Variant report

Variant	rs7356043
Chromosome Location	chr3:121366377-121366378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10934555	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1128154	0.92[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1128158	0.92[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11927625	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1492178	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2070178	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141488	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2331812	0.85[EUR][1000 genomes]
rs3772129	0.95[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3966068	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438644	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6770842	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6804322	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179962	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73179967	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818194	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841861	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9846174	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849087	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9859243	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9873644	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873648	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883663	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968051	0.81[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv3348788	chr3:121364112-121366860	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv3419708	chr3:121364362-121366460	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7356043	GOLGB1	cis	Frontal Cortex	GTEx
rs7356043	HEG1	cis	parietal	SCAN
rs7356043	GOLGB1	cis	Brain Pons	GTEx
rs7356043	IQCB1	cis	parietal	SCAN
rs7356043	GOLGB1	cis	Temporal Cortex	GTEx
rs7356043	IQCB1	cis	cerebellum	SCAN
rs7356043	HCLS1	cis	multi-tissue	Pritchard
rs7356043	GOLGB1	cis	Cerebellum	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121345600-121376800	Weak transcription	Esophagus	oesophagus
2	chr3:121347000-121378000	Weak transcription	Right Ventricle	heart
3	chr3:121347400-121367200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:121348000-121381800	Weak transcription	Aorta	Aorta
5	chr3:121348800-121367200	Weak transcription	Pancreas	Pancrea
6	chr3:121349000-121378000	Weak transcription	Fetal Stomach	stomach
7	chr3:121349400-121367000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:121349800-121367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:121351000-121382800	Weak transcription	Small Intestine	intestine
10	chr3:121351400-121381400	Weak transcription	Gastric	stomach
11	chr3:121351800-121370400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:121353400-121376000	Weak transcription	Lung	lung
13	chr3:121354000-121381000	Weak transcription	Fetal Intestine Small	intestine
14	chr3:121355600-121367000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:121356000-121370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:121356200-121378200	Weak transcription	Colonic Mucosa	Colon
17	chr3:121356800-121379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:121362200-121379400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:121362600-121379600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:121364000-121377000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:121364200-121366800	Weak transcription	Adipose Nuclei	Adipose
22	chr3:121364200-121367200	Weak transcription	Liver	Liver
23	chr3:121364200-121368000	Weak transcription	Left Ventricle	heart
24	chr3:121364200-121373600	Weak transcription	Thymus	Thymus
25	chr3:121364200-121375800	Weak transcription	Spleen	Spleen
26	chr3:121364200-121377000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:121364200-121378200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:121364200-121378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:121364400-121367200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:121364400-121369000	Weak transcription	Fetal Thymus	thymus
31	chr3:121364600-121366800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr3:121364600-121366800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:121364600-121367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:121364600-121367200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:121364600-121367400	Weak transcription	GM12878-XiMat	blood
36	chr3:121364600-121371600	Weak transcription	Placenta	Placenta
37	chr3:121366000-121366400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:121366000-121367200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:121366000-121369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:121366000-121369200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:121366000-121369200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:121366000-121369600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr3:121366000-121369600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:121366000-121370000	Strong transcription	Dnd41	blood
45	chr3:121366000-121372200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:121366000-121372400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr3:121366000-121372400	Strong transcription	Primary T cells from cord blood	blood
48	chr3:121366000-121373400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:121366200-121366400	Enhancers	Psoas Muscle	Psoas
50	chr3:121366200-121366800	Strong transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links