Variant report

Variant	rs11195419
Chromosome Location	chr10:112839368-112839369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112837126..112840004-chr10:112842044..112844644,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11195405	0.95[JPT][hapmap]
rs11195417	0.91[ASW][hapmap];0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11815669	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12571756	0.94[JPT][hapmap]
rs17128212	0.83[ASW][hapmap];0.95[JPT][hapmap]
rs17128356	0.83[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1800545	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750625	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs58018669	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7072811	0.95[JPT][hapmap]
rs7073594	0.91[ASW][hapmap];0.95[JPT][hapmap]
rs7073880	0.95[JPT][hapmap]

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	nsv498045	chr10:112794518-113353550	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv825566	chr10:112830014-112871333	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527400	chr10:112833561-112843085	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv896004	chr10:112834763-112842961	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3321787	chr10:112835962-112840760	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv896005	chr10:112835992-112846298	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3377744	chr10:112837487-112840335	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3426722	chr10:112837812-112839710	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11195419	SORCS1	cis	cerebellum	SCAN
rs11195419	SHOC2	cis	lymphoblastoid	seeQTL
rs11195419	XPNPEP1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112835800-112840400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr10:112837000-112839400	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr10:112837200-112839600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:112837600-112839600	Bivalent Enhancer	Placenta	Placenta
5	chr10:112838000-112839600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:112838000-112839600	Transcr. at gene 5' and 3'	Pancreas	Pancrea
7	chr10:112838400-112839400	ZNF genes & repeats	Spleen	Spleen
8	chr10:112838400-112840400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr10:112838400-112847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:112838800-112839400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr10:112838800-112839400	Enhancers	Right Atrium	heart
12	chr10:112838800-112839800	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr10:112838800-112839800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr10:112838800-112839800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr10:112838800-112840200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr10:112839000-112839400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr10:112839000-112839400	Bivalent Enhancer	Fetal Brain Male	brain
18	chr10:112839000-112839400	Bivalent Enhancer	Right Ventricle	heart
19	chr10:112839000-112840200	Flanking Active TSS	Ovary	ovary
20	chr10:112839200-112839400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:112839200-112839400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:112839200-112839400	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr10:112839200-112839400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr10:112839200-112839400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
25	chr10:112839200-112839400	Flanking Active TSS	Gastric	stomach
26	chr10:112839200-112839400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr10:112839200-112839600	Bivalent Enhancer	Small Intestine	intestine
28	chr10:112839200-112840200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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