Variant report

Variant	rs10838532
Chromosome Location	chr11:45947464-45947465
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45944749..45946540-chr11:45946715..45948340,2	K562	blood:

Variant related genes	Relation type
ENSG00000165905	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11038708	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs11038742	0.81[CHD][hapmap];0.83[MKK][hapmap]
rs55644523	0.82[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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Axial length	24144296	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10838532	ACCS	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45941200-45953400	Weak transcription	Dnd41	blood
2	chr11:45944800-45951800	Weak transcription	Aorta	Aorta
3	chr11:45944800-45955200	Weak transcription	Ovary	ovary
4	chr11:45945000-45953200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:45945200-45947600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:45945200-45947600	Weak transcription	Lung	lung
7	chr11:45945200-45947800	Weak transcription	Gastric	stomach
8	chr11:45945200-45948600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:45945200-45948600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:45945200-45948600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:45945200-45948600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:45945200-45948800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:45945200-45949000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:45945200-45949400	Weak transcription	HMEC	breast
15	chr11:45945200-45950800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:45945200-45951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:45945200-45952600	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:45945200-45953000	Weak transcription	Brain Anterior Caudate	brain
19	chr11:45945200-45953200	Weak transcription	Liver	Liver
20	chr11:45945200-45954400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:45945200-45955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:45945200-45955200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:45945200-45969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:45945400-45948400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:45945400-45950400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:45946000-45950800	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr11:45946000-45951400	Weak transcription	K562	blood
28	chr11:45946200-45947600	Weak transcription	Fetal Intestine Small	intestine
29	chr11:45946200-45950400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:45946200-45950600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:45946200-45950800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr11:45946200-45950800	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr11:45946400-45947600	Weak transcription	Pancreas	Pancrea
34	chr11:45946400-45947800	Weak transcription	Esophagus	oesophagus
35	chr11:45946400-45953000	Weak transcription	Right Atrium	heart
36	chr11:45946600-45947600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:45946600-45947600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:45946600-45948000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:45946600-45949400	Strong transcription	NHEK	skin
40	chr11:45946600-45950000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:45946600-45952200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:45946800-45947800	Weak transcription	Primary B cells from cord blood	blood
43	chr11:45946800-45952200	Weak transcription	Fetal Brain Female	brain
44	chr11:45947000-45947600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:45947000-45948800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:45947000-45951600	Weak transcription	Brain Germinal Matrix	brain
47	chr11:45947200-45950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:45947400-45947800	Bivalent Enhancer	Placenta	Placenta
49	chr11:45947400-45948000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:45947400-45950400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links