Variant report

Variant	rs7975847
Chromosome Location	chr12:48304375-48304376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48303456..48306045-chr12:48319476..48321750,3	MCF-7	breast:
2	chr12:48291415..48293817-chr12:48302480..48304953,2	K562	blood:
3	chr12:48299753..48302171-chr12:48303242..48305976,2	K562	blood:
4	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10875698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168302	0.84[AFR][1000 genomes]
rs11168303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168304	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168305	0.82[AFR][1000 genomes]
rs1775	1.00[JPT][hapmap]
rs34438994	1.00[EUR][1000 genomes]
rs4077869	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4411327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514490	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57419443	1.00[EUR][1000 genomes]
rs58915362	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61553170	1.00[EUR][1000 genomes]
rs7302038	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088121	0.81[ASN][1000 genomes]
rs7970168	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7979360	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48300000-48307200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:48301600-48304800	Enhancers	Fetal Intestine Small	intestine
3	chr12:48301800-48304800	Enhancers	Fetal Intestine Large	intestine
4	chr12:48302600-48306400	Enhancers	Placenta	Placenta
5	chr12:48302800-48305400	Weak transcription	Colonic Mucosa	Colon
6	chr12:48302800-48305400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:48303200-48304800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:48303200-48305000	Enhancers	NHDF-Ad	bronchial
9	chr12:48303400-48305000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:48303400-48305000	Enhancers	NHEK	skin
11	chr12:48303400-48305200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:48303400-48306000	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:48303600-48304600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:48303600-48304600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:48303600-48304600	Flanking Active TSS	HepG2	liver
16	chr12:48303600-48304800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:48303600-48304800	Enhancers	HMEC	breast
18	chr12:48303600-48305400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48303800-48304400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:48303800-48304400	Enhancers	Adipose Nuclei	Adipose
21	chr12:48303800-48304600	Enhancers	Small Intestine	intestine
22	chr12:48303800-48304600	Enhancers	Osteobl	bone
23	chr12:48303800-48304800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:48303800-48304800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:48304000-48304800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:48304000-48305200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:48304200-48304600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:48304200-48304600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr12:48304200-48304600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:48304200-48304800	Enhancers	HSMMtube	muscle
31	chr12:48304200-48305400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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