Variant report

Variant	rs1252651
Chromosome Location	chr2:30703758-30703759
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30702205..30704155-chr2:30801614..30803584,2	K562	blood:
2	chr2:30699042..30701340-chr2:30702714..30704387,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10175399	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10183928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10865520	0.82[EUR][1000 genomes]
rs1096109	0.83[EUR][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1252625	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs1252631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1252640	0.83[EUR][1000 genomes]
rs1252646	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs1252654	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1662946	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17009647	0.93[YRI][hapmap]
rs17009802	1.00[YRI][hapmap]
rs17009815	1.00[YRI][hapmap]
rs1869423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1869424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1975555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2121600	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2593442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2593474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2602767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2602808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2609945	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3862977	0.83[EUR][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs6718986	1.00[YRI][hapmap]
rs6731031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6740440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6761612	0.93[YRI][hapmap]
rs7566983	0.83[EUR][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7592355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7605994	0.81[EUR][1000 genomes]
rs829563	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829564	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829574	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829575	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs829581	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829582	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs829616	0.82[EUR][1000 genomes]
rs829617	0.82[EUR][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	0.81[AMR][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs829631	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs829634	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs829635	0.82[EUR][1000 genomes]
rs829637	0.83[EUR][1000 genomes]
rs829639	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	0.88[AMR][1000 genomes];0.82[EUR][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[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][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];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829682	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs829684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829694	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829695	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829696	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs829700	0.97[ASN][1000 genomes]
rs829701	0.90[ASN][1000 genomes]
rs844194	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs860487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30671600-30704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:30678400-30704200	Weak transcription	Fetal Stomach	stomach
3	chr2:30678600-30703800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:30678600-30710600	Weak transcription	NHLF	lung
5	chr2:30682400-30704400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30688400-30703800	Weak transcription	Left Ventricle	heart
7	chr2:30688400-30704200	Weak transcription	Aorta	Aorta
8	chr2:30688400-30704600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:30688600-30710000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:30693600-30704000	Weak transcription	A549	lung
11	chr2:30693600-30704000	Weak transcription	HepG2	liver
12	chr2:30695200-30707000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:30695400-30704400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:30695600-30704200	Weak transcription	Fetal Lung	lung
15	chr2:30695600-30705400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:30695800-30704000	Weak transcription	NHDF-Ad	bronchial
17	chr2:30695800-30704400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:30695800-30706600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:30696000-30704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:30696200-30710600	Weak transcription	Ovary	ovary
21	chr2:30697200-30704200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:30697400-30710400	Weak transcription	Fetal Kidney	kidney
23	chr2:30697800-30704200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:30697800-30720800	Weak transcription	Thymus	Thymus
25	chr2:30698000-30708000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:30698000-30709400	Weak transcription	Pancreas	Pancrea
27	chr2:30698200-30704200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:30698200-30704200	Weak transcription	Right Atrium	heart
29	chr2:30698200-30704400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:30698200-30710600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:30698400-30706800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:30698600-30704400	Weak transcription	Primary B cells from cord blood	blood
33	chr2:30699000-30704000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:30699000-30709600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:30699000-30711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:30699600-30709400	Weak transcription	Right Ventricle	heart
37	chr2:30699800-30704200	Weak transcription	Psoas Muscle	Psoas
38	chr2:30701200-30704400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:30701200-30705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:30701200-30714400	Weak transcription	HSMM	muscle
41	chr2:30701400-30704200	Weak transcription	Esophagus	oesophagus
42	chr2:30701600-30704200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:30702200-30704200	Weak transcription	Fetal Thymus	thymus
44	chr2:30702200-30704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:30702800-30704200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:30702800-30710400	Weak transcription	Primary T cells from cord blood	blood
47	chr2:30703400-30704200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:30703400-30704400	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:30703400-30704600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:30703400-30704600	Enhancers	HUES64 Cell Line	embryonic stem cell

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