Variant report

Variant	rs7105784
Chromosome Location	chr11:47597945-47597946
allele	A/G
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	chr11:47597375-47598043	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47597915..47601799-chr11:47868286..47871887,4	K562	blood:
2	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
3	chr11:47597275..47600063-chr11:47600255..47602444,2	MCF-7	breast:

Variant related genes	Relation type
NDUFS3	TF binding region
ENSG00000231880	TF binding region
ENSG00000030066	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7119578	0.83[AMR][1000 genomes]
rs7941173	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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47588000-47599800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47588000-47600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:47588600-47598600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:47588600-47598800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:47588600-47599000	Strong transcription	Fetal Stomach	stomach
6	chr11:47588600-47599200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:47589200-47599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:47589200-47599000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:47589400-47599400	Strong transcription	Fetal Intestine Small	intestine
10	chr11:47589800-47598200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:47589800-47598600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:47589800-47599000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:47589800-47599000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:47589800-47599200	Strong transcription	Fetal Thymus	thymus
15	chr11:47590000-47598000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:47590000-47599000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:47590000-47599400	Strong transcription	Fetal Intestine Large	intestine
18	chr11:47590200-47599200	Strong transcription	Placenta	Placenta
19	chr11:47590400-47599200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:47590600-47598600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:47591000-47598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:47591000-47598000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:47591000-47598800	Strong transcription	Primary T cells from cord blood	blood
24	chr11:47591000-47599000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:47591000-47599000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:47591000-47599200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:47591200-47599000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:47591200-47599000	Strong transcription	Lung	lung
29	chr11:47591200-47599000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:47591400-47598600	Strong transcription	Thymus	Thymus
31	chr11:47592600-47598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:47592800-47598000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:47593800-47598800	Strong transcription	Fetal Kidney	kidney
34	chr11:47594800-47598600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:47594800-47599000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:47594800-47599000	Strong transcription	HSMM	muscle
37	chr11:47595000-47598400	Strong transcription	Esophagus	oesophagus
38	chr11:47595000-47598600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:47595000-47599000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr11:47595200-47598200	Strong transcription	Osteobl	bone
41	chr11:47595200-47598400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:47595200-47598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:47595200-47598600	Weak transcription	NHDF-Ad	bronchial
44	chr11:47595200-47598800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:47595200-47599000	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:47595400-47598000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:47595400-47598600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:47595400-47598600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:47595400-47598600	Weak transcription	Fetal Heart	heart
50	chr11:47595400-47598600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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