Variant report

Variant	rs760242
Chromosome Location	chr11:71146576-71146577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71146059..71148297-chr11:71153188..71155860,2	K562	blood:
2	chr11:71144482..71146798-chr11:71158407..71160975,3	K562	blood:
3	chr11:71145861..71148478-chr11:71150680..71152334,2	K562	blood:
4	chr11:71138540..71142714-chr11:71144455..71147360,4	K562	blood:
5	chr11:71144398..71146962-chr11:71155881..71158329,2	K562	blood:

Variant related genes	Relation type
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12282060	1.00[CHD][hapmap]
rs7950441	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518163	chr11:71142350-71155153	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71135000-71150600	Weak transcription	NH-A	brain
2	chr11:71137200-71149600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
4	chr11:71140800-71154000	Weak transcription	Fetal Lung	lung
5	chr11:71140800-71154000	Weak transcription	HSMM	muscle
6	chr11:71141200-71148200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:71142400-71146800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:71142800-71147800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:71143000-71148200	Weak transcription	NHDF-Ad	bronchial
10	chr11:71143000-71148400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:71143000-71150600	Weak transcription	Osteobl	bone
12	chr11:71143600-71149400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:71144000-71147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:71144000-71156200	Strong transcription	Fetal Brain Female	brain
15	chr11:71144200-71147000	Genic enhancers	Spleen	Spleen
16	chr11:71144200-71152000	Weak transcription	Fetal Thymus	thymus
17	chr11:71144200-71158200	Weak transcription	Small Intestine	intestine
18	chr11:71144400-71156200	Strong transcription	Primary T cells from cord blood	blood
19	chr11:71144600-71148000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:71144600-71148400	Weak transcription	Pancreas	Pancrea
21	chr11:71144600-71157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:71144800-71147200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:71144800-71147200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:71144800-71149400	Weak transcription	Primary B cells from cord blood	blood
25	chr11:71144800-71156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:71144800-71156800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:71144800-71156800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:71144800-71157800	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr11:71145000-71146800	Strong transcription	GM12878-XiMat	blood
30	chr11:71145000-71147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:71145000-71147000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:71145000-71147600	Strong transcription	NHEK	skin
33	chr11:71145000-71148000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:71145000-71148800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:71145000-71149800	Weak transcription	Psoas Muscle	Psoas
36	chr11:71145000-71150800	Weak transcription	A549	lung
37	chr11:71145000-71155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:71145000-71156400	Strong transcription	Brain Germinal Matrix	brain
39	chr11:71145000-71156600	Strong transcription	Fetal Stomach	stomach
40	chr11:71145000-71157000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:71145000-71157000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:71145000-71157400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:71145000-71157800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:71145000-71158600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:71145200-71146600	Weak transcription	Adipose Nuclei	Adipose
46	chr11:71145200-71148200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:71145200-71148800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:71145200-71156200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:71145200-71157000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:71145200-71157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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