Variant report

Variant	rs73118814
Chromosome Location	chr7:50755793-50755794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10486758	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12530497	1.00[AFR][1000 genomes]
rs12538863	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152083	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17449259	1.00[AFR][1000 genomes]
rs17449280	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546879	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547986	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17548938	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237482	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286155	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs41430449	1.00[AFR][1000 genomes]
rs4245558	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947463	1.00[AFR][1000 genomes]
rs4947816	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947832	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4947834	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4947844	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4947854	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4947864	1.00[AFR][1000 genomes]
rs4947887	1.00[AFR][1000 genomes]
rs56037477	0.80[ASN][1000 genomes]
rs56118724	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56200772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219566	1.00[AFR][1000 genomes]
rs58092690	1.00[AFR][1000 genomes]
rs58198279	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60210111	1.00[AFR][1000 genomes]
rs60767324	0.87[EUR][1000 genomes]
rs61250449	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61618565	1.00[AFR][1000 genomes]
rs73113830	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73113855	1.00[AFR][1000 genomes]
rs73113860	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73113863	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73116822	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118841	0.90[ASN][1000 genomes]
rs73122773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122790	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122793	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122798	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124705	0.90[ASN][1000 genomes]
rs73124711	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124720	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757771	0.86[ASN][1000 genomes]
rs757998	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv275051	chr7:50755514-50756320	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
4	chr7:50742200-50765200	Weak transcription	NHLF	lung
5	chr7:50742600-50757000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
7	chr7:50742600-50763000	Weak transcription	HSMM	muscle
8	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:50742800-50756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:50742800-50757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:50743000-50756400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:50745600-50761200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:50745800-50769600	Weak transcription	Gastric	stomach
14	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
15	chr7:50746400-50758400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:50748200-50758200	Weak transcription	Brain Anterior Caudate	brain
17	chr7:50750000-50756600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:50750200-50758600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:50752200-50756200	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:50752200-50756600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:50752600-50759800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:50752800-50756200	Enhancers	Fetal Muscle Leg	muscle
24	chr7:50752800-50756800	Enhancers	Left Ventricle	heart
25	chr7:50752800-50765200	Weak transcription	Fetal Intestine Large	intestine
26	chr7:50753000-50757600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:50753200-50756400	Enhancers	Colon Smooth Muscle	Colon
28	chr7:50753200-50757000	Enhancers	Psoas Muscle	Psoas
29	chr7:50753400-50756800	Enhancers	Liver	Liver
30	chr7:50753600-50756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:50753600-50760600	Weak transcription	Fetal Lung	lung
32	chr7:50753800-50758400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:50753800-50765000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:50753800-50770000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:50754000-50758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:50754200-50757800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:50754200-50761400	Weak transcription	Placenta	Placenta
38	chr7:50754600-50755800	Strong transcription	A549	lung
39	chr7:50754600-50756000	Enhancers	Fetal Brain Female	brain
40	chr7:50754600-50756400	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr7:50754600-50757000	Genic enhancers	Pancreas	Pancrea
42	chr7:50754600-50757400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:50754600-50757400	Strong transcription	Fetal Stomach	stomach
44	chr7:50754600-50757800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:50754800-50757600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:50754800-50757600	Enhancers	Fetal Brain Male	brain
47	chr7:50755000-50755800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:50755000-50755800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:50755000-50755800	Genic enhancers	Right Ventricle	heart
50	chr7:50755000-50755800	Genic enhancers	Spleen	Spleen

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