.82[EUR][1000 genomes]
rs2993549	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3009983	0.82[EUR][1000 genomes]
rs3009986	1.00[EUR][1000 genomes]
rs3009990	1.00[EUR][1000 genomes]
rs3009992	1.00[EUR][1000 genomes]
rs3009993	1.00[EUR][1000 genomes]
rs3009994	1.00[EUR][1000 genomes]
rs3009995	1.00[EUR][1000 genomes]
rs3009996	1.00[EUR][1000 genomes]
rs3009998	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3009999	1.00[EUR][1000 genomes]
rs3010000	1.00[EUR][1000 genomes]
rs3010001	1.00[EUR][1000 genomes]
rs3010005	1.00[EUR][1000 genomes]
rs3010008	0.94[EUR][1000 genomes]
rs3010014	0.82[EUR][1000 genomes]
rs3010015	0.82[EUR][1000 genomes]
rs3010017	0.82[EUR][1000 genomes]
rs3010018	0.82[EUR][1000 genomes]
rs3010019	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3010020	0.82[EUR][1000 genomes]
rs3010021	0.82[EUR][1000 genomes]
rs3010022	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4951437	0.82[EUR][1000 genomes]
rs6540717	0.82[EUR][1000 genomes]
rs6656826	0.82[EUR][1000 genomes]
rs6658972	0.81[EUR][1000 genomes]
rs6672030	0.82[EUR][1000 genomes]
rs6683980	0.82[EUR][1000 genomes]
rs6704044	0.82[EUR][1000 genomes]
rs7532954	0.82[EUR][1000 genomes]
rs7551276	0.82[EUR][1000 genomes]

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212112800-212202000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:212123800-212198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:212129400-212204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:212133800-212208000	Weak transcription	Gastric	stomach
5	chr1:212134000-212207600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:212134000-212207800	Weak transcription	Colonic Mucosa	Colon
7	chr1:212136600-212204000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:212148800-212207600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:212149200-212199800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:212152800-212201600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:212153400-212203600	Weak transcription	Psoas Muscle	Psoas
12	chr1:212153600-212202600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:212160000-212189400	Weak transcription	NHDF-Ad	bronchial
14	chr1:212160200-212199800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:212160200-212202600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:212161200-212189200	Weak transcription	NH-A	brain
17	chr1:212170200-212191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:212170200-212197600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:212170400-212202600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:212170600-212194200	Weak transcription	Placenta	Placenta
21	chr1:212170800-212199200	Weak transcription	Pancreas	Pancrea
22	chr1:212170800-212207800	Weak transcription	Right Ventricle	heart
23	chr1:212171000-212189400	Weak transcription	Brain Anterior Caudate	brain
24	chr1:212171000-212199800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:212171200-212189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:212171200-212197800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:212171200-212208000	Weak transcription	Esophagus	oesophagus
28	chr1:212171200-212208000	Weak transcription	Lung	lung
29	chr1:212171400-212197800	Weak transcription	Aorta	Aorta
30	chr1:212171600-212189400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:212171600-212198000	Weak transcription	Fetal Kidney	kidney
32	chr1:212171600-212198200	Weak transcription	Small Intestine	intestine
33	chr1:212171600-212207400	Weak transcription	Fetal Stomach	stomach
34	chr1:212171800-212191400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:212171800-212197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:212171800-212207600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:212172200-212199800	Weak transcription	Stomach Mucosa	stomach
38	chr1:212173000-212204200	Weak transcription	Fetal Heart	heart
39	chr1:212176600-212189200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:212180400-212206800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:212180600-212190600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:212180800-212189200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:212180800-212189600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:212180800-212204000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:212181000-212189400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:212181000-212189600	Weak transcription	Adipose Nuclei	Adipose
47	chr1:212181000-212193000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:212181000-212197800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:212181600-212193800	Weak transcription	Ovary	ovary
50	chr1:212181600-212198000	Weak transcription	NHLF	lung

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