Variant report

Variant	rs730635
Chromosome Location	chr14:69441360-69441361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69377936..69380482-chr14:69440340..69442074,2	MCF-7	breast:
2	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
3	chr14:69394801..69397631-chr14:69439389..69441404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000258531	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131417	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11846999	0.88[EUR][1000 genomes]
rs11847083	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11850741	0.86[EUR][1000 genomes]
rs17758097	0.91[EUR][1000 genomes]
rs17835991	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2284906	0.88[EUR][1000 genomes]
rs58291960	0.88[EUR][1000 genomes]
rs67356344	0.88[EUR][1000 genomes]
rs7144924	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs72718210	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72718212	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72718216	0.95[EUR][1000 genomes]
rs72718217	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
2	chr14:69420600-69441600	Genic enhancers	NH-A	brain
3	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:69428400-69442200	Genic enhancers	Fetal Stomach	stomach
5	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:69429800-69441400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:69429800-69442400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:69430000-69441600	Genic enhancers	HSMM	muscle
10	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
11	chr14:69432000-69442400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:69432400-69441400	Genic enhancers	HepG2	liver
13	chr14:69432600-69442200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:69432600-69443000	Weak transcription	Brain Substantia Nigra	brain
15	chr14:69433200-69442000	Genic enhancers	Muscle Satellite Cultured Cells	--
16	chr14:69434200-69441600	Weak transcription	Ovary	ovary
17	chr14:69434400-69442400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:69435600-69441600	Genic enhancers	HMEC	breast
19	chr14:69436200-69442600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:69436400-69441800	Weak transcription	Brain Angular Gyrus	brain
21	chr14:69436600-69442000	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:69437000-69443000	Weak transcription	Fetal Brain Male	brain
23	chr14:69437200-69441400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:69437200-69442000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:69437400-69441400	Weak transcription	Small Intestine	intestine
26	chr14:69437400-69441800	Genic enhancers	A549	lung
27	chr14:69437400-69441800	Genic enhancers	Osteobl	bone
28	chr14:69437400-69442200	Genic enhancers	HUVEC	blood vessel
29	chr14:69437600-69441400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:69437600-69441600	Strong transcription	Fetal Muscle Leg	muscle
31	chr14:69437600-69441800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:69437800-69441600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:69437800-69443600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:69438000-69441400	Strong transcription	HSMMtube	muscle
35	chr14:69438000-69441600	Genic enhancers	Liver	Liver
36	chr14:69438200-69442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:69438200-69442600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:69438200-69442600	Weak transcription	Fetal Kidney	kidney
39	chr14:69438200-69443200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:69438400-69441600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:69438400-69442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:69438400-69444400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:69438600-69442000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:69438600-69443000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:69438800-69441400	Weak transcription	Fetal Heart	heart
46	chr14:69438800-69441800	Strong transcription	Dnd41	blood
47	chr14:69438800-69442800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr14:69438800-69443000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:69438800-69443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:69438800-69444000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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