Variant report

Variant	rs813856
Chromosome Location	chr4:48634001-48634002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48633555..48635188-chr4:48638228..48640192,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11935396	1.00[AMR][1000 genomes]
rs1702799	0.81[AFR][1000 genomes]
rs58322619	1.00[AMR][1000 genomes]
rs7666422	1.00[AMR][1000 genomes]
rs776583	0.81[AFR][1000 genomes]
rs776587	0.81[AFR][1000 genomes]
rs776595	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48563000-48637400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:48575200-48643000	Weak transcription	HSMMtube	muscle
3	chr4:48578600-48637000	Weak transcription	Esophagus	oesophagus
4	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:48594000-48637400	Weak transcription	Spleen	Spleen
6	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:48598200-48634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:48606800-48637800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:48606800-48645000	Weak transcription	Gastric	stomach
10	chr4:48609800-48637000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:48614600-48637000	Weak transcription	Small Intestine	intestine
12	chr4:48620200-48634800	Weak transcription	Aorta	Aorta
13	chr4:48620200-48634800	Weak transcription	Left Ventricle	heart
14	chr4:48620200-48637000	Weak transcription	Fetal Lung	lung
15	chr4:48620200-48637400	Weak transcription	Pancreas	Pancrea
16	chr4:48620200-48644800	Weak transcription	Fetal Stomach	stomach
17	chr4:48620400-48634800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:48620600-48635800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:48621200-48637200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:48621200-48642400	Weak transcription	Fetal Heart	heart
21	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
22	chr4:48621600-48634800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:48621800-48635000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:48621800-48637400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:48621800-48642200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:48621800-48645000	Weak transcription	Lung	lung
27	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
28	chr4:48622800-48637000	Weak transcription	Adipose Nuclei	Adipose
29	chr4:48622800-48637600	Weak transcription	Liver	Liver
30	chr4:48622800-48644800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:48622800-48648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:48623000-48634800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:48623000-48635600	Weak transcription	NHDF-Ad	bronchial
34	chr4:48623200-48634800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:48623200-48637000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:48623200-48637000	Weak transcription	Psoas Muscle	Psoas
37	chr4:48623200-48637000	Weak transcription	GM12878-XiMat	blood
38	chr4:48623200-48637400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:48623200-48637600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:48623200-48638200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:48623400-48634800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:48623400-48635000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:48623400-48635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:48623400-48637400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:48623400-48644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:48623600-48635000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:48623600-48635000	Weak transcription	Fetal Thymus	thymus
48	chr4:48623600-48637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:48623600-48637000	Weak transcription	HMEC	breast
50	chr4:48623600-48637400	Weak transcription	Primary hematopoietic stem cells	blood

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