Variant report

Variant	rs7047788
Chromosome Location	chr9:71989166-71989167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10115490	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10118562	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10746595	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10746596	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10780321	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780326	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780336	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10867426	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10867436	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11138402	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11138412	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1334311	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3829094	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3892193	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4255205	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4458929	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4492445	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6559495	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7870082	0.90[AMR][1000 genomes];0.88[EUR][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	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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
6	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71962200-71994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:71963200-71991800	Weak transcription	Pancreas	Pancrea
3	chr9:71972600-71991800	Weak transcription	Right Atrium	heart
4	chr9:71972800-71991400	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:71977400-71992400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:71978800-71989200	Weak transcription	Right Ventricle	heart
7	chr9:71978800-71991600	Weak transcription	Left Ventricle	heart
8	chr9:71979000-72001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:71983400-72001800	Weak transcription	Brain Anterior Caudate	brain
10	chr9:71985400-71994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:71985400-72006600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:71985600-71989600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:71985600-71991000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:71985600-71991200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:71985600-71991400	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:71985600-71992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:71985800-71990200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:71986000-71990800	Weak transcription	HSMMtube	muscle
19	chr9:71986200-71990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:71986600-71990000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:71986600-71991000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:71986600-71991000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:71986600-71991000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:71986600-71991200	Weak transcription	Stomach Mucosa	stomach
25	chr9:71986600-71991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:71986600-71991800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:71986600-71991800	Weak transcription	Gastric	stomach
28	chr9:71986600-71992200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr9:71986600-72002600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:71986800-71989800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:71986800-71990000	Weak transcription	HMEC	breast
32	chr9:71986800-71990600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:71986800-71991000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:71986800-71991000	Weak transcription	Osteobl	bone
35	chr9:71986800-71991200	Weak transcription	NH-A	brain
36	chr9:71986800-71994200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:71987000-71989200	Weak transcription	Ovary	ovary
38	chr9:71987000-71991000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr9:71987000-71991000	Weak transcription	HUVEC	blood vessel
40	chr9:71987000-71991400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:71987000-71992200	Weak transcription	Brain Angular Gyrus	brain
42	chr9:71987600-71991800	Weak transcription	Psoas Muscle	Psoas
43	chr9:71988600-71989800	Enhancers	Fetal Heart	heart
44	chr9:71988800-71989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr9:71988800-71998600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:71989000-72002800	Weak transcription	Brain Substantia Nigra	brain

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