Variant report

Variant	rs767975
Chromosome Location	chr1:45357485-45357486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45285269..45287517-chr1:45356537..45358662,2	K562	blood:
2	chr1:45348967..45351344-chr1:45356459..45358965,2	K562	blood:
3	chr1:45185573..45188435-chr1:45355678..45358866,3	K562	blood:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11573543	0.93[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs17393012	0.83[ASN][1000 genomes]
rs6661667	1.00[CHB][hapmap]
rs6694453	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs767975	KCNQ4	cis	cerebellum	SCAN
rs767975	CTPS	cis	cerebellum	SCAN
rs767975	UROD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
3	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
4	chr1:45334600-45371800	Weak transcription	Gastric	stomach
5	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
6	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
7	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
8	chr1:45346200-45359200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:45346400-45363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:45347600-45358800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:45347600-45360400	Weak transcription	HMEC	breast
12	chr1:45347600-45362600	Weak transcription	Lung	lung
13	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:45348000-45360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:45349600-45358400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:45349600-45360000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:45350600-45360600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:45350600-45361200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:45350800-45363200	Weak transcription	Right Ventricle	heart
20	chr1:45350800-45363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:45350800-45364200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:45350800-45369000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:45350800-45382400	Weak transcription	Pancreas	Pancrea
24	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
25	chr1:45351400-45357800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr1:45351400-45358200	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr1:45351800-45358600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:45352000-45358200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr1:45352200-45357800	ZNF genes & repeats	Dnd41	blood
30	chr1:45352200-45358200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:45352400-45358200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr1:45352600-45357600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:45352600-45360400	Weak transcription	Ovary	ovary
34	chr1:45353000-45357800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:45353000-45374000	Weak transcription	Fetal Heart	heart
36	chr1:45354200-45357600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr1:45354800-45358400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:45354800-45359600	Weak transcription	Osteobl	bone
39	chr1:45354800-45360000	Weak transcription	NHEK	skin
40	chr1:45355200-45366400	Weak transcription	Psoas Muscle	Psoas
41	chr1:45355400-45357600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr1:45355400-45358000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr1:45355600-45357600	Weak transcription	Fetal Thymus	thymus
44	chr1:45355600-45358000	ZNF genes & repeats	K562	blood
45	chr1:45355600-45368200	Weak transcription	Fetal Stomach	stomach
46	chr1:45355800-45360000	Weak transcription	HUVEC	blood vessel
47	chr1:45355800-45363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:45355800-45369000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:45355800-45411200	Weak transcription	Fetal Lung	lung
50	chr1:45356000-45359200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links