Variant report

Variant	rs3737941
Chromosome Location	chr1:186113931-186113932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186111863..186115556-chr1:186121315..186123717,4	K562	blood:
2	chr1:186113643..186115541-chr1:186116096..186118117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489755	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10489756	0.95[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs10752962	0.92[ASN][1000 genomes]
rs10798035	0.81[CHD][hapmap]
rs10798037	0.86[ASN][1000 genomes]
rs10911810	0.81[CHD][hapmap]
rs10911825	0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs10911826	0.86[ASN][1000 genomes]
rs10911828	0.87[ASN][1000 genomes]
rs10911829	0.83[ASN][1000 genomes]
rs12061689	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12080760	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs12122227	0.82[ASN][1000 genomes]
rs12124204	0.86[ASN][1000 genomes]
rs12133656	0.88[ASN][1000 genomes]
rs12565788	0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs1322374	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1322376	0.89[LWK][hapmap];0.93[YRI][hapmap]
rs1358936	0.87[ASN][1000 genomes]
rs1407434	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs2057387	0.83[ASN][1000 genomes]
rs2057388	0.82[ASN][1000 genomes]
rs2146098	0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs2224575	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2891230	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs3845367	0.86[ASN][1000 genomes]
rs4528072	0.82[ASN][1000 genomes]
rs4535962	0.86[ASN][1000 genomes]
rs4650694	0.95[ASN][1000 genomes]
rs4650695	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.96[ASN][1000 genomes]
rs4651300	0.94[ASN][1000 genomes]
rs4651302	0.84[CHD][hapmap]
rs6659783	0.86[ASN][1000 genomes]
rs6664918	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs6673390	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs6689111	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs6696910	0.86[ASN][1000 genomes]
rs6698064	0.82[ASN][1000 genomes]
rs6702313	0.82[ASN][1000 genomes]
rs6703518	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs721153	0.95[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs7512168	0.81[ASN][1000 genomes]
rs7516516	0.96[ASN][1000 genomes]
rs7545010	0.90[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs7549552	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs7552198	0.93[ASN][1000 genomes]
rs9286859	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[ASN][1000 genomes]
rs9286860	0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186073000-186121400	Weak transcription	NH-A	brain
4	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:186107200-186115000	Weak transcription	Adipose Nuclei	Adipose
6	chr1:186107400-186114600	Weak transcription	Liver	Liver
7	chr1:186108000-186115800	Weak transcription	Fetal Lung	lung
8	chr1:186109000-186121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:186109200-186124600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:186109400-186121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:186109600-186115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:186109600-186121200	Weak transcription	Osteobl	bone
13	chr1:186109800-186115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:186109800-186121400	Weak transcription	NHDF-Ad	bronchial
15	chr1:186109800-186121600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:186110000-186121200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:186112200-186117400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:186112600-186122000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:186113200-186115400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:186113200-186116000	Strong transcription	Left Ventricle	heart
21	chr1:186113200-186117200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:186113200-186117400	Weak transcription	Fetal Stomach	stomach
23	chr1:186113200-186124200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:186113400-186114000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:186113400-186115000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:186113400-186116400	Strong transcription	Aorta	Aorta
27	chr1:186113800-186114200	Weak transcription	Lung	lung
28	chr1:186113800-186135800	Weak transcription	Ovary	ovary

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