Variant report

Variant	rs7800664
Chromosome Location	chr7:83822116-83822117
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1015629	0.80[EUR][1000 genomes]
rs11979170	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986177	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7782557	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800995	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7805512	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929275	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9642174	0.89[ASN][1000 genomes]
rs9642175	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996033	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
2	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:83816400-83823600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:83816800-83823600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:83817800-83823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:83818000-83823200	Weak transcription	HUVEC	blood vessel
8	chr7:83818400-83823600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:83818600-83823200	Weak transcription	Adipose Nuclei	Adipose
10	chr7:83819400-83825800	Active TSS	Stomach Smooth Muscle	stomach
11	chr7:83819400-83826000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:83819600-83824800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:83819600-83826000	Active TSS	NHLF	lung
14	chr7:83819800-83823200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:83820000-83825800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:83820600-83823800	Active TSS	Brain Anterior Caudate	brain
17	chr7:83820600-83824600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:83820600-83825600	Active TSS	Fetal Intestine Large	intestine
19	chr7:83820600-83825800	Active TSS	Fetal Stomach	stomach
20	chr7:83820600-83826000	Active TSS	Colon Smooth Muscle	Colon
21	chr7:83820600-83826000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:83820600-83826000	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:83820800-83824600	Active TSS	Fetal Brain Female	brain
24	chr7:83820800-83825000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:83820800-83825600	Active TSS	Fetal Muscle Leg	muscle
26	chr7:83820800-83826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:83820800-83826000	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:83820800-83826200	Active TSS	NHDF-Ad	bronchial
29	chr7:83821000-83824600	Active TSS	NH-A	brain
30	chr7:83821000-83824800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:83821000-83825600	Active TSS	Brain Germinal Matrix	brain
32	chr7:83821000-83826000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:83821000-83826200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:83821200-83822400	Weak transcription	Osteobl	bone
35	chr7:83821200-83822600	Enhancers	Primary T cells from cord blood	blood
36	chr7:83821200-83824600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:83821200-83826000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:83821400-83822400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:83821400-83822600	Weak transcription	Brain Angular Gyrus	brain
40	chr7:83821400-83823200	Weak transcription	Hela-S3	cervix
41	chr7:83821400-83824600	Active TSS	HMEC	breast
42	chr7:83821400-83824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:83821400-83825800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:83821400-83825800	Active TSS	Fetal Kidney	kidney
45	chr7:83821600-83822400	Weak transcription	Fetal Intestine Small	intestine
46	chr7:83821600-83822800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:83821600-83823600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:83821600-83824400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:83821600-83825800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:83821800-83822400	Weak transcription	Fetal Heart	heart

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