Variant report

Variant	rs17098451
Chromosome Location	chr12:63260871-63260872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63251270..63253184-chr12:63258915..63261643,2	MCF-7	breast:
2	chr12:63255458..63258217-chr12:63260848..63263139,2	MCF-7	breast:
3	chr12:63257305..63259336-chr12:63259485..63261884,2	K562	blood:
4	chr12:63258946..63261199-chr12:63326953..63329454,2	MCF-7	breast:
5	chr12:63248497..63250769-chr12:63260059..63262158,2	MCF-7	breast:
6	chr12:63260158..63264907-chr12:63265796..63270388,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10506453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10506454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174706	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174708	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570230	0.98[EUR][1000 genomes]
rs571104	1.00[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs7312508	0.93[AMR][1000 genomes];0.90[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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63253000-63262000	Enhancers	Osteobl	bone
2	chr12:63254400-63262000	Enhancers	HSMM	muscle
3	chr12:63255000-63262400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr12:63255600-63261200	Enhancers	Brain Hippocampus Middle	brain
5	chr12:63256000-63262000	Weak transcription	Ovary	ovary
6	chr12:63256400-63262200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:63257800-63262600	Enhancers	Brain Substantia Nigra	brain
8	chr12:63258000-63261200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:63258400-63262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:63258600-63261400	Enhancers	HSMMtube	muscle
12	chr12:63258600-63262200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:63258800-63261000	Enhancers	Right Atrium	heart
14	chr12:63258800-63262000	Enhancers	NHLF	lung
15	chr12:63258800-63264400	Enhancers	HepG2	liver
16	chr12:63259000-63261000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:63259000-63261000	Enhancers	Left Ventricle	heart
18	chr12:63259000-63261200	Enhancers	NHDF-Ad	bronchial
19	chr12:63259000-63262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:63259600-63261000	Enhancers	Small Intestine	intestine
21	chr12:63259600-63261200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:63259600-63261200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:63259600-63261200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:63259600-63261400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:63259800-63261000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:63259800-63261200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:63259800-63261200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:63259800-63261200	Enhancers	HMEC	breast
29	chr12:63259800-63261400	Flanking Active TSS	A549	lung
30	chr12:63259800-63261800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:63259800-63261800	Enhancers	HUVEC	blood vessel
32	chr12:63259800-63262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:63259800-63263400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr12:63260000-63261200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:63260000-63261400	Enhancers	Fetal Lung	lung
36	chr12:63260000-63262000	Enhancers	Adipose Nuclei	Adipose
37	chr12:63260000-63262200	Enhancers	K562	blood
38	chr12:63260200-63261000	Enhancers	Stomach Mucosa	stomach
39	chr12:63260200-63261000	Enhancers	NHEK	skin
40	chr12:63260200-63261400	Enhancers	Fetal Intestine Small	intestine
41	chr12:63260200-63261800	Enhancers	Fetal Intestine Large	intestine
42	chr12:63260200-63262200	Enhancers	Fetal Heart	heart
43	chr12:63260200-63275400	Weak transcription	Pancreas	Pancrea
44	chr12:63260400-63261000	Enhancers	Psoas Muscle	Psoas
45	chr12:63260400-63261000	Flanking Active TSS	Hela-S3	cervix
46	chr12:63260400-63261200	Flanking Active TSS	NH-A	brain
47	chr12:63260400-63261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:63260400-63262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:63260400-63262000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:63260600-63261000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links