Variant report

Variant	rs4253087
Chromosome Location	chr10:50716340-50716341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr10:50716191-50716799	GM12878	blood:	n/a	chr10:50716501-50716518
2	NFIC	chr10:50716295-50716707	GM12878	blood:	n/a	n/a
3	RUNX3	chr10:50716235-50716760	GM12878	blood:	n/a	chr10:50716501-50716518
4	POLR2A	chr10:50716280-50716621	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50715569..50718101-chr10:50726217..50728314,2	K562	blood:
2	chr10:50715711..50718094-chr10:50726640..50728977,2	K562	blood:

Variant related genes	Relation type
ERCC6	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1018603	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745261	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776573	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776577	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	1.00[ASN][1000 genomes]
rs11101147	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475255	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917800	1.00[CHB][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1924490	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924492	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103201	1.00[ASN][1000 genomes]
rs2104346	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4253026	1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253073	1.00[ASN][1000 genomes]
rs4253077	1.00[ASN][1000 genomes]
rs4253120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253132	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253162	1.00[ASN][1000 genomes]
rs4253164	1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838524	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838530	1.00[ASN][1000 genomes]
rs57509152	1.00[ASN][1000 genomes]
rs6537536	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7080017	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091005	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72792895	1.00[ASN][1000 genomes]
rs72793798	1.00[ASN][1000 genomes]
rs7902661	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7903788	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903930	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916873	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912470	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50685000-50723400	Weak transcription	NHLF	lung
2	chr10:50686400-50716400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:50686400-50716600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:50686600-50716800	Weak transcription	Brain Anterior Caudate	brain
5	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
7	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:50688200-50717000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:50690200-50718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
12	chr10:50690400-50716400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
14	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
15	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
16	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:50691000-50724400	Weak transcription	Lung	lung
18	chr10:50691000-50728200	Weak transcription	Gastric	stomach
19	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
20	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
21	chr10:50693400-50718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr10:50693400-50719400	Weak transcription	Fetal Intestine Small	intestine
23	chr10:50694800-50716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
25	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
27	chr10:50702200-50716400	Weak transcription	Esophagus	oesophagus
28	chr10:50702200-50716400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
30	chr10:50703200-50716800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:50706000-50723400	Weak transcription	Aorta	Aorta
32	chr10:50706000-50723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:50706400-50726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:50706800-50716400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:50707000-50723600	Weak transcription	Brain Germinal Matrix	brain
36	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
37	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:50708000-50716400	Weak transcription	Fetal Heart	heart
39	chr10:50708200-50723400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:50708200-50723400	Weak transcription	K562	blood
41	chr10:50708800-50716400	Weak transcription	Left Ventricle	heart
42	chr10:50708800-50718000	Weak transcription	Ovary	ovary
43	chr10:50708800-50723200	Weak transcription	HSMM	muscle
44	chr10:50708800-50723400	Weak transcription	Adipose Nuclei	Adipose
45	chr10:50708800-50723400	Weak transcription	Pancreas	Pancrea
46	chr10:50711000-50716800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:50711400-50716400	Weak transcription	Psoas Muscle	Psoas
48	chr10:50711400-50716400	Weak transcription	HUVEC	blood vessel
49	chr10:50711400-50716800	Weak transcription	Fetal Muscle Leg	muscle
50	chr10:50711400-50723000	Weak transcription	Liver	Liver

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