Variant report

Variant	rs7995216
Chromosome Location	chr13:49098336-49098337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49090774..49093179-chr13:49096004..49098974,2	K562	blood:
2	chr13:49097151..49098767-chr13:49101729..49104209,2	K562	blood:
3	chr13:49096194..49098388-chr13:49103789..49106979,3	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs12584784	0.87[EUR][1000 genomes]
rs1547660	0.97[ASN][1000 genomes]
rs17349061	1.00[EUR][1000 genomes]
rs174857	0.89[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs1926595	0.97[ASN][1000 genomes]
rs1926596	0.88[ASN][1000 genomes]
rs1926597	0.97[ASN][1000 genomes]
rs198564	0.82[ASN][1000 genomes]
rs198568	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs198571	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs198574	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs198575	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs198576	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs198577	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs198606	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs198609	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs198610	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs198614	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs198622	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2006125	1.00[EUR][1000 genomes]
rs2274400	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2804095	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs28414460	0.88[ASN][1000 genomes]
rs2854353	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2854357	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2854362	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs28646083	0.88[ASN][1000 genomes]
rs28674973	0.82[ASN][1000 genomes]
rs3092888	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3092898	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3092899	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs3751380	0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3825419	0.87[EUR][1000 genomes]
rs398158	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs403390	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs406098	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4151434	1.00[EUR][1000 genomes]
rs4151441	1.00[EUR][1000 genomes]
rs4151442	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4151448	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4151452	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs4151456	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs4151474	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes]
rs4151525	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs4151601	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap]
rs425834	0.89[CHB][hapmap]
rs427686	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs58658780	1.00[EUR][1000 genomes]
rs61074776	0.97[ASN][1000 genomes]
rs6561448	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6561457	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6561461	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7325962	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7329039	0.97[ASN][1000 genomes]
rs7329865	1.00[CEU][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7331851	1.00[CEU][hapmap]
rs7333985	1.00[EUR][1000 genomes]
rs7335353	1.00[EUR][1000 genomes]
rs73486867	0.97[ASN][1000 genomes]
rs73488925	1.00[EUR][1000 genomes]
rs73495016	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74075993	0.87[EUR][1000 genomes]
rs7985825	0.97[ASN][1000 genomes]
rs7987935	0.88[ASN][1000 genomes]
rs7992129	0.97[ASN][1000 genomes]
rs7996186	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs7996402	0.97[ASN][1000 genomes]
rs7998781	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8001241	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8002565	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs877664	1.00[EUR][1000 genomes]
rs9316385	0.95[ASN][1000 genomes]
rs9316401	0.97[ASN][1000 genomes]
rs9331959	0.88[ASN][1000 genomes]
rs9331965	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9331973	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9332054	1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap]
rs9591172	0.97[ASN][1000 genomes]
rs9591177	0.95[ASN][1000 genomes]
rs9591178	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:49068000-49105600	Weak transcription	Gastric	stomach
4	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
6	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:49080800-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
11	chr13:49083800-49105600	Weak transcription	Esophagus	oesophagus
12	chr13:49085000-49104800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:49085000-49104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:49085200-49100400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr13:49085200-49105600	Weak transcription	Fetal Thymus	thymus
16	chr13:49086200-49102200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:49086200-49102400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:49086200-49105600	Weak transcription	Lung	lung
19	chr13:49086200-49105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:49086200-49105600	Weak transcription	HSMMtube	muscle
21	chr13:49086400-49099200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:49086400-49101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr13:49086400-49101800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:49086400-49105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr13:49086400-49105600	Weak transcription	Brain Germinal Matrix	brain
26	chr13:49086400-49105600	Weak transcription	HUVEC	blood vessel
27	chr13:49086400-49106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:49086600-49105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:49087000-49104600	Weak transcription	Dnd41	blood
30	chr13:49087400-49105600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:49089200-49101600	Weak transcription	Liver	Liver
32	chr13:49089200-49105800	Weak transcription	Ovary	ovary
33	chr13:49089400-49105600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr13:49089600-49105600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr13:49090400-49105600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:49090600-49105000	Weak transcription	Brain Anterior Caudate	brain
37	chr13:49090800-49101600	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:49091400-49105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:49091600-49105600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:49091600-49105600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr13:49092000-49105600	Weak transcription	Psoas Muscle	Psoas
42	chr13:49092200-49100400	Weak transcription	Adipose Nuclei	Adipose
43	chr13:49092200-49105400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr13:49092600-49105600	Weak transcription	Fetal Stomach	stomach
45	chr13:49094600-49105400	Weak transcription	Fetal Muscle Leg	muscle
46	chr13:49094800-49101600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:49094800-49105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:49096000-49105400	Weak transcription	Fetal Lung	lung
49	chr13:49096200-49100200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:49096200-49101200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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