Variant report

Variant	rs12257173
Chromosome Location	chr10:38646368-38646369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11011492	1.00[EUR][1000 genomes]
rs11011493	1.00[EUR][1000 genomes]
rs11011582	1.00[AMR][1000 genomes]
rs11498331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11498337	1.00[AMR][1000 genomes]
rs12240841	1.00[EUR][1000 genomes]
rs12242023	1.00[AMR][1000 genomes]
rs12242170	1.00[AMR][1000 genomes]
rs12244101	1.00[AMR][1000 genomes]
rs12247862	1.00[AMR][1000 genomes]
rs12250039	1.00[AMR][1000 genomes]
rs12252556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12259006	1.00[AMR][1000 genomes]
rs12261622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12264035	1.00[AMR][1000 genomes]
rs12771655	1.00[AFR][1000 genomes]
rs28886590	1.00[AMR][1000 genomes]
rs34453975	1.00[AMR][1000 genomes]
rs34579247	1.00[AFR][1000 genomes]
rs35427829	1.00[AMR][1000 genomes]
rs35769459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59353999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71235515	1.00[AMR][1000 genomes]
rs71491240	1.00[AFR][1000 genomes]
rs71491244	1.00[AFR][1000 genomes]
rs71494838	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71498883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71500421	1.00[AMR][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	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv33710	chr10:38545898-38671289	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv427860	chr10:38588021-38818835	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv895034	chr10:38632352-38743545	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv947859	chr10:38633447-38674546	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2764202	chr10:38641508-39076221	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1048953	chr10:38645824-39074038	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38643600-38647000	Active TSS	HepG2	liver
2	chr10:38644600-38646400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:38644600-38646400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr10:38644600-38646400	Active TSS	Fetal Kidney	kidney
5	chr10:38644600-38646400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr10:38644600-38646400	Active TSS	HSMMtube	muscle
7	chr10:38644600-38646600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:38644600-38646800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:38644600-38647000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr10:38644600-38647800	Active TSS	GM12878-XiMat	blood
11	chr10:38644800-38646400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:38644800-38646400	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr10:38644800-38646400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr10:38644800-38646400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:38644800-38646400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:38644800-38646400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:38644800-38646400	Active TSS	Brain Angular Gyrus	brain
18	chr10:38644800-38646400	Active TSS	Fetal Lung	lung
19	chr10:38644800-38646400	Active TSS	NHDF-Ad	bronchial
20	chr10:38644800-38646400	Active TSS	NHLF	lung
21	chr10:38644800-38646600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr10:38644800-38646600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:38644800-38646600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:38644800-38646800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:38645000-38646400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:38645000-38646400	Active TSS	Stomach Smooth Muscle	stomach
27	chr10:38645000-38646800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:38645200-38646400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr10:38645200-38647000	Active TSS	HMEC	breast
30	chr10:38645200-38647200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr10:38645400-38646400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:38645600-38655200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:38645600-38660000	Weak transcription	Spleen	Spleen
34	chr10:38645600-38660200	Weak transcription	Aorta	Aorta
35	chr10:38645600-38661600	Weak transcription	Small Intestine	intestine
36	chr10:38645800-38647000	Enhancers	Fetal Brain Male	brain
37	chr10:38645800-38647600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:38645800-38648000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr10:38645800-38660000	Weak transcription	Esophagus	oesophagus
40	chr10:38645800-38660000	Weak transcription	Gastric	stomach
41	chr10:38645800-38660000	Weak transcription	Pancreas	Pancrea
42	chr10:38645800-38661000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:38645800-38662200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:38645800-38662400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr10:38645800-38669000	Weak transcription	Colon Smooth Muscle	Colon
46	chr10:38646000-38646400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr10:38646000-38646400	Enhancers	Primary B cells from cord blood	blood
48	chr10:38646000-38646800	Enhancers	Primary B cells from peripheral blood	blood
49	chr10:38646000-38646800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:38646000-38646800	Flanking Active TSS	Dnd41	blood

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