Variant report

Variant	rs9933031
Chromosome Location	chr16:81860709-81860710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81860692..81862847-chr16:81863459..81865538,2	K562	blood:
2	chr16:81844065..81846034-chr16:81859888..81862460,2	K562	blood:
3	chr16:81812864..81814428-chr16:81859190..81861370,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13335168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28380426	0.87[AFR][1000 genomes]
rs28546769	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28550771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609062	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28731296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4889406	0.85[TSI][hapmap]
rs55833904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56134131	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61635216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62046684	0.83[AMR][1000 genomes]
rs6564925	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7194131	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7204645	0.86[EUR][1000 genomes]
rs72832045	0.95[EUR][1000 genomes]
rs72832046	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72832048	0.95[EUR][1000 genomes]
rs72832051	1.00[EUR][1000 genomes]
rs72832057	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72832061	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72832066	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72832068	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72832071	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72832080	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8044282	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs8061071	0.95[EUR][1000 genomes]
rs9922196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940492	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1061544	chr16:81834313-81877375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81850800-81868200	Weak transcription	Esophagus	oesophagus
2	chr16:81855600-81865000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:81856000-81864800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:81856800-81862400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:81857200-81864600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:81857200-81865200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:81857200-81866400	Weak transcription	Right Atrium	heart
8	chr16:81857200-81867400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:81857400-81864400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:81857600-81862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:81857600-81864400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr16:81857800-81861600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr16:81858000-81860800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:81858000-81864800	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr16:81858200-81860800	Genic enhancers	Primary B cells from cord blood	blood
16	chr16:81858200-81861800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:81858400-81861600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:81858400-81862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:81858400-81862200	Weak transcription	Spleen	Spleen
20	chr16:81858400-81864800	Weak transcription	Thymus	Thymus
21	chr16:81858800-81867400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
23	chr16:81859800-81862400	Enhancers	Placenta	Placenta
24	chr16:81860200-81861600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr16:81860600-81861000	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr16:81860600-81861000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
27	chr16:81860600-81861400	Genic enhancers	Monocytes-CD14+_RO01746	blood

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