Variant report

Variant	rs1808948
Chromosome Location	chr7:4052255-4052256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10480120	0.81[ASN][1000 genomes]
rs60163833	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61752593	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6942556	0.87[EUR][1000 genomes]
rs6968367	0.87[EUR][1000 genomes]
rs894776	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs894777	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4022000-4057800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:4031200-4058400	Weak transcription	Gastric	stomach
3	chr7:4038000-4054800	Weak transcription	Spleen	Spleen
4	chr7:4042000-4054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:4044600-4052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:4046200-4055600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:4046600-4055800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:4046800-4053200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:4046800-4056200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:4047000-4052400	Weak transcription	Liver	Liver
11	chr7:4047000-4056800	Weak transcription	Fetal Intestine Large	intestine
12	chr7:4047000-4058400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:4047200-4053400	Weak transcription	Fetal Stomach	stomach
14	chr7:4047200-4055000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:4047200-4057600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:4047600-4058200	Weak transcription	Esophagus	oesophagus
17	chr7:4047800-4053600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:4048800-4053800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:4049000-4058400	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:4049400-4052400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:4050000-4055000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:4050000-4058600	Weak transcription	Right Ventricle	heart
23	chr7:4050000-4059200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:4050800-4054000	Weak transcription	Fetal Lung	lung
25	chr7:4051200-4053000	Weak transcription	HUVEC	blood vessel
26	chr7:4051200-4054600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:4051200-4065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:4051400-4053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:4051400-4055400	Weak transcription	Fetal Intestine Small	intestine
30	chr7:4051600-4053400	Weak transcription	Fetal Brain Male	brain
31	chr7:4051600-4058000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:4051800-4052800	Weak transcription	Brain Germinal Matrix	brain
33	chr7:4051800-4053000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:4052000-4053000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:4052000-4053200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:4052000-4053200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:4052000-4058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:4052000-4061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:4052200-4053400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:4052200-4053600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:4052200-4054200	Weak transcription	Aorta	Aorta
42	chr7:4052200-4055000	Weak transcription	Pancreas	Pancrea

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