Variant report

Variant	rs6845295
Chromosome Location	chr4:48662596-48662597
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48653618..48655271-chr4:48662495..48665309,2	K562	blood:
2	chr4:48659520..48661722-chr4:48662309..48664640,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61200248	0.87[AFR][1000 genomes]
rs7672975	0.86[AFR][1000 genomes]
rs7698095	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3387940	chr4:48659595-48663793	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3374966	chr4:48660220-48663168	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3421108	chr4:48660695-48662993	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv513131	chr4:48660898-48663246	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:48645400-48663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:48645400-48664200	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:48645600-48664200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:48648800-48669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:48653000-48666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:48653000-48667600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:48653200-48665800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:48653400-48669200	Weak transcription	Gastric	stomach
16	chr4:48653800-48664600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:48654400-48669600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:48656200-48664200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:48656200-48667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:48656200-48670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:48656600-48665600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr4:48656600-48665800	Weak transcription	NHEK	skin
24	chr4:48656600-48666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:48656600-48667600	Weak transcription	Left Ventricle	heart
26	chr4:48656600-48667800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:48656600-48667800	Weak transcription	Primary T cells from cord blood	blood
28	chr4:48656600-48667800	Weak transcription	Psoas Muscle	Psoas
29	chr4:48656600-48669800	Weak transcription	Esophagus	oesophagus
30	chr4:48656600-48674200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:48657000-48666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:48657000-48666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:48657200-48663600	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:48657400-48663600	Weak transcription	Fetal Lung	lung
36	chr4:48657400-48664600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:48657400-48667000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:48657400-48667800	Weak transcription	Aorta	Aorta
39	chr4:48657400-48686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
41	chr4:48657600-48662600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:48657600-48662800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:48657600-48663600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:48657600-48666000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:48657600-48666000	Weak transcription	Dnd41	blood
46	chr4:48657600-48667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:48657600-48667600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:48657600-48688600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:48659400-48664200	Weak transcription	Ovary	ovary
50	chr4:48661400-48664000	Weak transcription	Fetal Intestine Small	intestine

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