Variant report

Variant	rs61887019
Chromosome Location	chr11:57333893-57333894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57226847..57229273-chr11:57333715..57336392,3	K562	blood:
2	chr11:57333149..57335001-chr11:57423752..57425633,2	MCF-7	breast:
3	chr11:57333866..57335515-chr11:57412954..57415220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254602	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000166793	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10792104	0.92[ASN][1000 genomes]
rs10792106	0.92[ASN][1000 genomes]
rs10792107	0.92[ASN][1000 genomes]
rs11229057	0.92[ASN][1000 genomes]
rs28362945	0.82[ASN][1000 genomes]
rs3891975	0.95[ASN][1000 genomes]
rs4938871	0.92[ASN][1000 genomes]
rs4938873	0.92[ASN][1000 genomes]
rs4939152	0.92[ASN][1000 genomes]
rs4939153	0.92[ASN][1000 genomes]
rs61886733	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886736	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886997	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7112126	0.92[ASN][1000 genomes]
rs7123582	0.92[ASN][1000 genomes]
rs7124330	0.92[ASN][1000 genomes]
rs7128015	0.92[ASN][1000 genomes]
rs7131076	0.92[ASN][1000 genomes]
rs7940223	0.92[ASN][1000 genomes]
rs7950126	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57320600-57334800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:57322000-57334600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57324000-57334000	Weak transcription	Pancreas	Pancrea
4	chr11:57326800-57334000	Weak transcription	Esophagus	oesophagus
5	chr11:57327000-57334000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:57328000-57334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:57328000-57334000	Weak transcription	Gastric	stomach
8	chr11:57329800-57334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:57330200-57334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:57332800-57334000	Enhancers	Lung	lung
11	chr11:57332800-57334800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr11:57332800-57335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:57333000-57334000	Active TSS	Colonic Mucosa	Colon
14	chr11:57333000-57334000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:57333000-57334200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:57333000-57334400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:57333000-57334800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:57333000-57335000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr11:57333000-57335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:57333000-57335000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:57333200-57334000	Active TSS	Stomach Smooth Muscle	stomach
22	chr11:57333200-57334200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:57333200-57334200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr11:57333200-57334200	Flanking Active TSS	Stomach Mucosa	stomach
25	chr11:57333200-57334400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:57333200-57334400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr11:57333200-57334400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:57333200-57334400	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr11:57333200-57334400	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr11:57333200-57334400	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr11:57333200-57334400	Flanking Active TSS	NHLF	lung
32	chr11:57333200-57334600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:57333200-57334800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:57333200-57334800	Flanking Active TSS	Fetal Lung	lung
35	chr11:57333200-57335000	Flanking Active TSS	Liver	Liver
36	chr11:57333200-57335800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:57333200-57336000	Active TSS	GM12878-XiMat	blood
38	chr11:57333200-57336200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr11:57333200-57336400	Active TSS	Fetal Brain Female	brain
40	chr11:57333400-57334000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:57333400-57334000	Active TSS	Psoas Muscle	Psoas
42	chr11:57333400-57334200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:57333400-57334200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr11:57333400-57334400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:57333400-57334400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr11:57333400-57334400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:57333400-57334400	Flanking Active TSS	Fetal Thymus	thymus
48	chr11:57333400-57334400	Flanking Active TSS	NHEK	skin
49	chr11:57333400-57334600	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr11:57333400-57334800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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