Variant report

Variant	rs2262947
Chromosome Location	chr2:30845417-30845418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30827400..30830012-chr2:30843352..30845807,2	MCF-7	breast:
2	chr2:30825445..30827676-chr2:30844344..30846401,2	K562	blood:
3	chr2:30839405..30841839-chr2:30843015..30845480,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1036941	0.82[ASN][1000 genomes]
rs1060737	0.90[ASN][1000 genomes]
rs11127281	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11692096	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11895131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11901266	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252627	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1252632	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252633	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252634	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1252635	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1252642	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1252645	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1286	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1662943	0.82[ASN][1000 genomes]
rs1662945	0.84[ASN][1000 genomes]
rs17395007	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17395091	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1807334	0.90[ASN][1000 genomes]
rs1869422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244911	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2250956	0.90[ASN][1000 genomes]
rs2253299	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2593436	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2593445	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593446	0.87[ASN][1000 genomes]
rs2593473	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602781	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602795	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602797	0.83[ASN][1000 genomes]
rs2602803	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602809	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609919	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609920	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609944	0.90[ASN][1000 genomes]
rs2609957	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609961	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs711241	0.84[ASN][1000 genomes]
rs73922662	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7559747	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829566	0.84[ASN][1000 genomes]
rs829568	0.84[ASN][1000 genomes]
rs829621	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829624	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829625	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829633	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs829640	0.83[ASN][1000 genomes]
rs829643	0.84[ASN][1000 genomes]
rs829652	0.84[ASN][1000 genomes]
rs829656	0.84[EUR][1000 genomes]
rs829657	0.84[EUR][1000 genomes]
rs829674	0.84[ASN][1000 genomes]
rs829676	0.84[ASN][1000 genomes]
rs829678	0.84[ASN][1000 genomes]
rs829683	0.84[ASN][1000 genomes]
rs829685	0.84[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:52 , 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	chr2:30811600-30863000	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	chr2:30832000-30848600	Weak transcription	K562	blood
8	chr2:30834600-30863800	Weak transcription	Aorta	Aorta
9	chr2:30834800-30849400	Weak transcription	Pancreas	Pancrea
10	chr2:30835600-30851200	Weak transcription	HSMMtube	muscle
11	chr2:30835800-30848800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
13	chr2:30836000-30845600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:30836000-30848200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:30837600-30863000	Weak transcription	HepG2	liver
18	chr2:30838400-30850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:30839400-30849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:30839400-30850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
24	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:30844000-30845600	Strong transcription	Primary T cells from cord blood	blood
26	chr2:30844200-30845600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:30844200-30845800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:30844400-30845600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:30844400-30845600	Strong transcription	A549	lung
30	chr2:30844400-30845800	Strong transcription	Fetal Intestine Large	intestine
31	chr2:30844600-30845600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:30844800-30845600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:30844800-30845600	Genic enhancers	Fetal Thymus	thymus
34	chr2:30844800-30845600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:30844800-30845800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:30844800-30845800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:30844800-30852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:30845000-30845600	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr2:30845000-30845800	Enhancers	Fetal Heart	heart
40	chr2:30845000-30852800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:30845000-30853600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:30845200-30850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:30845200-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:30845200-30855200	Weak transcription	Primary B cells from cord blood	blood
45	chr2:30845400-30845600	Strong transcription	Fetal Lung	lung
46	chr2:30845400-30845600	ZNF genes & repeats	Fetal Stomach	stomach
47	chr2:30845400-30846400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:30845400-30849400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:30845400-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart

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