Variant report

Variant	rs4253073
Chromosome Location	chr10:50723684-50723685
allele	C/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	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10745261	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	1.00[ASN][1000 genomes]
rs10776573	1.00[ASN][1000 genomes]
rs10776577	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101147	0.99[AFR][1000 genomes];0.84[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];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.93[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];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104346	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4253026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253077	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	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253162	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253164	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4838524	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4838530	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57509152	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537536	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7072383	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7076173	1.00[ASN][1000 genomes]
rs7080017	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7091005	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72792895	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793798	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902661	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903788	1.00[ASN][1000 genomes]
rs7903930	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7916873	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs912470	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	1.00[CHB][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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
2	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
5	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
6	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:50691000-50724400	Weak transcription	Lung	lung
8	chr10:50691000-50728200	Weak transcription	Gastric	stomach
9	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
10	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
12	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
13	chr10:50706400-50726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
15	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr10:50711600-50727800	Weak transcription	Right Atrium	heart
17	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:50715800-50727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:50716200-50731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:50716800-50726600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:50717000-50724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:50717000-50727400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:50717200-50723800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:50717200-50724000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:50717200-50729400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:50717200-50731200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:50717200-50736200	Weak transcription	Colon Smooth Muscle	Colon
28	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
29	chr10:50717400-50724200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr10:50717400-50724400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:50717400-50724600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:50717400-50737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:50717600-50730600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr10:50717600-50731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr10:50718200-50726200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:50718200-50729200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:50718400-50723800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr10:50718600-50724200	Weak transcription	Psoas Muscle	Psoas
39	chr10:50718600-50725400	Weak transcription	Ovary	ovary
40	chr10:50718600-50726600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:50718600-50726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:50718800-50723800	Weak transcription	Brain Hippocampus Middle	brain
43	chr10:50718800-50726200	Weak transcription	Brain Substantia Nigra	brain
44	chr10:50718800-50726200	Weak transcription	Fetal Stomach	stomach
45	chr10:50718800-50726600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:50718800-50727600	Weak transcription	Brain Angular Gyrus	brain
47	chr10:50718800-50727800	Weak transcription	Esophagus	oesophagus
48	chr10:50719800-50726000	Weak transcription	Fetal Intestine Small	intestine
49	chr10:50720000-50728200	Weak transcription	Fetal Thymus	thymus
50	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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