Variant report

Variant	rs10495938
Chromosome Location	chr2:46991159-46991160
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46990483..46993440-chr2:46995579..46997950,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11889273	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11892177	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11892710	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11893159	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11893443	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893955	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11901688	1.00[ASN][1000 genomes]
rs17771005	1.00[YRI][hapmap]
rs17772309	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17821941	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17822668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17822704	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41320947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41349351	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41363351	0.87[AMR][1000 genomes]
rs41370847	0.88[ASN][1000 genomes]
rs41375646	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41379147	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41432848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41478946	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4575769	0.80[AFR][1000 genomes]
rs62134765	0.84[AFR][1000 genomes]
rs6721999	0.88[ASN][1000 genomes]
rs6731970	1.00[YRI][hapmap]
rs6735101	0.85[YRI][hapmap]
rs6749450	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72802489	0.82[AFR][1000 genomes]
rs7591613	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606134	1.00[ASN][1000 genomes]
rs9677705	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
3	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
4	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:46987000-46993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:46987200-46995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:46987200-46996200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:46987200-46997800	Weak transcription	Liver	Liver
11	chr2:46987400-46991200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:46987400-46991400	Weak transcription	NHLF	lung
13	chr2:46987400-46991600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:46987400-46992800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:46987400-46992800	Weak transcription	HSMMtube	muscle
16	chr2:46987400-46993200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:46987400-46993400	Weak transcription	Pancreas	Pancrea
18	chr2:46987400-46997000	Weak transcription	Fetal Lung	lung
19	chr2:46987400-46997400	Weak transcription	Fetal Stomach	stomach
20	chr2:46987400-46997600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:46987400-46997600	Weak transcription	Fetal Intestine Small	intestine
22	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
24	chr2:46987600-46991400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:46987600-46993800	Weak transcription	Primary T cells from cord blood	blood
26	chr2:46987600-46995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:46987600-46997000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:46987600-46997200	Weak transcription	HSMM	muscle
29	chr2:46987600-46997400	Weak transcription	Fetal Intestine Large	intestine
30	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:46987800-46997200	Weak transcription	NH-A	brain
32	chr2:46988200-46993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:46988200-46993800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:46988200-46997400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:46989400-46997200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:46990200-46991600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:46990400-46992200	Genic enhancers	Osteobl	bone
38	chr2:46990800-46991200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:46991000-46991200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:46991000-46991200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:46991000-46991400	Enhancers	HepG2	liver
42	chr2:46991000-46991600	Enhancers	Ovary	ovary
43	chr2:46991000-46992000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:46991000-46992000	Strong transcription	Primary B cells from cord blood	blood
45	chr2:46991000-46992000	Strong transcription	A549	lung
46	chr2:46991000-46992200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr2:46991000-46992200	Genic enhancers	NHDF-Ad	bronchial

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