Variant report

Variant	rs74080675
Chromosome Location	chr12:30354642-30354643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30351001..30353432-chr12:30354481..30356033,2	MCF-7	breast:
2	chr12:30354231..30355981-chr12:30359354..30362210,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59507162	1.00[EUR][1000 genomes]
rs7134468	1.00[EUR][1000 genomes]
rs74080585	1.00[EUR][1000 genomes]
rs74080597	1.00[EUR][1000 genomes]
rs74080599	1.00[EUR][1000 genomes]
rs74080600	1.00[EUR][1000 genomes]
rs74080601	1.00[EUR][1000 genomes]
rs74080602	1.00[EUR][1000 genomes]
rs74080669	1.00[EUR][1000 genomes]
rs74082603	1.00[EUR][1000 genomes]
rs74082605	1.00[EUR][1000 genomes]
rs74082610	1.00[EUR][1000 genomes]
rs74082613	1.00[EUR][1000 genomes]
rs74082615	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1050921	chr12:30334940-30409475	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30353400-30354800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:30353600-30354800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr12:30353600-30354800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:30353600-30354800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:30353800-30354800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:30353800-30354800	Active TSS	Right Ventricle	heart
7	chr12:30353800-30355000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr12:30354000-30354800	Bivalent Enhancer	Fetal Brain Male	brain
9	chr12:30354000-30354800	Bivalent Enhancer	Left Ventricle	heart
10	chr12:30354400-30354800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr12:30354400-30354800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr12:30354400-30354800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
13	chr12:30354400-30355600	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr12:30354600-30354800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr12:30354600-30354800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:30354600-30354800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:30354600-30354800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:30354600-30354800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:30354600-30354800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:30354600-30354800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:30354600-30354800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr12:30354600-30354800	Flanking Active TSS	Gastric	stomach
23	chr12:30354600-30354800	Enhancers	Pancreas	Pancrea
24	chr12:30354600-30355000	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr12:30354600-30355600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:30354600-30355800	Bivalent Enhancer	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links