Variant report

Variant	rs1991618
Chromosome Location	chr3:156515747-156515748
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156515560..156517669-chr3:156523840..156525586,2	K562	blood:
2	chr3:156508375..156510192-chr3:156514735..156517661,2	MCF-7	breast:
3	chr3:156508939..156511033-chr3:156513884..156516615,2	K562	blood:
4	chr3:156512318..156515749-chr3:156532342..156535718,6	MCF-7	breast:
5	chr3:156498174..156501165-chr3:156515710..156519959,5	K562	blood:
6	chr3:156513783..156516386-chr3:156542982..156544882,2	MCF-7	breast:
7	chr3:156515429..156517896-chr3:156519184..156521324,2	K562	blood:

Variant related genes	Relation type
ENSG00000197980	Chromatin interaction
ENSG00000240875	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs13317783	0.83[AFR][1000 genomes]
rs13323819	1.00[AMR][1000 genomes]
rs1397191	1.00[AMR][1000 genomes]
rs16826731	1.00[AMR][1000 genomes]
rs16826938	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap]
rs28695987	1.00[AMR][1000 genomes]
rs4474996	1.00[MEX][hapmap]
rs56234943	1.00[AMR][1000 genomes]
rs57472927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59077786	0.81[AFR][1000 genomes]
rs60659904	1.00[AMR][1000 genomes]
rs61607068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6763560	0.83[AFR][1000 genomes]
rs6763606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6779040	1.00[AMR][1000 genomes]
rs6797924	0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[AMR][1000 genomes]
rs73873709	1.00[AMR][1000 genomes]
rs73873711	1.00[AMR][1000 genomes]
rs7609776	1.00[AMR][1000 genomes]
rs7610539	1.00[AMR][1000 genomes]
rs7610749	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7620352	1.00[AMR][1000 genomes]
rs7620432	0.89[ASW][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[AMR][1000 genomes]
rs7625660	0.83[AFR][1000 genomes]
rs7651446	0.85[MKK][hapmap]
rs9811311	0.87[ASW][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes]
rs9814160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9818849	0.83[AFR][1000 genomes]
rs9825950	0.86[AFR][1000 genomes]
rs9829961	1.00[AMR][1000 genomes]
rs9834930	1.00[AMR][1000 genomes]
rs9835232	1.00[AMR][1000 genomes]
rs9837209	1.00[AMR][1000 genomes]
rs9841118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9853712	1.00[AMR][1000 genomes]
rs9855517	0.82[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9859716	0.87[ASW][hapmap];1.00[MEX][hapmap]
rs9866769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9870674	1.00[AMR][1000 genomes]
rs9873467	1.00[AMR][1000 genomes]
rs9873640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9876941	0.83[AFR][1000 genomes]
rs9883215	0.87[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[AFR][1000 genomes]
rs9883478	1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[AMR][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	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv877686	chr3:156489509-156557697	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156502800-156528400	Weak transcription	Esophagus	oesophagus
2	chr3:156502800-156529000	Weak transcription	Liver	Liver
3	chr3:156504200-156516400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:156511000-156519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:156511200-156516600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:156511200-156529000	Weak transcription	Primary T cells from cord blood	blood
7	chr3:156511400-156518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:156511400-156530400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:156511600-156519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:156514000-156519600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:156514200-156517200	Weak transcription	A549	lung
12	chr3:156514200-156517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:156514400-156517400	Weak transcription	HMEC	breast
14	chr3:156514400-156517800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:156514400-156525400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:156514400-156525800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:156515000-156515800	Enhancers	Fetal Intestine Small	intestine
18	chr3:156515200-156515800	Enhancers	Fetal Intestine Large	intestine
19	chr3:156515400-156516400	Enhancers	NHEK	skin
20	chr3:156515600-156515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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