Variant report

Variant	rs12451996
Chromosome Location	chr17:63082236-63082237
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63051800..63054253-chr17:63080955..63083663,2	MCF-7	breast:
2	chr17:63074484..63077151-chr17:63081040..63083248,2	MCF-7	breast:
3	chr17:63081890..63083799-chr17:63086574..63090011,3	MCF-7	breast:
4	chr17:63078642..63080403-chr17:63080916..63084692,3	MCF-7	breast:
5	chr17:63076479..63078721-chr17:63081517..63084623,3	K562	blood:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12453179	0.84[ASN][1000 genomes]
rs12600474	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17687191	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28698781	0.83[ASN][1000 genomes]
rs4791237	0.84[ASN][1000 genomes]
rs4791238	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61250994	0.83[ASN][1000 genomes]
rs62062504	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6504275	0.82[ASN][1000 genomes]
rs8076603	0.80[ASN][1000 genomes]
rs894582	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9892355	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9892738	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63079400-63083800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:63081600-63082400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:63081600-63082400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:63081600-63082400	Enhancers	Fetal Lung	lung
5	chr17:63081600-63082400	Bivalent Enhancer	Fetal Stomach	stomach
6	chr17:63081600-63082400	Enhancers	Left Ventricle	heart
7	chr17:63081600-63082400	Enhancers	Lung	lung
8	chr17:63081600-63082400	Enhancers	Pancreas	Pancrea
9	chr17:63081600-63082400	Enhancers	Spleen	Spleen
10	chr17:63081600-63082400	Enhancers	HepG2	liver
11	chr17:63081600-63082600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr17:63081600-63082800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr17:63081600-63082800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr17:63081600-63083200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:63081600-63084800	Enhancers	Fetal Intestine Small	intestine
16	chr17:63081600-63085200	Enhancers	Duodenum Mucosa	Duodenum
17	chr17:63081600-63085200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:63081800-63082400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:63081800-63082800	Enhancers	Small Intestine	intestine
20	chr17:63082000-63082400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr17:63082000-63082400	Enhancers	Right Ventricle	heart
22	chr17:63082000-63082400	Enhancers	HSMMtube	muscle
23	chr17:63082000-63083400	Enhancers	Stomach Mucosa	stomach
24	chr17:63082000-63084000	Weak transcription	A549	lung
25	chr17:63082000-63084600	Enhancers	Fetal Intestine Large	intestine
26	chr17:63082000-63084800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr17:63082200-63082400	Enhancers	Placenta	Placenta
28	chr17:63082200-63082400	Enhancers	Right Atrium	heart
29	chr17:63082200-63083600	Weak transcription	Ovary	ovary
30	chr17:63082200-63083800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:63082200-63088400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr17:63082200-63096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links