Variant report

Variant	rs2593445
Chromosome Location	chr2:30848278-30848279
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	chr2:30842622..30844913-chr2:30847177..30849056,2	K562	blood:

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

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

rs_ID	r²[population]
rs1060737	0.82[CHB][hapmap]
rs11127281	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11692096	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11895131	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11901266	0.91[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1252627	0.91[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1252632	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1252633	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1252634	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1252635	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][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];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17395007	0.91[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17395091	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1807334	0.82[CHB][hapmap]
rs1869422	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2244911	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250956	0.82[CHB][hapmap]
rs2253299	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs2262947	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593431	0.96[ASN][1000 genomes]
rs2593436	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2593446	0.85[CHB][hapmap]
rs2593473	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2602781	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602795	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2602796	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602797	1.00[ASN][1000 genomes]
rs2602803	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2602809	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2609919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609944	0.82[CHB][hapmap]
rs2609957	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609961	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs711241	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs73922662	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7559747	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs829566	0.91[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs829568	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs829621	0.91[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs829624	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs829625	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs829633	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs829640	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs829643	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs829652	0.91[CEU][hapmap];0.85[CHB][hapmap];0.86[YRI][hapmap]
rs829656	1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs829657	0.84[EUR][1000 genomes]
rs829674	0.91[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs829676	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs829683	0.91[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs829685	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs829688	0.85[ASN][1000 genomes]
rs829692	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs829697	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:47 , 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	chr2:30832000-30848600	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	chr2:30836000-30854000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:30836000-30855200	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:30837600-30863000	Weak transcription	HepG2	liver
16	chr2:30838400-30850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:30839000-30854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:30839400-30849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:30839400-30850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:30840000-30861600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
22	chr2:30843400-30864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:30844800-30852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:30845000-30852800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:30845000-30853600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:30845200-30850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:30845200-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:30845200-30855200	Weak transcription	Primary B cells from cord blood	blood
29	chr2:30845400-30849400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:30845400-30853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:30845400-30862600	Weak transcription	Left Ventricle	heart
32	chr2:30845400-30862800	Weak transcription	Right Ventricle	heart
33	chr2:30845400-30863000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:30845600-30852800	Weak transcription	Primary T cells from cord blood	blood
35	chr2:30845600-30853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:30845600-30854000	Weak transcription	Fetal Thymus	thymus
37	chr2:30845600-30861200	Weak transcription	Fetal Lung	lung
38	chr2:30845600-30861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:30845600-30861600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:30845600-30863000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:30845600-30863000	Weak transcription	A549	lung
42	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:30846200-30863000	Weak transcription	Fetal Intestine Large	intestine
45	chr2:30847800-30848600	Enhancers	GM12878-XiMat	blood
46	chr2:30848000-30850200	Enhancers	Fetal Heart	heart
47	chr2:30848200-30849600	Enhancers	Pancreatic Islets	Pancreatic Islet

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