Variant report

Variant	rs10519917
Chromosome Location	chr4:148735644-148735645
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	chr4:148733282..148735800-chr4:148746923..148749259,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10001327	0.81[ASN][1000 genomes]
rs10005192	0.82[EUR][1000 genomes]
rs10018903	0.85[CEU][hapmap]
rs10029385	0.88[EUR][1000 genomes]
rs11724795	0.82[CEU][hapmap]
rs11935450	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944579	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12641291	0.85[CEU][hapmap]
rs12650219	0.85[CEU][hapmap]
rs17023770	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs17023845	0.82[CHB][hapmap];0.94[ASN][1000 genomes]
rs17023846	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17023870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023919	0.80[EUR][1000 genomes]
rs17023928	0.82[CEU][hapmap]
rs2043644	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs2134707	0.83[ASN][1000 genomes]
rs4240338	0.85[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs4240339	0.85[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs4419463	0.90[EUR][1000 genomes]
rs4835457	0.80[CHD][hapmap]
rs58068435	0.81[ASN][1000 genomes]
rs58274809	0.81[ASN][1000 genomes]
rs58762227	0.91[ASN][1000 genomes]
rs7655236	1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7683103	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs893022	0.85[CEU][hapmap]
rs9995896	0.85[CEU][hapmap]
rs9996108	0.85[CEU][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148721600-148737200	Weak transcription	Gastric	stomach
2	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:148729400-148742200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:148730000-148742200	Weak transcription	HSMM	muscle
5	chr4:148730200-148737400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:148731000-148736200	Weak transcription	Lung	lung
7	chr4:148731000-148736800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:148732200-148738800	Enhancers	Ovary	ovary
9	chr4:148732400-148738000	Enhancers	Psoas Muscle	Psoas
10	chr4:148732600-148736800	Weak transcription	Spleen	Spleen
11	chr4:148732600-148742200	Weak transcription	GM12878-XiMat	blood
12	chr4:148732600-148744000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:148733000-148739400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:148733200-148736000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:148733200-148736600	Weak transcription	Primary T cells from cord blood	blood
16	chr4:148733200-148742400	Weak transcription	Fetal Intestine Small	intestine
17	chr4:148733400-148736200	Enhancers	Adipose Nuclei	Adipose
18	chr4:148733400-148736200	Weak transcription	Right Ventricle	heart
19	chr4:148733400-148736800	Weak transcription	Thymus	Thymus
20	chr4:148733400-148738800	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:148733600-148736600	Weak transcription	Fetal Thymus	thymus
22	chr4:148734000-148736200	Enhancers	HSMMtube	muscle
23	chr4:148734000-148742800	Weak transcription	Fetal Lung	lung
24	chr4:148734200-148735800	Enhancers	NHDF-Ad	bronchial
25	chr4:148734200-148738000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:148734400-148735800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:148734400-148736000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:148734400-148736400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:148734400-148736400	Enhancers	HMEC	breast
30	chr4:148734600-148735800	Enhancers	NHEK	skin
31	chr4:148734600-148761000	Weak transcription	Fetal Kidney	kidney
32	chr4:148734800-148736200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:148734800-148736400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:148734800-148742000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:148735000-148735800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:148735000-148735800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:148735000-148736200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:148735000-148737400	Weak transcription	Fetal Stomach	stomach
39	chr4:148735000-148739000	Enhancers	Stomach Smooth Muscle	stomach
40	chr4:148735000-148739200	Enhancers	Colon Smooth Muscle	Colon
41	chr4:148735000-148739200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:148735000-148741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:148735200-148736600	Enhancers	Stomach Mucosa	stomach
44	chr4:148735200-148737800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:148735400-148736000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:148735400-148736200	Weak transcription	Aorta	Aorta
47	chr4:148735400-148736200	Weak transcription	Esophagus	oesophagus
48	chr4:148735400-148736200	Weak transcription	Left Ventricle	heart
49	chr4:148735400-148736200	Weak transcription	Right Atrium	heart
50	chr4:148735400-148737000	Weak transcription	Fetal Heart	heart

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