Variant report

Variant	rs8187726
Chromosome Location	chr10:50819401-50819402
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:50819168-50819957	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr10:50818492-50822122	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr10:50819004-50820437	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:50819089-50819480	H1-neurons	neurons:	n/a	n/a
5	MAX	chr10:50819034-50820415	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr10:50819240-50819440	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr10:50819055-50820158	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr10:50819126-50822240	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr10:50819285-50819539	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr10:50819150-50819516	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr10:50818546-50820543	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817979..50819560-chr10:50821869..50824788,2	K562	blood:
2	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:

No data

Variant related genes	Relation type
CHAT	TF binding region
ENSG00000070748	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8187729	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv550819	chr10:50815512-50835264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3410105	chr10:50816971-50819819	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3518245	chr10:50817146-50821244	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3518246	chr10:50817146-50821244	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50816600-50820000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr10:50816600-50820000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:50816800-50819800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:50817200-50820000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr10:50817400-50819600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
6	chr10:50817800-50820400	Bivalent Enhancer	Lung	lung
7	chr10:50817800-50822200	Enhancers	Pancreas	Pancrea
8	chr10:50818000-50820000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:50818000-50820400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr10:50818200-50819600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
11	chr10:50818200-50819800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:50818400-50820200	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr10:50818400-50820400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:50818400-50821200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr10:50818400-50822400	Bivalent Enhancer	Fetal Brain Male	brain
16	chr10:50818600-50819600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr10:50818600-50819600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:50818600-50819600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:50818600-50819600	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr10:50818600-50819800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:50818600-50819800	Bivalent Enhancer	NH-A	brain
22	chr10:50818600-50820000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:50818600-50820200	Bivalent Enhancer	Esophagus	oesophagus
24	chr10:50818600-50820200	Bivalent Enhancer	Left Ventricle	heart
25	chr10:50818600-50820400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
26	chr10:50818600-50820600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr10:50818600-50820800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr10:50818800-50819600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:50818800-50819800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:50818800-50820000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr10:50818800-50820200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr10:50818800-50820200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:50818800-50820200	Bivalent Enhancer	Psoas Muscle	Psoas
34	chr10:50818800-50820200	Enhancers	Right Atrium	heart
35	chr10:50818800-50821400	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr10:50819000-50819600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:50819000-50819600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:50819000-50819600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
39	chr10:50819000-50820200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr10:50819000-50820400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:50819000-50820600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr10:50819200-50819600	Bivalent Enhancer	Brain Angular Gyrus	brain
43	chr10:50819200-50819600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr10:50819200-50819800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
45	chr10:50819200-50819800	Bivalent Enhancer	Fetal Lung	lung
46	chr10:50819200-50820200	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr10:50819200-50820400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:50819200-50820400	Bivalent Enhancer	Fetal Stomach	stomach
49	chr10:50819200-50820600	Bivalent Enhancer	Spleen	Spleen
50	chr10:50819200-50821200	Bivalent Enhancer	Placenta	Placenta

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