Variant report

Variant	rs41272427
Chromosome Location	chr8:61531360-61531361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61530201..61533148-chr8:61561938..61565788,3	K562	blood:
2	chr8:61525465..61527090-chr8:61529519..61532324,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62510205	1.00[ASN][1000 genomes]
rs62510241	1.00[ASN][1000 genomes]
rs72650439	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	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
5	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:109 , 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	chr8:61506000-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:61506400-61532400	Weak transcription	NHLF	lung
4	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
5	chr8:61515600-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:61515600-61533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:61516000-61532000	Weak transcription	NHDF-Ad	bronchial
8	chr8:61516200-61533200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:61517800-61532200	Weak transcription	Small Intestine	intestine
10	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:61518000-61532000	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:61518000-61532000	Weak transcription	Fetal Brain Male	brain
13	chr8:61518000-61534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
15	chr8:61518200-61531400	Weak transcription	Fetal Brain Female	brain
16	chr8:61518200-61532000	Weak transcription	Brain Substantia Nigra	brain
17	chr8:61518200-61532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:61518200-61532200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:61518200-61532200	Weak transcription	Fetal Thymus	thymus
20	chr8:61518200-61532200	Weak transcription	Ovary	ovary
21	chr8:61518200-61532200	Weak transcription	Pancreas	Pancrea
22	chr8:61518200-61532800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:61518200-61533200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:61518200-61533200	Weak transcription	A549	lung
25	chr8:61518200-61535000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:61518200-61535600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:61518200-61537200	Weak transcription	Gastric	stomach
28	chr8:61518200-61537400	Weak transcription	Spleen	Spleen
29	chr8:61518400-61536400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:61519000-61535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:61519000-61535800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
33	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
34	chr8:61520600-61535200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:61522000-61532400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:61522000-61535000	Weak transcription	Thymus	Thymus
37	chr8:61522000-61538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:61522000-61538400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:61522000-61538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:61522200-61531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:61522200-61531600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr8:61522200-61533200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:61522400-61532200	Weak transcription	Fetal Stomach	stomach
44	chr8:61522400-61532200	Weak transcription	Right Ventricle	heart
45	chr8:61522400-61532600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:61522600-61533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:61522600-61538600	Weak transcription	Left Ventricle	heart
48	chr8:61522800-61531800	Weak transcription	Fetal Lung	lung
49	chr8:61522800-61532200	Weak transcription	HepG2	liver
50	chr8:61522800-61538600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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