Variant report

Variant	rs9851176
Chromosome Location	chr3:42790738-42790739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42789944..42792627-chr3:42845601..42848096,2	K562	blood:
2	chr3:42787545..42791354-chr3:42791558..42794985,4	K562	blood:
3	chr3:42694253..42696988-chr3:42790179..42793098,2	K562	blood:
4	chr3:42781201..42784093-chr3:42790186..42792951,2	K562	blood:

Variant related genes	Relation type
ENSG00000230084	Chromatin interaction
ENSG00000181061	Chromatin interaction
ENSG00000114853	Chromatin interaction
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13320629	1.00[ASN][1000 genomes]
rs13320636	1.00[AMR][1000 genomes]
rs17074768	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17074770	1.00[ASN][1000 genomes]
rs2290974	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28508577	1.00[AMR][1000 genomes]
rs28858178	1.00[AMR][1000 genomes]
rs57865869	1.00[AMR][1000 genomes]
rs6808227	1.00[ASN][1000 genomes]
rs9811777	0.83[YRI][hapmap]
rs9814373	1.00[AMR][1000 genomes]
rs9825860	1.00[ASN][1000 genomes]
rs9877691	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9879906	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1846968	chr3:42787469-42832979	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42778000-42811000	Weak transcription	Spleen	Spleen
2	chr3:42781800-42802800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:42785200-42792000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:42785200-42792000	Enhancers	Brain Substantia Nigra	brain
5	chr3:42785400-42792000	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:42785600-42791600	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:42785600-42791800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:42785800-42791800	Enhancers	Fetal Muscle Leg	muscle
9	chr3:42787400-42790800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:42787400-42791800	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:42787800-42790800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:42787800-42791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:42788000-42792000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:42788200-42790800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr3:42788200-42791000	Weak transcription	Fetal Heart	heart
16	chr3:42788200-42791800	Enhancers	Colon Smooth Muscle	Colon
17	chr3:42788200-42794400	Weak transcription	Stomach Mucosa	stomach
18	chr3:42788400-42797200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:42788600-42790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:42788600-42790800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:42788600-42791000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:42788600-42791000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:42788600-42793400	Weak transcription	Fetal Brain Male	brain
24	chr3:42788600-42796000	Weak transcription	Adipose Nuclei	Adipose
25	chr3:42788600-42804200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:42788800-42790800	Weak transcription	Colonic Mucosa	Colon
27	chr3:42788800-42790800	Weak transcription	Right Ventricle	heart
28	chr3:42788800-42791200	Weak transcription	Right Atrium	heart
29	chr3:42788800-42793000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:42788800-42794400	Weak transcription	Gastric	stomach
31	chr3:42788800-42799800	Weak transcription	Left Ventricle	heart
32	chr3:42789000-42792600	Weak transcription	Fetal Lung	lung
33	chr3:42789000-42795200	Weak transcription	Aorta	Aorta
34	chr3:42789000-42795600	Weak transcription	Fetal Brain Female	brain
35	chr3:42789200-42790800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:42789200-42791600	Enhancers	Primary T cells from cord blood	blood
37	chr3:42789400-42791200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:42789400-42791400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:42789400-42793000	Weak transcription	Lung	lung
40	chr3:42789600-42791400	Enhancers	HepG2	liver
41	chr3:42789600-42792000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:42789800-42807600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:42790000-42790800	Weak transcription	Esophagus	oesophagus
44	chr3:42790000-42790800	Weak transcription	Pancreas	Pancrea
45	chr3:42790000-42791200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:42790000-42791200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:42790000-42792000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:42790200-42791200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr3:42790200-42791200	Weak transcription	Brain Anterior Caudate	brain
50	chr3:42790200-42791200	Weak transcription	Brain Hippocampus Middle	brain

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