Variant report

Variant	rs1252631
Chromosome Location	chr2:30760754-30760755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30759172..30762525-chr2:30767223..30769886,4	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175399	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10183928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865520	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1096109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127278	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252625	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252646	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1252651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1252654	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1447186	0.88[EUR][1000 genomes]
rs1447187	0.88[EUR][1000 genomes]
rs1470533	0.87[EUR][1000 genomes]
rs1470534	0.88[EUR][1000 genomes]
rs1470536	0.88[EUR][1000 genomes]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1662946	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1869423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869429	0.87[EUR][1000 genomes]
rs1975555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2266377	0.81[EUR][1000 genomes]
rs2593440	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593443	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593448	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593452	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2593455	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2593458	0.88[EUR][1000 genomes]
rs2593459	0.86[EUR][1000 genomes]
rs2593460	0.88[EUR][1000 genomes]
rs2593461	0.88[EUR][1000 genomes]
rs2593462	0.88[EUR][1000 genomes]
rs2593464	0.87[EUR][1000 genomes]
rs2593465	0.87[EUR][1000 genomes]
rs2593466	0.88[EUR][1000 genomes]
rs2593474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602780	0.87[EUR][1000 genomes]
rs2602782	0.86[EUR][1000 genomes]
rs2602783	0.88[EUR][1000 genomes]
rs2602784	0.88[EUR][1000 genomes]
rs2602785	0.88[EUR][1000 genomes]
rs2602786	0.88[EUR][1000 genomes]
rs2602789	0.86[EUR][1000 genomes]
rs2602790	0.88[EUR][1000 genomes]
rs2602791	0.88[EUR][1000 genomes]
rs2602792	0.88[EUR][1000 genomes]
rs2602798	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602799	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602806	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602807	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609924	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609925	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609926	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609943	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609945	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2609950	0.84[EUR][1000 genomes]
rs2609952	0.88[EUR][1000 genomes]
rs2609955	0.88[EUR][1000 genomes]
rs2609956	0.88[EUR][1000 genomes]
rs2609958	0.88[EUR][1000 genomes]
rs3862977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6731031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6759011	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566983	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572318	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7592355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7605994	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7606200	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829563	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs829564	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs829574	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829581	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829582	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829616	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829617	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829618	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829619	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829620	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829622	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829629	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829639	0.83[EUR][1000 genomes]
rs829641	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829642	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829646	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829653	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs829654	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829655	0.85[JPT][hapmap]
rs829659	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829660	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829661	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829669	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829671	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829672	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829673	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829675	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829677	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829679	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829680	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs829682	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs829684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs829695	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829696	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs829699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs844194	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs860487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs866680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs895662	0.88[EUR][1000 genomes]
rs895665	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:30743000-30761000	Weak transcription	NHEK	skin
4	chr2:30743000-30763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:30743000-30764600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:30743000-30764600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:30743000-30767400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30743000-30768000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:30743200-30760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:30751000-30760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:30751000-30766800	Weak transcription	NHLF	lung
13	chr2:30753000-30761000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:30753600-30770000	Weak transcription	Small Intestine	intestine
15	chr2:30753800-30768600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:30758400-30765800	Weak transcription	Aorta	Aorta
19	chr2:30758600-30761400	Weak transcription	Ovary	ovary
20	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
21	chr2:30758800-30784400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:30758800-30785000	Weak transcription	Left Ventricle	heart
23	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:30759000-30761200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:30759000-30785200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:30759200-30760800	Weak transcription	Right Ventricle	heart
27	chr2:30759200-30762200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:30759200-30767600	Weak transcription	Fetal Kidney	kidney
29	chr2:30759200-30805600	Weak transcription	K562	blood
30	chr2:30759400-30761000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:30759400-30763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:30759400-30763600	Weak transcription	Fetal Thymus	thymus
33	chr2:30759400-30764400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:30759400-30764400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:30759400-30764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:30759400-30767000	Weak transcription	Fetal Heart	heart
37	chr2:30759400-30769600	Weak transcription	HepG2	liver
38	chr2:30759400-30785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:30759400-30785000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:30759400-30785000	Weak transcription	Dnd41	blood
41	chr2:30759600-30763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:30759600-30763800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:30759600-30764000	Weak transcription	Primary B cells from cord blood	blood
44	chr2:30759600-30764400	Weak transcription	HSMM	muscle
45	chr2:30759600-30764600	Weak transcription	Primary T cells from cord blood	blood
46	chr2:30759600-30771200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:30759800-30764000	Weak transcription	A549	lung
49	chr2:30760600-30760800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:30760600-30763800	Weak transcription	Fetal Lung	lung

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