Variant report

Variant	rs4253077
Chromosome Location	chr10:50722969-50722970
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50722386..50724704-chr10:50727797..50729912,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1018603	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10745261	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	1.00[ASN][1000 genomes]
rs10776573	1.00[ASN][1000 genomes]
rs10776577	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101147	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1475255	1.00[ASN][1000 genomes]
rs1917800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924490	1.00[ASN][1000 genomes]
rs1924492	1.00[ASN][1000 genomes]
rs2103201	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104346	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4253026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253073	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253087	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4253120	1.00[ASN][1000 genomes]
rs4253132	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253162	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253164	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4838524	1.00[CHB][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4838530	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57509152	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537536	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7072383	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7076173	1.00[ASN][1000 genomes]
rs7080017	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7091005	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72792895	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793798	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902661	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903788	1.00[ASN][1000 genomes]
rs7903930	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7916873	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs912470	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	1.00[CHB][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50685000-50723400	Weak transcription	NHLF	lung
2	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
4	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
7	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
8	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
9	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
10	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:50691000-50724400	Weak transcription	Lung	lung
12	chr10:50691000-50728200	Weak transcription	Gastric	stomach
13	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
14	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
15	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
16	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
18	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
19	chr10:50706000-50723400	Weak transcription	Aorta	Aorta
20	chr10:50706000-50723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:50706400-50726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:50707000-50723600	Weak transcription	Brain Germinal Matrix	brain
23	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
24	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:50708200-50723400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr10:50708200-50723400	Weak transcription	K562	blood
27	chr10:50708800-50723200	Weak transcription	HSMM	muscle
28	chr10:50708800-50723400	Weak transcription	Adipose Nuclei	Adipose
29	chr10:50708800-50723400	Weak transcription	Pancreas	Pancrea
30	chr10:50711400-50723000	Weak transcription	Liver	Liver
31	chr10:50711600-50723200	Weak transcription	Hela-S3	cervix
32	chr10:50711600-50723400	Weak transcription	Fetal Intestine Large	intestine
33	chr10:50711600-50727800	Weak transcription	Right Atrium	heart
34	chr10:50713800-50723400	Weak transcription	NH-A	brain
35	chr10:50714200-50723200	Weak transcription	HMEC	breast
36	chr10:50714200-50723600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:50715800-50727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:50716200-50731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:50716800-50723400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr10:50716800-50726600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:50717000-50723000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:50717000-50723000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr10:50717000-50723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:50717000-50723400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:50717000-50723400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr10:50717000-50723400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:50717000-50723400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:50717000-50723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:50717000-50724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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