Variant report

Variant	rs7596514
Chromosome Location	chr2:189878769-189878770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189873350..189876277-chr2:189877452..189879284,2	MCF-7	breast:
2	chr2:66334686..66335614-chr2:189878369..189879280,2	MCF-7	breast:
3	chr2:189872860..189874493-chr2:189877699..189880375,2	K562	blood:

Variant related genes	Relation type
ENSG00000168542	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13306270	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13306272	0.92[CHB][hapmap];0.90[CHD][hapmap];0.81[YRI][hapmap]
rs1516447	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17292943	0.86[CHB][hapmap];0.81[CHD][hapmap];0.80[MEX][hapmap]
rs17358825	0.92[CHB][hapmap]
rs1800255	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs1878201	0.92[CHB][hapmap]
rs2203602	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351420	1.00[CHB][hapmap]
rs3736487	0.92[CHB][hapmap];0.90[CHD][hapmap];0.80[MEX][hapmap]
rs3736489	0.89[ASW][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.81[LWK][hapmap]
rs3736490	0.92[CHB][hapmap];0.81[YRI][hapmap]
rs3768660	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666768	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667256	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667257	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667258	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62181744	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62181745	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715268	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6757347	0.86[CEU][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv875612	chr2:189841052-189878769	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv584061	chr2:189844000-189878769	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189847600-189879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:189866400-189879200	Weak transcription	Gastric	stomach
3	chr2:189869200-189878800	Weak transcription	Pancreas	Pancrea
4	chr2:189871600-189884600	Weak transcription	Fetal Kidney	kidney
5	chr2:189871800-189879200	Weak transcription	Fetal Brain Male	brain
6	chr2:189873200-189885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:189874000-189878800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:189874000-189880800	Weak transcription	Left Ventricle	heart
9	chr2:189874200-189878800	Weak transcription	Ovary	ovary
10	chr2:189874200-189879200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:189875400-189879000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:189876000-189878800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:189876000-189884400	Weak transcription	HSMMtube	muscle
14	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:189876400-189883400	Weak transcription	NH-A	brain
16	chr2:189876600-189878800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:189876800-189878800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:189876800-189879000	Weak transcription	Fetal Lung	lung
19	chr2:189877200-189879400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189877200-189879400	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:189877400-189886200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:189877600-189880200	Weak transcription	Placenta	Placenta
24	chr2:189877800-189879000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:189877800-189885200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:189878000-189882600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:189878000-189883600	Weak transcription	HSMM	muscle
28	chr2:189878000-189886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:189878200-189882400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:189878400-189879000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:189878400-189879200	Genic enhancers	NHDF-Ad	bronchial
32	chr2:189878400-189879800	Enhancers	NHLF	lung
33	chr2:189878600-189878800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:189878600-189878800	Enhancers	Aorta	Aorta
35	chr2:189878600-189879400	Enhancers	Osteobl	bone
36	chr2:189878600-189880000	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:189878600-189880800	Enhancers	Fetal Stomach	stomach

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