Variant report

Variant	rs4670548
Chromosome Location	chr2:36605585-36605586
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	chr2:36605517..36607622-chr2:36658577..36660490,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VIT-4	chr2:36605500-36605668	NONHSAT070080
2	lnc-VIT-4	chr2:36605500-36605668	NONHSAT070081

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10186135	0.80[AFR][1000 genomes]
rs11124514	0.83[EUR][1000 genomes]
rs11124516	0.80[AFR][1000 genomes]
rs1159133	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12465282	0.84[EUR][1000 genomes]
rs12465297	0.84[EUR][1000 genomes]
rs13394052	0.80[AFR][1000 genomes]
rs13407488	0.80[AFR][1000 genomes]
rs2113631	0.93[EUR][1000 genomes]
rs2113632	0.95[EUR][1000 genomes]
rs2161904	0.95[EUR][1000 genomes]
rs2888338	0.94[EUR][1000 genomes]
rs3755214	0.80[AFR][1000 genomes]
rs3770936	0.80[EUR][1000 genomes]
rs3770947	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3770955	0.87[EUR][1000 genomes]
rs3770963	0.95[EUR][1000 genomes]
rs4670554	0.80[AFR][1000 genomes]
rs6708545	0.87[EUR][1000 genomes]
rs6711707	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6721505	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6728742	0.82[EUR][1000 genomes]
rs7589917	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs888076	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:36598600-36607000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:36599400-36609600	Enhancers	HMEC	breast
6	chr2:36600000-36607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:36600000-36609000	Genic enhancers	HSMM	muscle
8	chr2:36600400-36612000	Genic enhancers	Osteobl	bone
9	chr2:36600600-36608800	Genic enhancers	Muscle Satellite Cultured Cells	--
10	chr2:36600800-36607200	Weak transcription	Pancreas	Pancrea
11	chr2:36601200-36605600	Enhancers	NHDF-Ad	bronchial
12	chr2:36603200-36607400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:36603400-36605800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:36603400-36606200	Enhancers	Psoas Muscle	Psoas
15	chr2:36603800-36607200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:36603800-36607600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:36603800-36612600	Weak transcription	Fetal Brain Female	brain
18	chr2:36604000-36605600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:36604000-36605600	Genic enhancers	NHLF	lung
20	chr2:36604000-36606200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:36604000-36606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:36604000-36606600	Enhancers	Fetal Heart	heart
24	chr2:36604000-36614400	Genic enhancers	HUVEC	blood vessel
25	chr2:36604000-36617000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:36604200-36605600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:36604200-36605600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:36604200-36605800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr2:36604200-36606400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:36604200-36606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:36604200-36606800	Genic enhancers	HepG2	liver
32	chr2:36604200-36607200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:36604200-36607400	Weak transcription	Fetal Lung	lung
34	chr2:36604400-36605600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:36604400-36606000	Weak transcription	NH-A	brain
36	chr2:36604400-36606400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:36604400-36606400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:36604400-36607000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:36604400-36607200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:36604400-36607200	Weak transcription	Fetal Stomach	stomach
41	chr2:36604400-36607200	Weak transcription	Spleen	Spleen
42	chr2:36604400-36607400	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:36604400-36607600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:36604400-36608000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:36604400-36608200	Weak transcription	Esophagus	oesophagus
46	chr2:36604400-36608200	Weak transcription	Right Atrium	heart
47	chr2:36604400-36608400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:36604400-36608600	Genic enhancers	NHEK	skin
49	chr2:36604400-36609400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:36604400-36611200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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