Variant report

Variant	rs2088347
Chromosome Location	chr8:11654488-11654489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11649932..11653064-chr8:11653128..11655366,3	K562	blood:
2	chr8:11650636..11652578-chr8:11653838..11655597,2	K562	blood:
3	chr8:11653120..11657894-chr8:11659261..11661744,5	K562	blood:
4	chr8:11652587..11657894-chr8:11658127..11661459,7	K562	blood:
5	chr8:11648977..11652066-chr8:11653536..11656484,3	MCF-7	breast:
6	chr8:11653668..11656600-chr8:11658872..11661623,3	MCF-7	breast:
7	chr8:11647279..11650078-chr8:11653979..11656723,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227203	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1293287	1.00[AMR][1000 genomes]
rs1296352	1.00[AMR][1000 genomes]
rs1692802	1.00[AMR][1000 genomes]
rs1874545	1.00[AMR][1000 genomes]
rs1965988	1.00[AMR][1000 genomes]
rs2252071	1.00[AMR][1000 genomes]
rs2645436	1.00[AMR][1000 genomes]
rs2645439	1.00[AMR][1000 genomes]
rs2645451	1.00[AMR][1000 genomes]
rs2740442	1.00[AMR][1000 genomes]
rs55991488	1.00[AMR][1000 genomes]
rs7833083	1.00[AMR][1000 genomes]
rs804255	1.00[AMR][1000 genomes]
rs804257	1.00[AMR][1000 genomes]
rs804259	1.00[AMR][1000 genomes]
rs804291	1.00[AMR][1000 genomes]
rs804294	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
2	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
3	chr8:11640800-11658600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:11641000-11658000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:11641000-11659600	Weak transcription	Right Atrium	heart
6	chr8:11641200-11658400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:11641200-11659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:11643600-11658200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:11643800-11659400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:11643800-11659600	Weak transcription	Aorta	Aorta
11	chr8:11644200-11658400	Weak transcription	Brain Germinal Matrix	brain
12	chr8:11644400-11659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:11644600-11654600	Weak transcription	Lung	lung
14	chr8:11644600-11654600	Weak transcription	Spleen	Spleen
15	chr8:11644600-11659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:11644800-11659000	Weak transcription	Primary T cells from cord blood	blood
17	chr8:11645000-11658600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:11645600-11654800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:11645600-11658200	Weak transcription	Primary B cells from cord blood	blood
20	chr8:11647400-11659400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:11647600-11656600	Weak transcription	Pancreas	Pancrea
22	chr8:11647600-11659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:11647600-11659400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:11647800-11657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:11648000-11657800	Weak transcription	NHEK	skin
26	chr8:11648000-11658600	Weak transcription	Fetal Brain Female	brain
27	chr8:11650000-11654600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:11652200-11658400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:11652800-11655200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:11653000-11654800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:11653000-11655000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:11653000-11655000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:11653000-11655000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:11653000-11655000	Active TSS	NHDF-Ad	bronchial
35	chr8:11653200-11654600	Flanking Active TSS	K562	blood
36	chr8:11653400-11654800	Flanking Active TSS	HepG2	liver
37	chr8:11653400-11655400	Enhancers	Fetal Thymus	thymus
38	chr8:11653600-11655000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr8:11653600-11655000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr8:11653800-11654600	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr8:11653800-11654600	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr8:11653800-11654800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:11653800-11654800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr8:11653800-11654800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:11653800-11654800	Flanking Active TSS	Ovary	ovary
46	chr8:11653800-11654800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr8:11653800-11654800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:11653800-11655000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr8:11653800-11655400	Enhancers	Stomach Mucosa	stomach
50	chr8:11653800-11656200	Enhancers	HUES6 Cell Line	embryonic stem cell

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