Variant report

Variant	rs41272433
Chromosome Location	chr8:61533756-61533757
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61531872..61533936-chr8:61540143..61541661,2	MCF-7	breast:
2	chr8:61531895..61534395-chr8:61564231..61565929,2	MCF-7	breast:
3	chr8:61527800..61530109-chr8:61531903..61534207,2	K562	blood:
4	chr8:61532436..61534213-chr8:61590243..61592692,2	MCF-7	breast:
5	chr8:61525459..61529300-chr8:61532493..61534738,4	K562	blood:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11989127	1.00[EUR][1000 genomes]
rs11992608	1.00[EUR][1000 genomes]
rs16926368	1.00[AMR][1000 genomes]
rs16926384	1.00[AMR][1000 genomes]
rs16926417	1.00[AMR][1000 genomes]
rs16926456	1.00[AMR][1000 genomes]
rs3898502	1.00[AMR][1000 genomes]
rs7004263	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7011437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840220	1.00[AMR][1000 genomes]
rs7841906	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:61518000-61534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
5	chr8:61518200-61535000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:61518200-61535600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:61518200-61537200	Weak transcription	Gastric	stomach
8	chr8:61518200-61537400	Weak transcription	Spleen	Spleen
9	chr8:61518400-61536400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:61519000-61535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:61519000-61535800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
13	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:61520600-61535200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:61522000-61535000	Weak transcription	Thymus	Thymus
16	chr8:61522000-61538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:61522000-61538400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:61522000-61538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:61522600-61533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:61522600-61538600	Weak transcription	Left Ventricle	heart
21	chr8:61522800-61538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:61523200-61535000	Weak transcription	Lung	lung
23	chr8:61524000-61535800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:61524200-61538600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:61527200-61535400	Weak transcription	K562	blood
26	chr8:61527600-61534000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:61528800-61535800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:61529200-61535600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr8:61529200-61536200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:61529200-61538200	Strong transcription	Primary B cells from cord blood	blood
31	chr8:61530200-61535600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:61530200-61536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:61530400-61536200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:61531600-61535200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr8:61531600-61535800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:61532000-61535400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:61532000-61535400	Strong transcription	Dnd41	blood
38	chr8:61532000-61536000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:61532000-61536200	Strong transcription	Liver	Liver
40	chr8:61532200-61534000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:61532200-61534200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:61532200-61535200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:61532200-61535200	Strong transcription	Fetal Thymus	thymus
44	chr8:61532400-61534600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:61532400-61536000	Strong transcription	Placenta	Placenta
46	chr8:61532600-61534000	Weak transcription	Pancreas	Pancrea
47	chr8:61532600-61534200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:61532600-61534400	Weak transcription	Right Ventricle	heart
49	chr8:61532600-61535200	Strong transcription	Osteobl	bone
50	chr8:61532600-61536000	Weak transcription	Brain Inferior Temporal Lobe	brain

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