Variant report

Variant	rs6463014
Chromosome Location	chr7:4763914-4763915
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4750973..4755247-chr7:4763506..4767347,8	MCF-7	breast:
2	chr7:4721561..4725553-chr7:4763080..4767294,4	MCF-7	breast:
3	chr7:4720287..4723602-chr7:4763123..4767792,8	MCF-7	breast:
4	chr7:4762980..4766999-chr7:4782747..4785912,5	MCF-7	breast:
5	chr7:4728262..4730574-chr7:4763731..4766001,2	MCF-7	breast:
6	chr7:4756833..4759526-chr7:4763472..4765275,2	MCF-7	breast:
7	chr7:4762748..4765277-chr7:4778868..4780947,2	MCF-7	breast:
8	chr7:4693699..4695931-chr7:4763441..4765012,2	MCF-7	breast:
9	chr7:4763844..4765734-chr7:4769796..4771945,2	K562	blood:
10	chr7:4680335..4683615-chr7:4763536..4766738,3	MCF-7	breast:
11	chr7:4723706..4725532-chr7:4763308..4765301,2	MCF-7	breast:
12	chr7:4763802..4765803-chr7:4775724..4778098,2	MCF-7	breast:
13	chr7:4762343..4766286-chr7:4781806..4786084,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238781	Chromatin interaction
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10257680	0.94[ASN][1000 genomes]
rs10261971	0.91[ASN][1000 genomes]
rs10262715	0.86[ASN][1000 genomes]
rs10277273	0.82[ASN][1000 genomes]
rs12701913	0.82[ASN][1000 genomes]
rs13231213	0.82[ASN][1000 genomes]
rs13232425	0.91[ASN][1000 genomes]
rs3087749	0.81[ASN][1000 genomes]
rs35735269	0.86[ASN][1000 genomes]
rs4523152	0.80[ASN][1000 genomes]
rs4724033	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801721	0.82[ASN][1000 genomes]
rs6463013	0.81[ASN][1000 genomes]
rs6959744	0.82[ASN][1000 genomes]
rs6975499	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781115	0.82[ASN][1000 genomes]
rs7781456	0.98[ASN][1000 genomes]
rs7784748	0.83[ASN][1000 genomes]
rs7786525	0.98[ASN][1000 genomes]
rs7793919	0.85[ASN][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	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:4752800-4764200	Weak transcription	Colonic Mucosa	Colon
3	chr7:4752800-4764400	Weak transcription	Small Intestine	intestine
4	chr7:4753400-4774800	Weak transcription	K562	blood
5	chr7:4753800-4764000	Strong transcription	Fetal Intestine Small	intestine
6	chr7:4755200-4764000	Weak transcription	Brain Germinal Matrix	brain
7	chr7:4755200-4764200	Weak transcription	HSMM	muscle
8	chr7:4755400-4764200	Weak transcription	NHEK	skin
9	chr7:4755600-4764200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:4755600-4764200	Weak transcription	Stomach Mucosa	stomach
11	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:4757200-4778800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:4757400-4764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:4758000-4764200	Weak transcription	Aorta	Aorta
15	chr7:4758200-4764200	Weak transcription	Fetal Brain Female	brain
16	chr7:4758400-4764000	Weak transcription	Liver	Liver
17	chr7:4758400-4764200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:4758400-4764200	Weak transcription	Hela-S3	cervix
19	chr7:4758400-4764200	Weak transcription	HMEC	breast
20	chr7:4760000-4764400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:4760200-4764400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:4760800-4764000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:4761200-4764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:4761600-4764200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:4761600-4764200	Enhancers	Brain Angular Gyrus	brain
26	chr7:4761600-4764200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:4761600-4764200	Strong transcription	Fetal Intestine Large	intestine
28	chr7:4761800-4768000	Enhancers	Fetal Heart	heart
29	chr7:4762000-4764000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:4762000-4764200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:4762000-4764200	Enhancers	Brain Substantia Nigra	brain
32	chr7:4762000-4764200	Enhancers	Fetal Brain Male	brain
33	chr7:4762200-4764200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:4762200-4764200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:4762400-4764000	Weak transcription	NH-A	brain
36	chr7:4762400-4764200	Weak transcription	Esophagus	oesophagus
37	chr7:4762400-4764400	Genic enhancers	Fetal Stomach	stomach
38	chr7:4762400-4764400	Enhancers	Left Ventricle	heart
39	chr7:4762600-4764200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:4762600-4764200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:4762600-4764200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:4762800-4764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:4762800-4764000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:4762800-4764000	Weak transcription	Primary B cells from cord blood	blood
45	chr7:4762800-4764000	Weak transcription	Pancreas	Pancrea
46	chr7:4762800-4764200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:4762800-4764200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:4762800-4764200	Enhancers	Brain Hippocampus Middle	brain
49	chr7:4762800-4764200	Weak transcription	Gastric	stomach
50	chr7:4762800-4764200	Weak transcription	A549	lung

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