Variant report

Variant	rs7306183
Chromosome Location	chr12:32801194-32801195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10771969	0.82[ASN][1000 genomes]
rs10771970	0.84[ASN][1000 genomes]
rs10771971	0.90[ASN][1000 genomes]
rs10771973	0.82[ASN][1000 genomes]
rs10844255	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10844256	0.80[ASN][1000 genomes]
rs10844257	0.80[ASN][1000 genomes]
rs10844258	0.81[ASN][1000 genomes]
rs10844262	0.83[ASN][1000 genomes]
rs10844264	0.83[ASN][1000 genomes]
rs10844265	0.83[ASN][1000 genomes]
rs10844266	0.83[ASN][1000 genomes]
rs10844268	0.82[ASN][1000 genomes]
rs10844270	0.90[ASN][1000 genomes]
rs10844271	0.83[ASN][1000 genomes]
rs10844272	0.88[ASN][1000 genomes]
rs11052123	0.90[ASN][1000 genomes]
rs11052124	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11052126	0.83[ASN][1000 genomes]
rs11052128	0.83[ASN][1000 genomes]
rs1133509	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12370222	0.83[ASN][1000 genomes]
rs1473652	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1875060	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1880557	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1909510	0.83[ASN][1000 genomes]
rs4438130	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4931648	0.90[ASN][1000 genomes]
rs56397387	0.83[ASN][1000 genomes]
rs61652801	0.82[ASN][1000 genomes]
rs67940080	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306370	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306976	0.81[ASN][1000 genomes]
rs7962152	0.83[ASN][1000 genomes]
rs7964947	0.82[ASN][1000 genomes]
rs7966020	0.90[ASN][1000 genomes]
rs7980205	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:32793600-32801200	Weak transcription	Pancreas	Pancrea
3	chr12:32793600-32801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:32793600-32801400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:32793600-32802600	Weak transcription	Right Ventricle	heart
6	chr12:32793600-32802800	Weak transcription	Lung	lung
7	chr12:32793600-32804400	Weak transcription	Stomach Mucosa	stomach
8	chr12:32793600-32810400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:32793600-32810800	Weak transcription	Ovary	ovary
10	chr12:32793600-32812800	Weak transcription	Aorta	Aorta
11	chr12:32793600-32813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:32793600-32819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:32793800-32801200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:32793800-32802800	Weak transcription	Placenta	Placenta
15	chr12:32793800-32803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:32793800-32803800	Weak transcription	HepG2	liver
17	chr12:32793800-32810400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:32794000-32803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:32794000-32803600	Weak transcription	NH-A	brain
20	chr12:32794800-32801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:32794800-32802400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:32794800-32803400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32794800-32812200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:32795400-32802000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:32795800-32802200	Weak transcription	HSMMtube	muscle
26	chr12:32796000-32801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:32796000-32801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:32796000-32803200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:32796000-32803400	Weak transcription	HMEC	breast
30	chr12:32796000-32810400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:32796200-32803000	Weak transcription	HUVEC	blood vessel
32	chr12:32797000-32812200	Weak transcription	Adipose Nuclei	Adipose
33	chr12:32797800-32802600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:32798000-32801200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:32798000-32801600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:32798000-32806400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:32798400-32802800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:32799400-32803400	Weak transcription	NHEK	skin
39	chr12:32799600-32801200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:32799600-32801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:32799600-32801200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:32799600-32801200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:32799600-32801200	Weak transcription	Liver	Liver
44	chr12:32799600-32801400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:32799600-32801800	Weak transcription	Fetal Stomach	stomach
46	chr12:32799600-32803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:32799600-32810800	Weak transcription	Brain Substantia Nigra	brain
48	chr12:32799600-32812000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:32799600-32812200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:32799600-32812800	Weak transcription	Fetal Muscle Trunk	muscle

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