Variant report

Variant	rs4734058
Chromosome Location	chr8:103524176-103524177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103422775..103425553-chr8:103523894..103525443,2	MCF-7	breast:
2	chr8:103522488..103525598-chr8:103527242..103531492,4	MCF-7	breast:
3	chr8:103523075..103527068-chr8:103533179..103535230,3	MCF-7	breast:
4	chr8:103423814..103426370-chr8:103522488..103525355,2	MCF-7	breast:
5	chr8:103523909..103525501-chr8:103526582..103528205,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12056666	0.85[ASN][1000 genomes]
rs16869480	0.93[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs16869485	0.93[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2217750	0.90[ASN][1000 genomes]
rs4317537	0.93[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs4734629	0.85[ASN][1000 genomes]
rs4734631	0.80[ASN][1000 genomes]
rs62524788	0.80[ASN][1000 genomes]
rs62524791	0.82[ASN][1000 genomes]
rs62524815	0.91[ASN][1000 genomes]
rs62524816	0.91[ASN][1000 genomes]
rs62524817	0.90[ASN][1000 genomes]
rs62524820	0.91[ASN][1000 genomes]
rs62524823	0.89[ASN][1000 genomes]
rs62524824	0.89[ASN][1000 genomes]
rs62524825	0.89[ASN][1000 genomes]
rs62524826	0.89[ASN][1000 genomes]
rs6468833	0.80[ASN][1000 genomes]
rs6983384	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs6983758	0.93[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs9642978	0.93[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
4	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4734058	KLF10	cis	cerebellum	SCAN
rs4734058	ANKRD46	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103502800-103529800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103518200-103529600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103518200-103529600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:103518400-103529600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:103518400-103529600	Weak transcription	Right Atrium	heart
6	chr8:103522600-103524800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:103523600-103524200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:103523600-103524600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:103523800-103524200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:103523800-103524200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103523800-103524200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:103523800-103524200	Enhancers	Fetal Brain Female	brain
13	chr8:103523800-103524200	Enhancers	Gastric	stomach
14	chr8:103523800-103524200	Enhancers	Pancreas	Pancrea
15	chr8:103523800-103524200	Flanking Active TSS	HepG2	liver
16	chr8:103523800-103524200	Enhancers	HMEC	breast
17	chr8:103523800-103524400	Enhancers	Adipose Nuclei	Adipose
18	chr8:103523800-103524400	Enhancers	Hela-S3	cervix
19	chr8:103523800-103524400	Enhancers	NHEK	skin
20	chr8:103523800-103524600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:103523800-103524600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:103523800-103524600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:103523800-103524600	Enhancers	Colon Smooth Muscle	Colon
24	chr8:103523800-103524600	Enhancers	Esophagus	oesophagus
25	chr8:103523800-103524600	Enhancers	Fetal Intestine Large	intestine
26	chr8:103523800-103524600	Enhancers	Fetal Intestine Small	intestine
27	chr8:103523800-103524600	Enhancers	Fetal Kidney	kidney
28	chr8:103523800-103524800	Enhancers	A549	lung
29	chr8:103524000-103524200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:103524000-103524400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:103524000-103524400	Enhancers	Fetal Brain Male	brain
32	chr8:103524000-103524600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:103524000-103524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:103524000-103524600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:103524000-103524600	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:103524000-103524600	Enhancers	Stomach Smooth Muscle	stomach

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