Variant report

Variant	rs34972496
Chromosome Location	chr11:10476023-10476024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:10475959-10478519	K562	blood:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10477854-10477864 chr11:10476624-10476634 chr11:10478179-10478190 chr11:10477748-10477762
2	POLR2A	chr11:10475934-10478530	K562	blood:	n/a	n/a
3	HEY1	chr11:10475941-10476921	K562	blood:	n/a	n/a
4	NR2F2	chr11:10475949-10476998	K562	blood:	n/a	n/a
5	POLR2A	chr11:10475962-10478174	U87	brain:	n/a	n/a
6	RCOR1	chr11:10475631-10478499	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:10475962-10478168	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:10476023-10476073	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:10476023-10476073	AG09319	gingival:	n/a
3	chr11:10476023-10476073	SK-N-MC	brain:	n/a
4	chr11:10476023-10476073	RPTEC	kidney:	n/a
5	chr11:10476023-10476073	GM12878	blood:	n/a
6	chr11:10476023-10476073	CMK	blood:	n/a
7	chr11:10476023-10476073	ECC-1	luminal epithelium:	n/a
8	chr11:10476023-10476073	HRE	kidney:	n/a
9	chr11:10476023-10476073	HRCEpiC	kidney:	n/a
10	chr11:10476023-10476073	Jurkat	blood:	n/a
11	chr11:10476023-10476073	NB4	blood:	n/a
12	chr11:10476023-10476073	HIPEpiC	eye:	n/a
13	chr11:10476023-10476073	NH-A	brain:	n/a
14	chr11:10476023-10476073	ovcar-3	ovarian:	n/a
15	chr11:10476023-10476073	HL-60	blood:	n/a
16	chr11:10476023-10476073	HCPEpiC	choroid plexus:	n/a
17	chr11:10476023-10476073	LNCaP	prostate:	n/a
18	chr11:10476023-10476073	PFSK-1	brain:	n/a
19	chr11:10476023-10476073	SK-N-SH_RA	brain:	n/a
20	chr11:10476023-10476073	BJ	skin:	n/a
21	chr11:10476023-10476073	AG04449	skin:	fetal
22	chr11:10476023-10476073	HNPCEpiC	eye:	n/a
23	chr11:10476023-10476073	SAEC	small airway:	n/a
24	chr11:10476023-10476073	HepG2	liver:	n/a
25	chr11:10476023-10476073	HEEpiC	esophagus:	n/a
26	chr11:10476023-10476073	HMEC	breast:	n/a
27	chr11:10476023-10476073	U87	brain:	n/a
28	chr11:10476023-10476073	PANC-1	pancreas:	n/a
29	chr11:10476023-10476073	NHBE	bronchial:	n/a
30	chr11:10476023-10476073	AG04450	lung:	fetal
31	chr11:10476023-10476073	IMR90	lung:	fetal
32	chr11:10476023-10476073	GM12892	blood:	n/a
33	chr11:10476023-10476073	GM12891	blood:	n/a
34	chr11:10476023-10476073	NT2-D1	testis:	n/a
35	chr11:10476023-10476073	HAEpiC	amniotic membrane:	n/a
36	chr11:10476023-10476073	GM19239	blood:	n/a
37	chr11:10476023-10476073	Hela-S3	cervix:	n/a
38	chr11:10476023-10476073	HRPEpiC	eye:	n/a
39	chr11:10476023-10476073	HCF	heart:	n/a
40	chr11:10476023-10476073	H1-hESC	embryonic stem cell:	embryo
41	chr11:10476023-10476073	K562	blood:	n/a
42	chr11:10476023-10476073	Hepatocyte	liver:	n/a
43	chr11:10476023-10476073	AG10803	skin:	n/a
44	chr11:10476023-10476073	HCT-116	colon:	n/a
45	chr11:10476023-10476073	NHDF-neo	bronchial:	n/a
46	chr11:10476023-10476073	PrEC	prostate:	n/a
47	chr11:10476023-10476073	BE2_C	brain:	n/a
48	chr11:10476023-10476073	SK-N-SH	brain:	n/a
49	chr11:10476023-10476073	HEK293	kidney:	embryo
50	chr11:10476023-10476073	GM06990	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10427808..10432250-chr11:10475440..10478017,5	K562	blood:
2	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:

No data

Variant related genes	Relation type
AMPD3	TF binding region
AMPD3	CpG island
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11042799	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042800	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042806	1.00[AMR][1000 genomes]
rs11042807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11518196	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11522665	0.84[EUR][1000 genomes]
rs12360830	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12363993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12789993	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12802491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12803441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34423417	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34796012	1.00[AFR][1000 genomes]
rs34827892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34947038	1.00[AFR][1000 genomes]
rs35027484	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35526717	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35548473	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61890321	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61890324	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61891364	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473000-10478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10473200-10476400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:10473200-10476800	Weak transcription	Gastric	stomach
4	chr11:10473200-10477000	Weak transcription	Colonic Mucosa	Colon
5	chr11:10473200-10477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:10473200-10477200	Weak transcription	Liver	Liver
7	chr11:10473200-10478000	Enhancers	HMEC	breast
8	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
9	chr11:10473400-10476600	Weak transcription	Placenta	Placenta
10	chr11:10473400-10476600	Weak transcription	Dnd41	blood
11	chr11:10473600-10476400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:10473600-10476600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:10473600-10476600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:10473600-10476600	Enhancers	Brain Angular Gyrus	brain
15	chr11:10473600-10476600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:10473600-10476600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:10473600-10476600	Enhancers	K562	blood
18	chr11:10473600-10476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:10473600-10477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:10473600-10477200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:10473600-10477200	Weak transcription	Right Atrium	heart
22	chr11:10473600-10477400	Weak transcription	Right Ventricle	heart
23	chr11:10473600-10477800	Weak transcription	Lung	lung
24	chr11:10473600-10477800	Weak transcription	Pancreas	Pancrea
25	chr11:10473800-10476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:10473800-10476600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:10473800-10476800	Weak transcription	Esophagus	oesophagus
28	chr11:10474000-10476400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:10474000-10476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:10474200-10476400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:10474200-10476600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:10474200-10476600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:10474200-10476600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:10474400-10476200	Enhancers	NHEK	skin
36	chr11:10474400-10476800	Weak transcription	Small Intestine	intestine
37	chr11:10474400-10477600	Enhancers	Brain Substantia Nigra	brain
38	chr11:10475200-10476200	Enhancers	Brain Hippocampus Middle	brain
39	chr11:10475400-10476600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:10475400-10476800	Enhancers	NHLF	lung
41	chr11:10475400-10477200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:10475400-10477600	Enhancers	Fetal Muscle Leg	muscle
43	chr11:10475600-10476200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:10475600-10476200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr11:10475600-10476400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:10475600-10476400	Enhancers	Brain Anterior Caudate	brain
47	chr11:10475600-10476600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:10475600-10476600	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:10475600-10476600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:10475600-10476600	Enhancers	Psoas Muscle	Psoas

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