Variant report

Variant	rs59191343
Chromosome Location	chr8:11627471-11627472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
2	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
3	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
4	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
5	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
6	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
7	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
8	chr5:42992943..42993905-chr8:11627464..11628186,2	Hela-S3	cervix:
9	chr8:11626596..11628658-chr8:11659514..11662088,3	K562	blood:
10	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227203	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10094370	0.80[AFR][1000 genomes]
rs28599812	0.93[AFR][1000 genomes]
rs57808980	0.82[AFR][1000 genomes]
rs58228017	0.80[AFR][1000 genomes]
rs60599286	0.80[AFR][1000 genomes]
rs73663008	0.95[AFR][1000 genomes]
rs73666007	0.80[AFR][1000 genomes]
rs8191551	0.83[AFR][1000 genomes]
rs8191571	0.84[AFR][1000 genomes]
rs8191588	0.98[AFR][1000 genomes]
rs8191626	0.93[AFR][1000 genomes]
rs8191644	0.93[AFR][1000 genomes]
rs8191647	0.84[AFR][1000 genomes]
rs8191658	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11626000-11628200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:11626000-11628200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:11626000-11628200	Active TSS	Lung	lung
4	chr8:11626200-11627600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:11626400-11627600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:11626400-11627600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:11626400-11627600	Active TSS	NHEK	skin
8	chr8:11626400-11627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:11626400-11627800	Active TSS	Hela-S3	cervix
10	chr8:11626400-11628200	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:11626400-11628200	Active TSS	HSMM	muscle
12	chr8:11626600-11627600	Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:11626600-11627600	Active TSS	Fetal Intestine Small	intestine
14	chr8:11626600-11627600	Active TSS	K562	blood
15	chr8:11626600-11627600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr8:11626600-11627600	Active TSS	NH-A	brain
17	chr8:11626600-11627800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:11626600-11627800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:11626600-11627800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:11626600-11627800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:11626600-11627800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:11626600-11627800	Active TSS	Primary T cells from cord blood	blood
23	chr8:11626600-11627800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr8:11626600-11627800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:11626600-11627800	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr8:11626600-11627800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:11626600-11627800	Active TSS	Duodenum Mucosa	Duodenum
28	chr8:11626600-11627800	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:11626600-11628000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:11626600-11628000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:11626600-11628000	Active TSS	Fetal Brain Female	brain
32	chr8:11626600-11628000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr8:11626600-11628000	Active TSS	Right Ventricle	heart
34	chr8:11626600-11628000	Active TSS	Osteobl	bone
35	chr8:11626600-11628200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:11626600-11628200	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr8:11626600-11628200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:11626600-11628200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:11626600-11628200	Active TSS	Brain Anterior Caudate	brain
40	chr8:11626600-11628200	Active TSS	Brain Hippocampus Middle	brain
41	chr8:11626600-11628200	Active TSS	Brain Substantia Nigra	brain
42	chr8:11626600-11628200	Active TSS	Colon Smooth Muscle	Colon
43	chr8:11626600-11628200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr8:11626600-11628200	Active TSS	Psoas Muscle	Psoas
45	chr8:11626600-11628200	Active TSS	Right Atrium	heart
46	chr8:11626600-11628200	Active TSS	HepG2	liver
47	chr8:11626600-11628400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr8:11626600-11628400	Active TSS	A549	lung
49	chr8:11626600-11628400	Active TSS	HSMMtube	muscle
50	chr8:11626800-11627600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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