Variant report

Variant	rs7135229
Chromosome Location	chr12:1804559-1804560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1801036..1802914-chr12:1804421..1806179,3	MCF-7	breast:
2	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:
3	chr12:1770828..1772628-chr12:1803369..1805414,2	MCF-7	breast:
4	chr12:1800837..1805465-chr12:1806386..1808744,4	MCF-7	breast:
5	chr12:1770854..1772922-chr12:1803554..1806296,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266043	Chromatin interaction
ENSG00000271500	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2369974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2370054	1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4765838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4766411	1.00[EUR][1000 genomes]
rs4766420	1.00[EUR][1000 genomes]
rs56369812	1.00[EUR][1000 genomes]
rs6489321	1.00[EUR][1000 genomes]
rs6489325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133749	1.00[EUR][1000 genomes]
rs7297878	1.00[EUR][1000 genomes]
rs7304843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308757	1.00[EUR][1000 genomes]
rs7314133	1.00[EUR][1000 genomes]
rs74061311	1.00[EUR][1000 genomes]
rs74061331	1.00[EUR][1000 genomes]
rs74061332	1.00[EUR][1000 genomes]
rs758026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758169	1.00[EUR][1000 genomes]
rs7957003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964434	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1801000-1805600	Weak transcription	Pancreas	Pancrea
2	chr12:1801000-1815800	Weak transcription	Esophagus	oesophagus
3	chr12:1801000-1815800	Weak transcription	Gastric	stomach
4	chr12:1801200-1807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:1801400-1806400	Weak transcription	Fetal Lung	lung
6	chr12:1801400-1806600	Weak transcription	Aorta	Aorta
7	chr12:1801600-1804800	Weak transcription	Osteobl	bone
8	chr12:1801600-1805200	Weak transcription	Ovary	ovary
9	chr12:1801600-1805400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:1801600-1806000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:1801600-1806600	Weak transcription	Fetal Brain Male	brain
12	chr12:1801600-1807600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:1801600-1814200	Weak transcription	HSMM	muscle
14	chr12:1801600-1815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:1801600-1823400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:1801600-1827800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:1801800-1804800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:1801800-1804800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:1801800-1805000	Weak transcription	Fetal Kidney	kidney
20	chr12:1801800-1805200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:1801800-1805200	Weak transcription	Small Intestine	intestine
22	chr12:1801800-1805200	Weak transcription	NHDF-Ad	bronchial
23	chr12:1801800-1805400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:1801800-1805400	Weak transcription	Fetal Heart	heart
25	chr12:1801800-1805600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:1801800-1805800	Weak transcription	NHLF	lung
27	chr12:1801800-1806000	Weak transcription	Primary T cells from cord blood	blood
28	chr12:1801800-1807800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:1801800-1808200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:1801800-1811400	Weak transcription	NH-A	brain
31	chr12:1801800-1813400	Weak transcription	A549	lung
32	chr12:1801800-1823800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:1801800-1828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:1801800-1830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:1802200-1805400	Weak transcription	NHEK	skin
36	chr12:1802200-1805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:1802200-1805600	Weak transcription	Lung	lung
38	chr12:1802200-1805600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:1802200-1805800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:1802200-1805800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:1802200-1806000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:1802200-1806400	Weak transcription	Right Ventricle	heart
43	chr12:1802200-1806600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:1802200-1806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:1802200-1806600	Weak transcription	Fetal Brain Female	brain
46	chr12:1802200-1807800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:1802200-1815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:1802200-1815000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:1802200-1815000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:1802200-1815400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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