Variant report

Variant	rs12801084
Chromosome Location	chr11:72991793-72991794
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72986629..72988131-chr11:72989810..72992579,2	MCF-7	breast:
2	chr11:72990557..72993026-chr11:72999122..73001314,2	MCF-7	breast:
3	chr11:72989464..72991794-chr11:72995761..72997538,2	MCF-7	breast:
4	chr11:72947544..72950134-chr11:72991556..72993781,2	K562	blood:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction
ENSG00000260401	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10898913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898915	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235699	1.00[JPT][hapmap]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235705	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11235706	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11235707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12363628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787775	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790447	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12790863	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12794405	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023835	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35963948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs67897720	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106903	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7925649	1.00[JPT][hapmap]
rs7930891	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942649	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9988805	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 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	chr11:72980400-72998400	Weak transcription	Right Atrium	heart
2	chr11:72983400-72994600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:72983600-72994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:72984600-73000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:72985000-72992000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:72986200-72991800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:72986200-72999800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:72986800-72992200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:72986800-72992400	Weak transcription	Esophagus	oesophagus
10	chr11:72987000-72992400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:72990600-72995600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:72990800-72995600	Genic enhancers	Fetal Intestine Small	intestine
13	chr11:72991000-72993600	Genic enhancers	Placenta	Placenta
14	chr11:72991000-72995600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:72991200-72991800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:72991200-72994400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:72991200-72995800	Enhancers	Fetal Intestine Large	intestine
18	chr11:72991400-72992400	Enhancers	Spleen	Spleen
19	chr11:72991400-72992600	Weak transcription	Adipose Nuclei	Adipose
20	chr11:72991600-72991800	Flanking Active TSS	Stomach Mucosa	stomach
21	chr11:72991600-72992000	Genic enhancers	A549	lung
22	chr11:72991600-72992000	Enhancers	Osteobl	bone
23	chr11:72991600-72992600	Enhancers	Fetal Thymus	thymus
24	chr11:72991600-72993400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:72991600-72993600	Enhancers	Fetal Muscle Leg	muscle
26	chr11:72991600-72993600	Enhancers	GM12878-XiMat	blood
27	chr11:72991600-72995000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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