Variant report

Variant	rs36187654
Chromosome Location	chr8:42789985-42789986
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	chr8:42784463..42786679-chr8:42788078..42790226,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2249383	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2249476	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2249500	0.85[EUR][1000 genomes]
rs2680331	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9971326	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
6	chr8:42772600-42815400	Weak transcription	Gastric	stomach
7	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
8	chr8:42774200-42806400	Weak transcription	Lung	lung
9	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
10	chr8:42776000-42796800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:42776000-42797800	Weak transcription	K562	blood
12	chr8:42776000-42802600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
15	chr8:42776200-42791000	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:42776200-42793400	Weak transcription	Brain Substantia Nigra	brain
17	chr8:42776200-42810600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:42776400-42807200	Weak transcription	NHDF-Ad	bronchial
19	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:42777200-42805000	Weak transcription	A549	lung
21	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
22	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:42779400-42791000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:42780400-42790000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:42780600-42790000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
27	chr8:42782200-42798600	Weak transcription	Hela-S3	cervix
28	chr8:42782200-42806600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:42783200-42790200	Weak transcription	Fetal Brain Female	brain
31	chr8:42785000-42790200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:42785400-42790000	Strong transcription	Dnd41	blood
33	chr8:42785800-42790000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:42786200-42805200	Weak transcription	Fetal Kidney	kidney
35	chr8:42786400-42790800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:42786400-42792600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:42786400-42797400	Weak transcription	NHEK	skin
38	chr8:42786400-42800800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:42786400-42806600	Weak transcription	NHLF	lung
40	chr8:42786400-42807200	Weak transcription	Esophagus	oesophagus
41	chr8:42786600-42805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:42787800-42790200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:42787800-42793600	Weak transcription	Fetal Intestine Small	intestine
44	chr8:42787800-42794000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:42787800-42795400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:42787800-42796800	Weak transcription	Left Ventricle	heart
47	chr8:42787800-42798400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:42787800-42801200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:42787800-42805200	Weak transcription	HUVEC	blood vessel
50	chr8:42787800-42814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links