Variant report

Variant	rs6730236
Chromosome Location	chr2:190008580-190008581
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190007586..190008586-chr2:190152561..190153255,4	K562	blood:
2	chr2:190007040..190008928-chr2:190150245..190153733,35	MCF-7	breast:
3	chr2:190007941..190008744-chr2:190146380..190147371,2	MCF-7	breast:
4	chr2:190008421..190011287-chr2:190151088..190152689,2	MCF-7	breast:
5	chr2:190007864..190009528-chr2:190088531..190091177,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016622	0.92[CHB][hapmap]
rs10191859	1.00[CEU][hapmap]
rs10201930	1.00[CEU][hapmap]
rs10208311	1.00[CEU][hapmap]
rs13005714	0.85[CHB][hapmap]
rs13020999	0.92[CHB][hapmap]
rs13024858	0.92[CHB][hapmap]
rs13030984	0.92[CHB][hapmap]
rs13425379	1.00[CEU][hapmap]
rs1515864	0.92[CHB][hapmap]
rs16830969	1.00[CEU][hapmap]
rs16830983	1.00[CEU][hapmap]
rs16830984	1.00[CEU][hapmap]
rs16831014	1.00[CEU][hapmap]
rs1949327	0.92[CHB][hapmap]
rs2138373	0.92[CHB][hapmap]
rs4417749	0.92[CHB][hapmap]
rs4667266	0.92[CHB][hapmap]
rs6434324	0.92[CHB][hapmap]
rs6749559	0.92[CHB][hapmap]
rs6752781	0.91[CHB][hapmap]
rs73051214	0.83[ASN][1000 genomes]
rs73051217	0.86[ASN][1000 genomes]
rs73051219	0.86[ASN][1000 genomes]
rs7560973	0.92[CHB][hapmap]
rs7607614	1.00[CEU][hapmap]
rs9288163	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:189981400-190014800	Weak transcription	Fetal Stomach	stomach
3	chr2:189984000-190016800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:189986000-190008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189993800-190017000	Weak transcription	Ovary	ovary
6	chr2:189994200-190010600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:189995400-190009000	Weak transcription	Adipose Nuclei	Adipose
8	chr2:189996000-190008800	Weak transcription	NHLF	lung
9	chr2:189997000-190008600	Weak transcription	NH-A	brain
10	chr2:189999000-190009400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:190000400-190013600	Weak transcription	Left Ventricle	heart
12	chr2:190002600-190009000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:190002800-190008800	Weak transcription	Osteobl	bone
14	chr2:190003000-190008800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:190003600-190014600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:190006600-190011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:190007400-190008600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:190007400-190008800	Enhancers	A549	lung
19	chr2:190007400-190009200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:190007800-190009600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:190007800-190010600	Strong transcription	HSMM	muscle
22	chr2:190008000-190008800	Weak transcription	Aorta	Aorta
23	chr2:190008000-190009000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:190008000-190009000	Enhancers	HSMMtube	muscle
25	chr2:190008000-190009200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:190008000-190010000	Enhancers	Fetal Lung	lung
27	chr2:190008000-190014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:190008200-190008800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:190008200-190009000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:190008400-190008600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:190008400-190008600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:190008400-190009000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:190008400-190009400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:190008400-190009800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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