Variant report

Variant	rs6737745
Chromosome Location	chr2:40674308-40674309
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	chr2:40673684..40676134-chr2:40676375..40679373,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183023	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10164458	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12105772	0.94[YRI][hapmap]
rs1990609	0.82[CEU][hapmap]
rs1990610	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4245783	0.96[CEU][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4411757	0.90[ASN][1000 genomes]
rs4450659	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs4557029	0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4557030	0.85[ASN][1000 genomes]
rs4952414	0.85[ASN][1000 genomes]
rs4952620	0.89[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6544338	0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6544339	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6719806	0.92[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6719986	0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6749800	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7349326	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40648200-40676400	Weak transcription	Fetal Kidney	kidney
2	chr2:40653000-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:40662600-40677200	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:40663600-40677000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:40663600-40677000	Weak transcription	Aorta	Aorta
6	chr2:40663800-40677600	Weak transcription	HSMMtube	muscle
7	chr2:40665200-40675200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40665400-40674800	Weak transcription	NHLF	lung
9	chr2:40666600-40676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:40666600-40676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:40666600-40677200	Weak transcription	Right Ventricle	heart
12	chr2:40666800-40675400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:40667000-40676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:40667000-40676400	Weak transcription	HMEC	breast
15	chr2:40667200-40675200	Weak transcription	NHDF-Ad	bronchial
16	chr2:40668200-40675600	Weak transcription	Osteobl	bone
17	chr2:40668400-40676600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:40668600-40677200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:40669600-40676800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:40670400-40674600	Strong transcription	HSMM	muscle
21	chr2:40671400-40675400	Weak transcription	Fetal Brain Female	brain
22	chr2:40672000-40675600	Genic enhancers	Dnd41	blood
23	chr2:40672200-40678200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:40672600-40675800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:40672600-40676800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:40672800-40675600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:40672800-40676800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:40673000-40675000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:40673400-40677200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:40673600-40675600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:40673600-40675600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:40673600-40677000	Weak transcription	Fetal Stomach	stomach
33	chr2:40673600-40677200	Weak transcription	Placenta	Placenta
34	chr2:40673800-40675200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:40673800-40675200	Weak transcription	Fetal Brain Male	brain
36	chr2:40673800-40676400	Weak transcription	Brain Germinal Matrix	brain
37	chr2:40673800-40676400	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:40673800-40677000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:40673800-40677000	Weak transcription	Primary B cells from cord blood	blood
40	chr2:40673800-40677200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:40674000-40674400	Weak transcription	Right Atrium	heart
42	chr2:40674000-40674600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:40674000-40675200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:40674000-40675600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:40674000-40677200	Weak transcription	Left Ventricle	heart
46	chr2:40674000-40679600	Enhancers	Fetal Heart	heart
47	chr2:40674200-40675200	Weak transcription	Primary monocytes fromperipheralblood	blood

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