Variant report

Variant	rs6728742
Chromosome Location	chr2:36590010-36590011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36581144..36585281-chr2:36586722..36590613,9	MCF-7	breast:
2	chr2:36581644..36585884-chr2:36589453..36593565,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10167098	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2113631	0.82[EUR][1000 genomes]
rs2113632	0.84[EUR][1000 genomes]
rs2161904	0.84[EUR][1000 genomes]
rs2888338	0.83[EUR][1000 genomes]
rs3732075	0.94[ASN][1000 genomes]
rs3770946	0.80[CEU][hapmap]
rs3770947	0.80[CEU][hapmap]
rs3770955	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770963	0.84[EUR][1000 genomes]
rs4670548	0.82[EUR][1000 genomes]
rs6708545	0.87[EUR][1000 genomes]
rs848498	0.80[JPT][hapmap]
rs848503	0.80[JPT][hapmap]
rs848507	0.80[JPT][hapmap]
rs888076	0.84[CEU][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	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36585200-36596400	Weak transcription	Pancreas	Pancrea
2	chr2:36585400-36590400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:36585800-36590600	Weak transcription	Colonic Mucosa	Colon
4	chr2:36585800-36596400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:36586000-36590200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:36586000-36590400	Enhancers	Fetal Lung	lung
7	chr2:36586000-36591800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:36586000-36593000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:36586000-36593600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:36586400-36591800	Enhancers	Placenta	Placenta
13	chr2:36586600-36596400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:36586800-36590200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:36586800-36592000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:36586800-36593800	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:36587000-36593800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:36587200-36592000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:36587200-36593800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:36587400-36590800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:36587400-36590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:36587400-36594000	Weak transcription	Fetal Stomach	stomach
23	chr2:36587800-36593800	Weak transcription	Fetal Intestine Small	intestine
24	chr2:36587800-36594000	Weak transcription	Right Ventricle	heart
25	chr2:36588000-36591600	Enhancers	HepG2	liver
26	chr2:36588000-36591800	Genic enhancers	HSMM	muscle
27	chr2:36588000-36593600	Weak transcription	Fetal Kidney	kidney
28	chr2:36588200-36590200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:36588200-36593800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:36588400-36593600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:36588600-36591800	Enhancers	HSMMtube	muscle
32	chr2:36588800-36590200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:36588800-36590200	Enhancers	Small Intestine	intestine
34	chr2:36588800-36592000	Enhancers	Stomach Smooth Muscle	stomach
35	chr2:36588800-36593600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:36589000-36590200	Enhancers	Left Ventricle	heart
37	chr2:36589000-36590400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:36589000-36594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:36589200-36590200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:36589200-36590200	Flanking Active TSS	NHEK	skin
41	chr2:36589200-36592000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:36589200-36592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:36589200-36592000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:36589200-36593600	Weak transcription	Brain Substantia Nigra	brain
45	chr2:36589200-36593800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:36589400-36590200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:36589400-36590200	Enhancers	Right Atrium	heart
48	chr2:36589400-36591000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:36589400-36592400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:36589400-36594000	Weak transcription	Fetal Brain Male	brain

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