Variant report

Variant	rs11951657
Chromosome Location	chr5:7908900-7908901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1078381	0.95[ASN][1000 genomes]
rs13163363	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13183229	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1532268	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs17245337	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1802059	0.90[CHB][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2170502	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388771	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2892595	0.95[ASN][1000 genomes]
rs35400615	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815743	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs60014260	1.00[ASN][1000 genomes]
rs61161611	1.00[ASN][1000 genomes]
rs62342557	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66731631	1.00[ASN][1000 genomes]
rs67030816	0.90[ASN][1000 genomes]
rs67704418	0.93[ASN][1000 genomes]
rs716537	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7703296	1.00[ASN][1000 genomes]
rs7704200	1.00[ASN][1000 genomes]
rs7715062	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv508345	chr5:7890892-7933471	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7874000-7909200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:7895400-7909600	Weak transcription	Fetal Heart	heart
4	chr5:7899600-7910000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:7899600-7912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:7899800-7909200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:7899800-7909200	Weak transcription	Esophagus	oesophagus
8	chr5:7900000-7909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:7900000-7914600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:7900600-7909200	Weak transcription	Gastric	stomach
11	chr5:7902200-7909000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:7902400-7909000	Weak transcription	Aorta	Aorta
13	chr5:7902400-7909000	Weak transcription	Right Ventricle	heart
14	chr5:7902400-7909000	Weak transcription	K562	blood
15	chr5:7902400-7910200	Weak transcription	Fetal Brain Male	brain
16	chr5:7902400-7910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:7902400-7911200	Weak transcription	Fetal Kidney	kidney
18	chr5:7902800-7911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:7903400-7909000	Weak transcription	Colonic Mucosa	Colon
20	chr5:7903400-7909200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr5:7903400-7911000	Weak transcription	Fetal Thymus	thymus
22	chr5:7903600-7909000	Weak transcription	Brain Angular Gyrus	brain
23	chr5:7903600-7909200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:7903600-7916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:7903800-7913600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:7904000-7909000	Weak transcription	Lung	lung
27	chr5:7904000-7909000	Weak transcription	Spleen	Spleen
28	chr5:7904000-7911400	Weak transcription	Small Intestine	intestine
29	chr5:7904200-7909000	Weak transcription	Placenta	Placenta
30	chr5:7904200-7909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:7904200-7909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:7904200-7910800	Weak transcription	Thymus	Thymus
33	chr5:7904200-7912000	Weak transcription	Pancreas	Pancrea
34	chr5:7904200-7912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:7904400-7909000	Weak transcription	Brain Germinal Matrix	brain
36	chr5:7904400-7909000	Weak transcription	Left Ventricle	heart
37	chr5:7904400-7909200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:7904400-7909800	Weak transcription	Hela-S3	cervix
39	chr5:7904400-7911000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:7904400-7912400	Weak transcription	HMEC	breast
41	chr5:7904400-7915800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:7904600-7909600	Strong transcription	A549	lung
43	chr5:7904800-7915400	Weak transcription	Osteobl	bone
44	chr5:7905000-7909000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:7905000-7909200	Weak transcription	Ovary	ovary
46	chr5:7905000-7909600	Strong transcription	HSMM	muscle
47	chr5:7905000-7912000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:7905600-7909000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:7906200-7916400	Weak transcription	NHEK	skin
50	chr5:7907000-7910000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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