Variant report

Variant	rs12512108
Chromosome Location	chr4:7959980-7959981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7959441..7961778-chr4:7964289..7966996,2	K562	blood:
2	chr4:7958027..7960096-chr4:7963574..7966311,3	MCF-7	breast:
3	chr4:7939022..7943379-chr4:7955959..7960860,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction
ENSG00000228919	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1320066	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57932625	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr4:7951400-7962200	Weak transcription	Small Intestine	intestine
2	chr4:7957000-7962000	Enhancers	Hela-S3	cervix
3	chr4:7957200-7961200	Enhancers	Fetal Intestine Large	intestine
4	chr4:7957800-7960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:7958000-7962400	Enhancers	A549	lung
6	chr4:7958200-7961200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:7958200-7961800	Weak transcription	Stomach Mucosa	stomach
8	chr4:7958400-7961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:7958400-7962000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:7958400-7962000	Weak transcription	Right Ventricle	heart
11	chr4:7958600-7960600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:7958600-7960600	Weak transcription	Spleen	Spleen
13	chr4:7958600-7961000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:7958600-7961000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:7958600-7961000	Weak transcription	Osteobl	bone
16	chr4:7958600-7961600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:7958600-7961600	Weak transcription	Pancreas	Pancrea
18	chr4:7958600-7961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:7958600-7961800	Weak transcription	Left Ventricle	heart
20	chr4:7958600-7961800	Weak transcription	Lung	lung
21	chr4:7958600-7961800	Weak transcription	HMEC	breast
22	chr4:7958600-7961800	Weak transcription	NH-A	brain
23	chr4:7958600-7961800	Weak transcription	NHDF-Ad	bronchial
24	chr4:7958600-7961800	Weak transcription	NHEK	skin
25	chr4:7958600-7961800	Weak transcription	NHLF	lung
26	chr4:7958600-7962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:7958600-7962000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:7958600-7962000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:7958600-7962000	Weak transcription	Brain Anterior Caudate	brain
30	chr4:7958600-7962000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:7958600-7962400	Weak transcription	Brain Substantia Nigra	brain
32	chr4:7958600-7964600	Weak transcription	Gastric	stomach
33	chr4:7958800-7960000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:7958800-7960800	Enhancers	HUVEC	blood vessel
35	chr4:7958800-7961800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:7958800-7961800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:7958800-7961800	Weak transcription	Fetal Heart	heart
38	chr4:7958800-7961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:7958800-7962000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:7958800-7962000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:7958800-7962600	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:7959000-7960000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:7959000-7960000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:7959000-7960600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:7959000-7960600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:7959000-7962000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:7959000-7962400	Weak transcription	Fetal Kidney	kidney
48	chr4:7959000-7963000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:7959200-7962000	Weak transcription	Fetal Lung	lung
50	chr4:7959400-7960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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