Variant report

Variant	rs7995006
Chromosome Location	chr13:50113729-50113730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12428300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12429621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2296502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788913	0.84[AMR][1000 genomes]
rs73190749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190794	0.84[EUR][1000 genomes]
rs7324615	1.00[JPT][hapmap]
rs7335220	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9316456	0.82[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs9591288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9596137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
2	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:50086600-50114200	Weak transcription	Fetal Brain Female	brain
4	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
5	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
6	chr13:50089400-50114200	Weak transcription	Colon Smooth Muscle	Colon
7	chr13:50090000-50122800	Weak transcription	Ovary	ovary
8	chr13:50090000-50123600	Weak transcription	Esophagus	oesophagus
9	chr13:50090200-50114200	Weak transcription	Aorta	Aorta
10	chr13:50090200-50117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:50090400-50114200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:50091000-50114200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:50091400-50138800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:50092000-50114200	Weak transcription	Fetal Brain Male	brain
15	chr13:50094000-50114200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:50094600-50113800	Weak transcription	Pancreas	Pancrea
17	chr13:50094600-50120000	Weak transcription	Spleen	Spleen
18	chr13:50094600-50141600	Weak transcription	Right Ventricle	heart
19	chr13:50095000-50120400	Weak transcription	A549	lung
20	chr13:50097600-50114000	Weak transcription	Fetal Lung	lung
21	chr13:50097800-50135000	Weak transcription	Colonic Mucosa	Colon
22	chr13:50098000-50114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:50098200-50114000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:50101600-50114200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:50101600-50114600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:50101600-50142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:50101800-50114000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:50103200-50114400	Weak transcription	NH-A	brain
29	chr13:50103400-50114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:50103600-50114200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:50103800-50113800	Weak transcription	Placenta	Placenta
32	chr13:50104600-50114000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:50104600-50143800	Weak transcription	Hela-S3	cervix
34	chr13:50105000-50114400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr13:50105400-50114600	Weak transcription	K562	blood
36	chr13:50105400-50114800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:50106000-50114200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:50106600-50133200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:50107200-50114200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr13:50108400-50114000	Weak transcription	Liver	Liver
41	chr13:50108400-50114200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr13:50108400-50114200	Weak transcription	Left Ventricle	heart
43	chr13:50108400-50114200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr13:50108600-50158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:50108800-50114000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr13:50108800-50114000	Weak transcription	Lung	lung
47	chr13:50108800-50114000	Weak transcription	GM12878-XiMat	blood
48	chr13:50109200-50121600	Weak transcription	Brain Germinal Matrix	brain
49	chr13:50110400-50134400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:50110600-50114600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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