Variant report

Variant	rs10865520
Chromosome Location	chr2:30785395-30785396
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	chr2:30453060..30454575-chr2:30784825..30787236,2	K562	blood:
2	chr2:30784836..30788020-chr2:30789591..30793366,5	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167083	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10183928	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1096109	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11127278	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053428	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468064	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252631	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252640	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252651	0.82[EUR][1000 genomes]
rs1447186	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1447187	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470533	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470534	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470536	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525062	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1662946	0.80[EUR][1000 genomes]
rs1869423	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869424	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869429	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975555	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121600	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123753	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177698	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266377	0.82[EUR][1000 genomes]
rs2593440	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593442	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593443	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593448	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593452	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593455	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593458	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593459	0.87[EUR][1000 genomes]
rs2593460	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593461	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593462	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593464	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593465	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593466	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593474	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602767	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602780	0.88[EUR][1000 genomes]
rs2602782	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602783	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602784	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602785	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602786	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602789	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602790	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602791	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602792	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602798	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602799	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602806	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602807	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609917	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609924	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609925	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609926	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609943	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609945	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609950	0.85[EUR][1000 genomes]
rs2609952	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609955	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609956	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609958	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862977	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6731031	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740440	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858978	0.81[AFR][1000 genomes]
rs7566983	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572318	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583211	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591110	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592355	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605994	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829563	0.83[EUR][1000 genomes]
rs829564	0.82[EUR][1000 genomes]
rs829581	0.82[EUR][1000 genomes]
rs829616	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829617	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829629	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829630	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829632	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829635	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829637	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829639	0.82[EUR][1000 genomes]
rs829653	0.84[EUR][1000 genomes]
rs829660	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829664	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829681	0.85[EUR][1000 genomes]
rs829684	0.84[EUR][1000 genomes]
rs860487	0.82[EUR][1000 genomes]
rs866680	0.85[EUR][1000 genomes]
rs895662	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895665	0.91[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30759200-30805600	Weak transcription	K562	blood
7	chr2:30759600-30786000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30773400-30792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:30774200-30793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:30774600-30790200	Weak transcription	A549	lung
14	chr2:30774600-30790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
16	chr2:30775000-30785600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:30775600-30785600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
19	chr2:30777400-30786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:30779400-30786000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:30781000-30786600	Weak transcription	NHDF-Ad	bronchial
22	chr2:30781200-30795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:30781400-30788600	Weak transcription	Pancreas	Pancrea
24	chr2:30781800-30788600	Weak transcription	Ovary	ovary
25	chr2:30782600-30788000	Weak transcription	NHLF	lung
26	chr2:30782800-30790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:30783000-30788800	Weak transcription	Fetal Heart	heart
28	chr2:30783000-30793000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:30783400-30786400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:30783400-30788600	Weak transcription	Osteobl	bone
31	chr2:30783400-30791800	Weak transcription	NHEK	skin
32	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
33	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:30783600-30785600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:30783600-30788600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:30783600-30788600	Weak transcription	Adipose Nuclei	Adipose
37	chr2:30783600-30789400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:30783800-30788000	Weak transcription	Psoas Muscle	Psoas
39	chr2:30783800-30793000	Weak transcription	Fetal Stomach	stomach
40	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:30784000-30785600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:30784000-30791800	Weak transcription	Fetal Kidney	kidney
44	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:30784000-30812200	Weak transcription	NH-A	brain
46	chr2:30784200-30786400	Strong transcription	Primary T cells from cord blood	blood
47	chr2:30784200-30793400	Strong transcription	Primary B cells from cord blood	blood
48	chr2:30784400-30786600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr2:30784400-30787600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:30784400-30788000	Weak transcription	Right Ventricle	heart

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