Variant report

Variant	rs4091077
Chromosome Location	chr2:183312302-183312303
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	chr2:183296401..183298106-chr2:183311342..183313093,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10931012	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11684406	0.92[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11689230	0.85[ASW][hapmap];0.96[CEU][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12468743	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12693307	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12989198	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13418736	0.85[AFR][1000 genomes]
rs1346773	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1367203	0.85[JPT][hapmap]
rs1370669	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430158	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1560370	0.92[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs1560371	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1560372	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823254	0.85[JPT][hapmap]
rs16823257	0.81[JPT][hapmap]
rs17343416	0.92[CEU][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs17356207	0.85[JPT][hapmap]
rs1897104	0.85[ASW][hapmap];0.82[GIH][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs2887202	0.82[GIH][hapmap]
rs6740889	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183298800-183320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183309200-183313800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:183309800-183313800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:183311000-183312600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:183311400-183313800	Weak transcription	Fetal Brain Male	brain
6	chr2:183311800-183312400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:183311800-183313400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:183311800-183313600	Enhancers	Osteobl	bone
9	chr2:183311800-183313800	Enhancers	HSMM	muscle
10	chr2:183312000-183312400	Enhancers	Aorta	Aorta
11	chr2:183312000-183312400	Enhancers	Left Ventricle	heart
12	chr2:183312000-183312800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:183312000-183312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:183312000-183313000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:183312000-183313400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:183312200-183312800	Enhancers	HSMMtube	muscle
17	chr2:183312200-183312800	Enhancers	NHDF-Ad	bronchial
18	chr2:183312200-183313000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:183312200-183313000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:183312200-183313000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:183312200-183313000	Enhancers	NHLF	lung
22	chr2:183312200-183313600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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