Variant report

Variant	rs2993536
Chromosome Location	chr1:212154930-212154931
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	KAP1	chr1:212154842-212155148	K562	blood:	n/a	n/a

Variant related genes	Relation type
INTS7	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10863933	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10863934	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10863938	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10863940	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1418047	1.00[CEU][hapmap]
rs1586660	1.00[TSI][hapmap]
rs2000168	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs2105322	1.00[CEU][hapmap]
rs2788128	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788129	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788130	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788131	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788134	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2788135	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[EUR][1000 genomes]
rs2788136	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788137	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788141	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2788142	1.00[CEU][hapmap];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	0.81[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2808383	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2808384	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2808387	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2808388	1.00[TSI][hapmap]
rs2808390	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970573	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970574	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970575	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970576	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970581	0.86[EUR][1000 genomes]
rs2970585	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970586	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970588	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970590	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970591	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970596	0.82[EUR][1000 genomes]
rs2970597	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970598	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970600	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993525	1.00[CEU][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993526	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993527	1.00[CEU][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993532	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2993535	1.00[TSI][hapmap]
rs2993537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993540	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993542	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993543	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2993546	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993548	1.00[AMR][1000 genomes]
rs2993549	1.00[CEU][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009983	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009986	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009990	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009994	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009995	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3010008	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010015	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010017	1.00[CEU][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010018	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010019	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010020	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010021	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010022	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010029	1.00[TSI][hapmap]
rs4397712	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4951430	1.00[CEU][hapmap]
rs4951437	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4951565	1.00[AMR][1000 genomes]
rs6540717	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6540718	1.00[AMR][1000 genomes]
rs6656826	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6658972	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6660399	1.00[AMR][1000 genomes]
rs6672030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6683980	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6704044	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7517565	1.00[CEU][hapmap]
rs7532954	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7545292	1.00[TSI][hapmap]
rs7551276	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212112000-212170200	Weak transcription	Small Intestine	intestine
2	chr1:212112800-212202000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:212113600-212170200	Weak transcription	Fetal Brain Male	brain
4	chr1:212114200-212185800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:212123600-212159200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:212123800-212198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:212125400-212170400	Weak transcription	Brain Anterior Caudate	brain
8	chr1:212125600-212159200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:212125600-212160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:212126000-212157000	Weak transcription	HUVEC	blood vessel
11	chr1:212129000-212167800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:212129400-212204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:212130000-212157600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:212133200-212170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:212133400-212157000	Weak transcription	Esophagus	oesophagus
16	chr1:212133400-212159400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:212133400-212188200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:212133600-212158400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:212133600-212159000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:212133600-212159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:212133600-212159000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:212133600-212159800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:212133600-212170000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:212133600-212170200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:212133600-212174400	Weak transcription	Spleen	Spleen
26	chr1:212133800-212158400	Weak transcription	Fetal Intestine Small	intestine
27	chr1:212133800-212159200	Weak transcription	Thymus	Thymus
28	chr1:212133800-212160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:212133800-212170000	Weak transcription	Pancreas	Pancrea
30	chr1:212133800-212208000	Weak transcription	Gastric	stomach
31	chr1:212134000-212159000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:212134000-212159000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:212134000-212207600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:212134000-212207800	Weak transcription	Colonic Mucosa	Colon
35	chr1:212136600-212204000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:212137200-212162600	Strong transcription	Dnd41	blood
37	chr1:212138800-212157600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:212139000-212159400	Weak transcription	Ovary	ovary
39	chr1:212140400-212159400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:212143200-212155400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:212144000-212155800	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:212145400-212155800	Strong transcription	K562	blood
43	chr1:212146000-212185600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:212146200-212156400	Strong transcription	Fetal Thymus	thymus
45	chr1:212147000-212155800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:212147000-212161200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:212147800-212156000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:212147800-212156400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:212147800-212157400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:212147800-212157600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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