Variant report

Variant	rs7595816
Chromosome Location	chr2:53952178-53952179
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	chr2:53949409..53951180-chr2:53951221..53954133,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10181752	0.86[ASN][1000 genomes]
rs10181876	0.92[ASN][1000 genomes]
rs10185375	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs10187718	0.92[ASN][1000 genomes]
rs10190578	0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs10191950	0.94[ASN][1000 genomes]
rs10193711	0.87[ASN][1000 genomes]
rs10197062	0.85[ASN][1000 genomes]
rs10200897	0.94[ASN][1000 genomes]
rs10210726	0.91[ASN][1000 genomes]
rs10211188	0.92[ASN][1000 genomes]
rs10211650	0.94[ASN][1000 genomes]
rs10490470	0.92[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs11684574	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12612589	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs12613682	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs12616124	0.87[ASN][1000 genomes]
rs12616774	0.92[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs12617360	0.92[ASN][1000 genomes]
rs12617668	0.84[ASN][1000 genomes]
rs12620190	0.83[ASN][1000 genomes]
rs12620208	0.83[ASN][1000 genomes]
rs12620325	0.91[ASN][1000 genomes]
rs12621547	0.87[ASN][1000 genomes]
rs12621557	0.88[ASN][1000 genomes]
rs12621635	0.83[CHB][hapmap];0.90[CHD][hapmap];0.88[ASN][1000 genomes]
rs13383167	0.86[ASN][1000 genomes]
rs13393197	0.85[ASN][1000 genomes]
rs13414183	0.92[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs13414472	0.92[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.88[ASN][1000 genomes]
rs13415842	0.84[ASN][1000 genomes]
rs13421512	0.89[ASN][1000 genomes]
rs13423576	0.91[ASN][1000 genomes]
rs17045114	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17045116	0.84[ASN][1000 genomes]
rs17045125	0.91[ASN][1000 genomes]
rs17045215	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs2009149	0.91[ASN][1000 genomes]
rs2080721	0.86[CEU][hapmap]
rs2272249	0.87[CHD][hapmap];0.81[GIH][hapmap]
rs2287344	0.83[CHB][hapmap];0.94[CHD][hapmap];0.83[ASN][1000 genomes]
rs2287345	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs2287512	0.87[CHD][hapmap];0.90[JPT][hapmap]
rs2357491	0.91[CHD][hapmap]
rs28439002	0.87[ASN][1000 genomes]
rs3755120	0.90[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3770398	0.93[ASN][1000 genomes]
rs3770400	0.92[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs3770401	0.83[CHB][hapmap];0.87[CHD][hapmap];0.91[ASN][1000 genomes]
rs3821080	0.92[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs3850345	0.84[ASN][1000 genomes]
rs55839073	0.85[ASN][1000 genomes]
rs6705484	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6712204	0.92[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs6714424	0.92[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs6717642	0.95[ASN][1000 genomes]
rs72793658	0.87[ASN][1000 genomes]
rs7568771	0.85[ASN][1000 genomes]
rs7582542	0.95[ASN][1000 genomes]
rs7586686	0.92[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs7595713	0.83[CHB][hapmap];0.92[ASN][1000 genomes]
rs7609067	0.92[CHB][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv1844655	chr2:53929855-53972693	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53898000-53957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
3	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
6	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
7	chr2:53927600-53960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:53936600-53968400	Weak transcription	Pancreas	Pancrea
9	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
10	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:53937200-53954000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:53937200-53955800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:53937200-53961400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:53937200-53964400	Weak transcription	Aorta	Aorta
17	chr2:53937200-53966800	Weak transcription	Gastric	stomach
18	chr2:53937200-53978600	Weak transcription	NH-A	brain
19	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
20	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:53937400-53954000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:53937400-53964000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:53937600-53961600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:53937800-53957000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:53938000-53956400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:53938000-53961400	Weak transcription	NHEK	skin
30	chr2:53938000-53974800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:53938000-53974800	Weak transcription	Placenta	Placenta
32	chr2:53938200-53967000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:53938200-53975200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:53938400-53963600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:53938400-53969400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:53938400-53969600	Weak transcription	Esophagus	oesophagus
37	chr2:53938400-53975000	Weak transcription	Fetal Kidney	kidney
38	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
40	chr2:53938400-53992400	Weak transcription	K562	blood
41	chr2:53938600-53954400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:53938600-53955200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:53938600-53961000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:53938600-53972000	Weak transcription	HSMM	muscle
45	chr2:53939000-53954000	Weak transcription	Lung	lung
46	chr2:53939000-53954000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:53940600-53957400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:53941000-53952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:53941600-53956400	Weak transcription	GM12878-XiMat	blood
50	chr2:53941800-53956400	Weak transcription	Brain Angular Gyrus	brain

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