Variant report

Variant	rs7630415
Chromosome Location	chr3:47028982-47028983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47028290..47030861-chr3:47204654..47207061,2	K562	blood:
2	chr3:46943427..46945149-chr3:47026537..47029447,2	K562	blood:
3	chr3:46967003..46969094-chr3:47027907..47030796,2	K562	blood:
4	chr3:46949254..46951552-chr3:47027591..47030154,3	K562	blood:
5	chr3:46974856..46983636-chr3:47025231..47032249,9	K562	blood:
6	chr3:46987136..46991583-chr3:47027983..47031367,6	K562	blood:
7	chr3:46953705..46956072-chr3:47026187..47029077,2	K562	blood:
8	chr3:47028266..47031256-chr3:47034300..47036067,3	MCF-7	breast:
9	chr3:46949955..46951552-chr3:47027591..47029507,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227398	Chromatin interaction
ENSG00000160801	Chromatin interaction
ENSG00000181555	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1473382	1.00[ASN][1000 genomes]
rs6775797	0.85[AMR][1000 genomes]
rs731626	1.00[AMR][1000 genomes]
rs9812407	0.85[AMR][1000 genomes]
rs9826669	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9862711	0.85[AMR][1000 genomes]
rs9878813	0.85[AMR][1000 genomes]
rs9883152	0.85[AMR][1000 genomes]
rs9990284	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	esv1800172	chr3:47013346-47049306	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv590209	chr3:47018214-47050784	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47021800-47036000	Weak transcription	Ovary	ovary
2	chr3:47022000-47030200	Weak transcription	Aorta	Aorta
3	chr3:47022200-47030200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:47022400-47029600	Weak transcription	Liver	Liver
5	chr3:47022400-47039800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:47022400-47041600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:47022400-47041800	Weak transcription	Brain Germinal Matrix	brain
8	chr3:47022400-47042000	Weak transcription	Brain Substantia Nigra	brain
9	chr3:47022600-47049000	Weak transcription	Hela-S3	cervix
10	chr3:47022600-47050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:47023200-47042000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:47023600-47035600	Weak transcription	Brain Anterior Caudate	brain
13	chr3:47023800-47029000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:47023800-47029600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:47024200-47029400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:47024200-47030400	Weak transcription	Fetal Brain Female	brain
17	chr3:47024400-47030000	Enhancers	Stomach Mucosa	stomach
18	chr3:47024400-47039600	Weak transcription	HepG2	liver
19	chr3:47024600-47031800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:47025800-47031800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:47026000-47029000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:47026000-47029400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr3:47026000-47029800	Genic enhancers	Fetal Intestine Small	intestine
24	chr3:47026200-47029800	Enhancers	Lung	lung
25	chr3:47026200-47030000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr3:47026200-47030200	Enhancers	Gastric	stomach
27	chr3:47026600-47029000	Enhancers	Colonic Mucosa	Colon
28	chr3:47026600-47029000	Enhancers	Thymus	Thymus
29	chr3:47026600-47029600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:47026600-47029800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:47026600-47030000	Enhancers	Right Ventricle	heart
32	chr3:47026600-47033200	Enhancers	Placenta	Placenta
33	chr3:47026800-47029000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:47026800-47029000	Enhancers	Right Atrium	heart
35	chr3:47026800-47029000	Enhancers	NHEK	skin
36	chr3:47026800-47029400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr3:47026800-47031000	Enhancers	Left Ventricle	heart
38	chr3:47027000-47030200	Enhancers	Spleen	Spleen
39	chr3:47027000-47032000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr3:47027200-47029200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr3:47027200-47029600	Enhancers	HMEC	breast
42	chr3:47027200-47029800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:47027400-47029000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:47027400-47029400	Enhancers	Fetal Intestine Large	intestine
45	chr3:47027600-47029400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:47027600-47030200	Enhancers	A549	lung
47	chr3:47027800-47029200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:47028000-47029000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr3:47028000-47029400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr3:47028000-47029400	Enhancers	Adipose Nuclei	Adipose

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