Variant report

Variant	rs11988545
Chromosome Location	chr8:105510966-105510967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:105494376-105512670	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105507294..105509326-chr8:105509952..105511501,2	K562	blood:

Variant related genes	Relation type
LRP12	TF binding region
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10429349	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985102	1.00[AMR][1000 genomes]
rs11985107	1.00[AMR][1000 genomes]
rs11985915	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988673	1.00[AMR][1000 genomes]
rs11988817	1.00[AMR][1000 genomes]
rs11990136	0.85[AFR][1000 genomes]
rs11992187	1.00[AMR][1000 genomes]
rs11992473	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993150	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995366	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996875	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997098	1.00[AMR][1000 genomes]
rs11998493	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114034	1.00[AMR][1000 genomes]
rs12114649	1.00[AMR][1000 genomes]
rs12114911	1.00[YRI][hapmap]
rs1438354	1.00[AMR][1000 genomes]
rs28491098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35172462	1.00[AMR][1000 genomes]
rs4562284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105489400-105512800	Weak transcription	Gastric	stomach
2	chr8:105491400-105517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
4	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:105500800-105519800	Strong transcription	Dnd41	blood
6	chr8:105501400-105515000	Weak transcription	Spleen	Spleen
7	chr8:105501400-105516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:105501400-105517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:105501400-105517400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:105501600-105512200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:105501800-105518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:105501800-105521000	Weak transcription	NHEK	skin
14	chr8:105502000-105518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:105503200-105511200	Weak transcription	Esophagus	oesophagus
16	chr8:105503600-105519000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:105503600-105520800	Weak transcription	Pancreas	Pancrea
18	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
19	chr8:105503800-105516200	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:105503800-105525000	Weak transcription	Fetal Stomach	stomach
21	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
22	chr8:105504400-105512200	Weak transcription	Liver	Liver
23	chr8:105505000-105513200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:105505000-105515800	Weak transcription	A549	lung
25	chr8:105505400-105521800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:105505600-105512000	Strong transcription	Fetal Thymus	thymus
27	chr8:105505800-105511800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:105506000-105511600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:105506000-105520800	Weak transcription	Brain Angular Gyrus	brain
30	chr8:105506400-105520000	Weak transcription	Right Ventricle	heart
31	chr8:105507000-105511800	Strong transcription	Osteobl	bone
32	chr8:105507400-105513000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:105508000-105511800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:105508200-105511000	Strong transcription	Left Ventricle	heart
35	chr8:105508600-105511200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:105508600-105512400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:105508800-105511800	Strong transcription	NH-A	brain
38	chr8:105509000-105511000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:105509000-105511600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:105509000-105511600	Strong transcription	Brain Germinal Matrix	brain
41	chr8:105509000-105511800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:105509000-105511800	Strong transcription	HSMM	muscle
43	chr8:105509200-105511000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:105509200-105511000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:105509200-105511000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:105509200-105511000	Strong transcription	Fetal Lung	lung
47	chr8:105509200-105511000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:105509200-105511200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:105509200-105511400	Strong transcription	Adipose Nuclei	Adipose
50	chr8:105509200-105511400	Strong transcription	Brain Anterior Caudate	brain

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