Variant report

Variant	rs12503632
Chromosome Location	chr4:119272203-119272204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119199765..119204001-chr4:119271592..119273818,4	K562	blood:
2	chr4:119202395..119204664-chr4:119270444..119272210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs705837	0.88[ASN][1000 genomes]
rs788646	0.85[ASN][1000 genomes]
rs788649	0.88[ASN][1000 genomes]
rs788670	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv461631	chr4:119261939-119308603	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv595331	chr4:119261939-119308603	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12503632	SNHG8	cis	Skin Sun Exposed Lower leg	GTEx
rs12503632	SNHG8	cis	Muscle Skeletal	GTEx
rs12503632	SNHG8	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119267400-119273000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:119267400-119273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:119268000-119272400	Weak transcription	HMEC	breast
4	chr4:119268000-119273000	Weak transcription	Gastric	stomach
5	chr4:119268200-119273000	Weak transcription	Pancreas	Pancrea
6	chr4:119269200-119272600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:119270600-119272600	Weak transcription	Stomach Mucosa	stomach
8	chr4:119270800-119272600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:119270800-119272800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:119270800-119272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:119271400-119272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:119271600-119272800	Enhancers	NHEK	skin
13	chr4:119271600-119273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:119271600-119273200	Bivalent/Poised TSS	Fetal Brain Male	brain
15	chr4:119271600-119274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:119271600-119274400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:119271600-119275000	Active TSS	NHLF	lung
18	chr4:119271800-119274200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:119271800-119274200	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr4:119271800-119274600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:119271800-119274600	Active TSS	Osteobl	bone
22	chr4:119272200-119272400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:119272200-119272400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:119272200-119272400	Active TSS	Fetal Brain Female	brain
25	chr4:119272200-119273400	Bivalent Enhancer	HUVEC	blood vessel
26	chr4:119272200-119274600	Active TSS	NHDF-Ad	bronchial

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