Variant report

Variant	rs7589307
Chromosome Location	chr2:190015811-190015812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190012942..190018195-chr2:190085147..190088368,4	MCF-7	breast:
2	chr2:190011309..190014664-chr2:190015340..190018196,3	MCF-7	breast:
3	chr2:190009672..190012022-chr2:190013426..190016252,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16831116	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831202	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831276	1.00[AMR][1000 genomes]
rs16831285	1.00[AMR][1000 genomes]
rs16831348	1.00[AMR][1000 genomes]
rs6712164	1.00[AMR][1000 genomes]
rs7557599	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7573786	1.00[AMR][1000 genomes]
rs7576519	0.90[YRI][hapmap]
rs7588990	1.00[AMR][1000 genomes]
rs7592325	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189984000-190016800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:189993800-190017000	Weak transcription	Ovary	ovary
3	chr2:190009000-190016000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:190009800-190017200	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:190011200-190020800	Enhancers	NHDF-Ad	bronchial
6	chr2:190011600-190016200	Weak transcription	Fetal Lung	lung
7	chr2:190012200-190016800	Weak transcription	HSMMtube	muscle
8	chr2:190012400-190018000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:190012600-190017200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:190013200-190017000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:190013600-190017200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:190014000-190016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:190014200-190016000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:190014200-190016800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:190014200-190017200	Enhancers	Osteobl	bone
16	chr2:190014400-190016000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:190014600-190019200	Enhancers	NHLF	lung
18	chr2:190014800-190016200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:190015000-190016400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:190015200-190016200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:190015200-190016200	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:190015200-190017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:190015200-190017000	Weak transcription	Fetal Stomach	stomach
24	chr2:190015200-190026600	Weak transcription	Liver	Liver
25	chr2:190015400-190017000	Strong transcription	HSMM	muscle
26	chr2:190015400-190017200	Weak transcription	Aorta	Aorta
27	chr2:190015600-190017000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:190015600-190017000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:190015600-190017800	Enhancers	A549	lung
30	chr2:190015800-190016000	Enhancers	Colon Smooth Muscle	Colon
31	chr2:190015800-190016200	Strong transcription	NH-A	brain
32	chr2:190015800-190017000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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