Variant report

Variant	rs2602807
Chromosome Location	chr2:30843651-30843652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30842622..30844913-chr2:30847177..30849056,2	K562	blood:
2	chr2:30842415..30844831-chr2:30884004..30885888,2	K562	blood:
3	chr2:30827400..30830012-chr2:30843352..30845807,2	MCF-7	breast:
4	chr2:30842622..30844929-chr2:30848686..30850869,3	MCF-7	breast:
5	chr2:30839405..30841839-chr2:30843015..30845480,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167083	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10183928	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10865520	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1096109	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11127278	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053428	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12468064	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1252631	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252640	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1447186	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1447187	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1470533	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1470534	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1470536	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1525062	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1662946	0.86[AMR][1000 genomes]
rs1869423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869424	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869429	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1975555	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2121600	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123753	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2177698	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2266377	0.85[EUR][1000 genomes]
rs2593440	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2593442	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593443	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593448	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2593452	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2593455	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2593458	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593459	0.93[EUR][1000 genomes]
rs2593460	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593461	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593462	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593464	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593465	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593466	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2593474	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602767	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602780	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2602782	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602783	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602784	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602785	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602786	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602789	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602790	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602791	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602792	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602798	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602799	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602806	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609917	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609925	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609926	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609943	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609945	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609950	0.92[EUR][1000 genomes]
rs2609952	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2609955	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2609956	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2609958	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3862977	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6731031	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6740440	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6759011	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7566983	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7572318	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583211	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7591110	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7592355	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7605994	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7606200	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs829564	0.86[AMR][1000 genomes]
rs829565	0.86[AMR][1000 genomes]
rs829581	0.86[AMR][1000 genomes]
rs829616	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829617	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829629	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs829630	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829632	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829635	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829637	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829660	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829664	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829684	0.86[AMR][1000 genomes]
rs895662	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs895665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:30811600-30863000	Weak transcription	Ovary	ovary
6	chr2:30825800-30844200	Weak transcription	Fetal Thymus	thymus
7	chr2:30831000-30844800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:30831600-30844800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:30832000-30848600	Weak transcription	K562	blood
12	chr2:30832800-30844200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:30834600-30844600	Weak transcription	Right Ventricle	heart
14	chr2:30834600-30844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
16	chr2:30834800-30844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:30834800-30849400	Weak transcription	Pancreas	Pancrea
18	chr2:30835600-30844600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:30835600-30844800	Weak transcription	Fetal Lung	lung
20	chr2:30835600-30851200	Weak transcription	HSMMtube	muscle
21	chr2:30835800-30844400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:30835800-30844400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:30835800-30844600	Weak transcription	Fetal Stomach	stomach
24	chr2:30835800-30848800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
26	chr2:30836000-30844000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:30836000-30844400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:30836000-30845600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:30836000-30848200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:30836200-30844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:30836200-30844200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:30836400-30844400	Weak transcription	Fetal Intestine Large	intestine
35	chr2:30836400-30845000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:30837600-30863000	Weak transcription	HepG2	liver
37	chr2:30838000-30844200	Weak transcription	Left Ventricle	heart
38	chr2:30838000-30844600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:30838200-30844400	Weak transcription	A549	lung
40	chr2:30838400-30844000	Weak transcription	Primary T cells from cord blood	blood
41	chr2:30838400-30850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:30839400-30849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:30839400-30850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:30841000-30844200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
48	chr2:30842200-30844600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:30842600-30844200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:30842800-30844400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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