Variant report

Variant	rs13313780
Chromosome Location	chr2:174065501-174065502
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174063090..174066387-chr2:174067458..174070599,4	K562	blood:
2	chr2:174060729..174063071-chr2:174065159..174066981,2	K562	blood:
3	chr2:174064115..174068320-chr2:174070790..174075190,5	K562	blood:
4	chr2:174059743..174062229-chr2:174064774..174066981,2	K562	blood:

Variant related genes	Relation type
ENSG00000238133	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10181133	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10182247	0.91[ASN][1000 genomes]
rs10198981	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10497401	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11897681	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13034748	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13035366	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13385996	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13430550	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13430650	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371573	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16861404	0.91[ASN][1000 genomes]
rs1866633	0.80[AFR][1000 genomes]
rs1866634	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2358087	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754740	0.94[ASN][1000 genomes]
rs3769165	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3769174	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3769177	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4972535	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7566372	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13313780	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
6	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
9	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
10	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
11	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
13	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:174053400-174078400	Weak transcription	Gastric	stomach
15	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
17	chr2:174056600-174065600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
19	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
20	chr2:174059000-174075000	Weak transcription	NHLF	lung
21	chr2:174060000-174075200	Weak transcription	Fetal Kidney	kidney
22	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
23	chr2:174060600-174066600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:174061000-174065800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
26	chr2:174061200-174097600	Weak transcription	Lung	lung
27	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
28	chr2:174061600-174070200	Weak transcription	Brain Germinal Matrix	brain
29	chr2:174061600-174074600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:174061800-174072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:174061800-174075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:174062000-174071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:174062600-174069400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:174063000-174065600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:174063200-174074400	Weak transcription	Psoas Muscle	Psoas
40	chr2:174063600-174065800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:174063600-174067400	Weak transcription	Ovary	ovary
42	chr2:174063600-174074400	Weak transcription	Left Ventricle	heart
43	chr2:174063600-174075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:174063600-174097600	Weak transcription	HSMM	muscle
45	chr2:174063800-174066600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:174063800-174066600	Weak transcription	A549	lung
47	chr2:174063800-174067800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:174063800-174068600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:174063800-174069000	Weak transcription	Fetal Heart	heart
50	chr2:174063800-174069000	Weak transcription	NHEK	skin

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