Variant report

Variant	rs4707848
Chromosome Location	chr6:71415029-71415030
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71275330..71278071-chr6:71414560..71416337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154079	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11752509	0.87[ASN][1000 genomes]
rs13196394	0.88[ASN][1000 genomes]
rs17763077	0.86[ASN][1000 genomes]
rs2474921	0.91[EUR][1000 genomes]
rs34519120	0.84[ASN][1000 genomes]
rs35528153	0.92[ASN][1000 genomes]
rs4706459	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67594983	0.94[ASN][1000 genomes]
rs9354939	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9354940	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
5	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71395800-71417400	Weak transcription	Small Intestine	intestine
2	chr6:71404400-71417600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:71404600-71417400	Weak transcription	GM12878-XiMat	blood
4	chr6:71405600-71417600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:71405800-71417400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:71407400-71419200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:71407400-71419400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:71407800-71419000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:71407800-71419600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:71408000-71417600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:71408200-71420200	Weak transcription	Primary B cells from cord blood	blood
12	chr6:71408400-71418000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:71408800-71417600	Weak transcription	Stomach Mucosa	stomach
14	chr6:71409000-71416000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:71409600-71415200	Weak transcription	Aorta	Aorta
16	chr6:71409600-71419400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:71409800-71421600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:71409800-71422600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:71410000-71417800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:71410800-71417600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:71411200-71417600	Weak transcription	Primary T cells from cord blood	blood
22	chr6:71411200-71417800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:71411200-71421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:71411400-71415200	Weak transcription	Lung	lung
25	chr6:71411400-71415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:71411400-71419000	Weak transcription	Esophagus	oesophagus
27	chr6:71411400-71419000	Weak transcription	Gastric	stomach
28	chr6:71411400-71423200	Weak transcription	Psoas Muscle	Psoas
29	chr6:71411600-71416000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:71411600-71417600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:71411600-71417600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:71411600-71417600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:71411800-71415200	Weak transcription	Liver	Liver
34	chr6:71411800-71417600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:71412000-71417600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:71412800-71417600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:71414800-71415200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:71414800-71419200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:71414800-71419600	Weak transcription	NHDF-Ad	bronchial
40	chr6:71415000-71417600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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