Variant report

Variant	rs7637801
Chromosome Location	chr3:134370585-134370586
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:134369090-134371560	U87	brain:	n/a	n/a
2	POLR2A	chr3:134369061-134371627	U87	brain:	n/a	n/a
3	POLR2A	chr3:134369067-134371621	U87	brain:	n/a	n/a
4	CTCF	chr3:134370480-134370630	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr3:134370460-134370610	RPTEC	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:134370555-134370605	A549	lung:	n/a
2	chr3:134370555-134370605	BE2_C	brain:	n/a
3	chr3:134370555-134370605	HPAEpiC	pulmonary alveolar:	n/a
4	chr3:134370555-134370605	ProgFib	skin:	n/a
5	chr3:134370555-134370605	AG09309	skin:	n/a
6	chr3:134370555-134370605	HRE	kidney:	n/a
7	chr3:134370555-134370605	SK-N-SH	brain:	n/a
8	chr3:134370555-134370605	SKMC	muscle:	n/a
9	chr3:134370555-134370605	Jurkat	blood:	n/a
10	chr3:134370555-134370605	AG09319	gingival:	n/a
11	chr3:134370555-134370605	H1-hESC	embryonic stem cell:	embryo
12	chr3:134370555-134370605	HEK293	kidney:	embryo
13	chr3:134370555-134370605	IMR90	lung:	fetal
14	chr3:134370555-134370605	LNCaP	prostate:	n/a
15	chr3:134370555-134370605	SK-N-SH_RA	brain:	n/a
16	chr3:134370555-134370605	RPTEC	kidney:	n/a
17	chr3:134370555-134370605	PrEC	prostate:	n/a
18	chr3:134370555-134370605	HL-60	blood:	n/a
19	chr3:134370555-134370605	GM06990	blood:	n/a
20	chr3:134370555-134370605	PANC-1	pancreas:	n/a
21	chr3:134370555-134370605	HRPEpiC	eye:	n/a
22	chr3:134370555-134370605	NHBE	bronchial:	n/a
23	chr3:134370555-134370605	AG04450	lung:	fetal
24	chr3:134370555-134370605	HCF	heart:	n/a
25	chr3:134370555-134370605	HUVEC	blood vessel:	n/a
26	chr3:134370555-134370605	HIPEpiC	eye:	n/a
27	chr3:134370555-134370605	CMK	blood:	n/a
28	chr3:134370555-134370605	GM12892	blood:	n/a
29	chr3:134370555-134370605	PFSK-1	brain:	n/a
30	chr3:134370555-134370605	AoSMC	blood vessel:	n/a
31	chr3:134370555-134370605	HepG2	liver:	n/a
32	chr3:134370555-134370605	GM12878	blood:	n/a
33	chr3:134370555-134370605	NH-A	brain:	n/a
34	chr3:134370555-134370605	NHDF-neo	bronchial:	n/a
35	chr3:134370555-134370605	AG10803	skin:	n/a
36	chr3:134370555-134370605	HMEC	breast:	n/a
37	chr3:134370555-134370605	HEEpiC	esophagus:	n/a
38	chr3:134370555-134370605	SAEC	small airway:	n/a
39	chr3:134370555-134370605	NT2-D1	testis:	n/a
40	chr3:134370555-134370605	U87	brain:	n/a
41	chr3:134370555-134370605	Hepatocyte	liver:	n/a
42	chr3:134370555-134370605	AG04449	skin:	fetal
43	chr3:134370555-134370605	GM19239	blood:	n/a
44	chr3:134370555-134370605	T-47D	breast:	n/a
45	chr3:134370555-134370605	HCPEpiC	choroid plexus:	n/a
46	chr3:134370555-134370605	HAEpiC	amniotic membrane:	n/a
47	chr3:134370555-134370605	ECC-1	luminal epithelium:	n/a
48	chr3:134370555-134370605	GM12891	blood:	n/a
49	chr3:134370555-134370605	HRCEpiC	kidney:	n/a
50	chr3:134370555-134370605	BJ	skin:	n/a

No data

Variant related genes	Relation type
KY	TF binding region
KY	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11720224	0.88[EUR][1000 genomes]
rs13060869	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13089566	0.91[JPT][hapmap]
rs1447691	0.91[ASN][1000 genomes]
rs1823217	0.84[ASN][1000 genomes]
rs1868164	0.94[ASN][1000 genomes]
rs1982353	0.89[ASN][1000 genomes]
rs34136671	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57936237	0.86[EUR][1000 genomes]
rs60716777	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6762606	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6763188	1.00[JPT][hapmap]
rs6775611	0.90[JPT][hapmap]
rs7636265	0.91[ASN][1000 genomes]
rs766492	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9818188	0.89[ASN][1000 genomes]
rs9883955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv3343656	chr3:134368312-134371210	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7637801	ANAPC13	cis	Muscle Skeletal	GTEx
rs7637801	ANAPC13	cis	Esophagus Mucosa	GTEx
rs7637801	ANAPC13	cis	Artery Tibial	GTEx
rs7637801	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs7637801	ANAPC13	cis	Esophagus Muscularis	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134368200-134371200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr3:134368400-134371800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr3:134369000-134370600	Active TSS	Colon Smooth Muscle	Colon
4	chr3:134369000-134370600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:134369000-134370800	Active TSS	Brain Anterior Caudate	brain
6	chr3:134369200-134370600	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:134369200-134370800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr3:134369200-134370800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr3:134369200-134371000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:134369200-134371000	Enhancers	Lung	lung
13	chr3:134369400-134370600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:134369400-134370600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr3:134369400-134370600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
16	chr3:134369400-134370600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:134369400-134370600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr3:134369400-134370600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr3:134369400-134370600	Bivalent Enhancer	Placenta	Placenta
20	chr3:134369400-134370600	Active TSS	Right Atrium	heart
21	chr3:134369400-134370800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:134369400-134370800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:134369400-134370800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:134369400-134370800	Active TSS	Aorta	Aorta
25	chr3:134369600-134370600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr3:134369600-134370600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:134369600-134370600	Flanking Active TSS	Pancreas	Pancrea
28	chr3:134369600-134370600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
29	chr3:134369600-134370800	Enhancers	Fetal Brain Male	brain
30	chr3:134369800-134370600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr3:134369800-134370600	Enhancers	Small Intestine	intestine
32	chr3:134369800-134370600	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr3:134369800-134370800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:134370000-134370600	Enhancers	Primary B cells from peripheral blood	blood
35	chr3:134370000-134370600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:134370000-134370600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:134370000-134370600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr3:134370000-134370600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr3:134370000-134370800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:134370000-134370800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr3:134370000-134370800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:134370000-134370800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr3:134370000-134370800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr3:134370000-134370800	Flanking Active TSS	NH-A	brain
45	chr3:134370000-134371000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:134370000-134371000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:134370200-134370600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:134370200-134370600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr3:134370200-134370600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr3:134370200-134370600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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