Variant report

Variant	rs2602798
Chromosome Location	chr2:30849906-30849907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30849068..30850871-chr2:30861808..30864267,2	K562	blood:
2	chr2:30848701..30851520-chr2:30857233..30859467,2	K562	blood:
3	chr2:30842622..30844929-chr2:30848686..30850869,3	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10167083	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10183928	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865520	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096109	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11127278	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053428	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468064	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252631	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252640	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12999917	0.82[AFR][1000 genomes]
rs1447186	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1447187	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470533	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470534	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470536	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525062	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869423	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869424	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869429	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975555	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121600	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123753	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177698	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266377	0.83[EUR][1000 genomes]
rs2593440	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593442	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593443	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593448	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593452	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593455	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593458	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593459	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2593460	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593461	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593462	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593464	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593465	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593466	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593474	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602767	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602780	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2602782	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602783	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602784	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602785	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602786	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602789	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602790	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602791	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602792	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602799	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602806	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602807	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609917	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609924	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609925	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609926	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609943	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609945	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609950	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2609952	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609955	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609956	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609958	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862977	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62142163	0.82[AFR][1000 genomes]
rs6731031	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740440	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759011	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566983	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572318	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583211	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591110	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592355	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605994	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606200	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829616	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829617	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829629	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829630	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829632	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829635	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829637	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829660	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829664	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs895662	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895665	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:48 , 50 per page) page: 1

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	chr2:30811600-30863000	Weak transcription	Ovary	ovary
5	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
8	chr2:30835600-30851200	Weak transcription	HSMMtube	muscle
9	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
10	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:30837600-30863000	Weak transcription	HepG2	liver
13	chr2:30838400-30850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:30839400-30850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
18	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:30844800-30852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:30845000-30852800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:30845000-30853600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:30845200-30850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:30845200-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:30845200-30855200	Weak transcription	Primary B cells from cord blood	blood
25	chr2:30845400-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
27	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
28	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:30845600-30852800	Weak transcription	Primary T cells from cord blood	blood
30	chr2:30845600-30853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:30845600-30854000	Weak transcription	Fetal Thymus	thymus
32	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
33	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:30845600-30863000	Weak transcription	A549	lung
37	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine
40	chr2:30848000-30850200	Enhancers	Fetal Heart	heart
41	chr2:30848600-30851000	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:30848800-30850200	Enhancers	Brain Germinal Matrix	brain
43	chr2:30849000-30850000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:30849000-30863800	Weak transcription	K562	blood
45	chr2:30849600-30851400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:30849600-30851800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:30849800-30850400	Enhancers	Primary B cells from peripheral blood	blood
48	chr2:30849800-30851800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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