Variant report

Variant	rs763386
Chromosome Location	chr7:107196723-107196724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107181589..107184372-chr7:107196646..107198393,3	K562	blood:
2	chr7:107181589..107184372-chr7:107196670..107198393,2	K562	blood:
3	chr7:107195231..107197923-chr7:107218574..107220615,2	K562	blood:
4	chr7:107190231..107193854-chr7:107195666..107198677,4	K562	blood:

Variant related genes	Relation type
ENSG00000075790	Chromatin interaction
ENSG00000272854	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10464499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10464620	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10953541	0.94[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes]
rs11532774	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11766131	0.84[ASN][1000 genomes]
rs11770061	0.84[ASN][1000 genomes]
rs12056231	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12533694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12534124	0.89[ASN][1000 genomes]
rs12535038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12535761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12539895	0.88[ASN][1000 genomes]
rs13234124	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17403088	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17404067	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17481621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17481842	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17482494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17482543	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1978085	0.89[ASN][1000 genomes]
rs2283041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299428	0.90[ASN][1000 genomes]
rs2395880	0.84[ASN][1000 genomes]
rs2395881	0.84[ASN][1000 genomes]
rs34084719	0.89[ASN][1000 genomes]
rs34523267	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3779497	0.85[ASN][1000 genomes]
rs4515482	0.84[ASN][1000 genomes]
rs4727683	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4730248	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4730250	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56949084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6943051	0.81[MEX][hapmap];1.00[MKK][hapmap]
rs6945784	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6947674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6955488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6958969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6964395	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6976759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6979198	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6979368	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7784906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7785085	0.91[AMR][1000 genomes]
rs7785962	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes]
rs7797791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7801317	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7807154	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8180747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs763386	GPR22	Cis_1M	lymphoblastoid	RTeQTL
rs763386	PRKAR2B	cis	cerebellum	SCAN
rs763386	HBP1	cis	cerebellum	SCAN
rs763386	NRCAM	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107162200-107203400	Weak transcription	Fetal Kidney	kidney
2	chr7:107170200-107203600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:107172800-107200200	Weak transcription	Psoas Muscle	Psoas
4	chr7:107179400-107203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:107183200-107198800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:107185000-107200200	Weak transcription	Pancreas	Pancrea
7	chr7:107185000-107203600	Weak transcription	Gastric	stomach
8	chr7:107185200-107199800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:107185200-107203600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:107185200-107203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:107186000-107200000	Weak transcription	Stomach Mucosa	stomach
12	chr7:107186000-107200200	Weak transcription	NHLF	lung
13	chr7:107186000-107203000	Weak transcription	Brain Germinal Matrix	brain
14	chr7:107186000-107203600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:107186200-107197200	Weak transcription	Lung	lung
16	chr7:107186200-107199800	Weak transcription	Small Intestine	intestine
17	chr7:107186200-107200000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:107186200-107203600	Weak transcription	Esophagus	oesophagus
19	chr7:107186200-107203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:107186400-107200000	Weak transcription	Fetal Heart	heart
21	chr7:107186600-107198800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:107186800-107196800	Weak transcription	HepG2	liver
23	chr7:107186800-107197600	Weak transcription	Fetal Lung	lung
24	chr7:107186800-107203000	Weak transcription	A549	lung
25	chr7:107186800-107203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:107187400-107203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:107188000-107198400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:107188000-107202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:107188000-107203800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:107188600-107199800	Weak transcription	Hela-S3	cervix
31	chr7:107190000-107203400	Weak transcription	Fetal Brain Male	brain
32	chr7:107192000-107197800	Strong transcription	Primary B cells from cord blood	blood
33	chr7:107192000-107198000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:107192000-107198200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:107192000-107198600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:107192200-107196800	Weak transcription	Fetal Intestine Small	intestine
37	chr7:107192200-107198400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:107192200-107198600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:107192200-107198800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:107192200-107198800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:107192400-107198400	Strong transcription	K562	blood
42	chr7:107192400-107200200	Weak transcription	Right Atrium	heart
43	chr7:107193000-107197800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:107193000-107198000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:107193000-107198200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:107193000-107198200	Strong transcription	Liver	Liver
47	chr7:107193000-107198200	Strong transcription	HUVEC	blood vessel
48	chr7:107193000-107198200	Strong transcription	NH-A	brain
49	chr7:107193000-107198400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:107193000-107198400	Strong transcription	Rectal Mucosa Donor 31	rectum

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