Variant report

Variant	rs921055
Chromosome Location	chr2:233697337-233697338
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr2:233697252-233697384	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GIGYF2	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10210953	0.88[EUR][1000 genomes]
rs1078323	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933406	0.92[CEU][hapmap]
rs1104764	0.88[CEU][hapmap]
rs11688166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11689851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12105766	0.92[CEU][hapmap];0.87[TSI][hapmap]
rs12619195	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12993791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001052	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13008436	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13009957	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13021823	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1446309	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1973675	0.92[CEU][hapmap];0.87[TSI][hapmap]
rs2289911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2344611	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2344613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2592104	0.86[EUR][1000 genomes]
rs283465	0.91[EUR][1000 genomes]
rs283467	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs283470	0.92[CEU][hapmap]
rs283487	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34707169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35491427	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144795	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4144797	0.81[EUR][1000 genomes]
rs4973563	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4973564	0.88[CEU][hapmap]
rs4973569	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs62193271	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6704763	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs6716488	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6717048	0.92[CEU][hapmap]
rs6733495	0.92[CEU][hapmap]
rs737027	0.92[CEU][hapmap]
rs7560115	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs778341	1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs778371	0.82[ASN][1000 genomes]
rs974321	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs921055	IQCA1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:233669400-233703600	Strong transcription	Liver	Liver
5	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:233670200-233702600	Strong transcription	HepG2	liver
8	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
10	chr2:233678200-233698200	Weak transcription	Stomach Mucosa	stomach
11	chr2:233680600-233698600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:233681600-233702400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:233681800-233702200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:233684400-233702400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:233686200-233697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:233687000-233700400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:233687600-233702400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:233687800-233701600	Strong transcription	Fetal Thymus	thymus
19	chr2:233688000-233702400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:233688600-233701600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:233689000-233713000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:233689200-233698600	Weak transcription	Pancreas	Pancrea
23	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:233689600-233697400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:233689800-233698200	Weak transcription	Fetal Heart	heart
26	chr2:233690200-233699800	Weak transcription	Hela-S3	cervix
27	chr2:233690400-233698200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:233690400-233698200	Weak transcription	Psoas Muscle	Psoas
29	chr2:233690800-233698000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:233691200-233717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:233691600-233699200	Strong transcription	Fetal Stomach	stomach
32	chr2:233692000-233702600	Strong transcription	Primary T cells from cord blood	blood
33	chr2:233692800-233702000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:233693000-233702000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:233693200-233700400	Strong transcription	Dnd41	blood
36	chr2:233693200-233700400	Strong transcription	Osteobl	bone
37	chr2:233693200-233700600	Strong transcription	Brain Germinal Matrix	brain
38	chr2:233693800-233701800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:233693800-233702600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:233693800-233702600	Strong transcription	Placenta	Placenta
41	chr2:233694000-233700800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:233694000-233701800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:233694200-233698600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:233694200-233699600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:233694200-233699800	Strong transcription	HUVEC	blood vessel
46	chr2:233694200-233700400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:233694200-233700800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:233694200-233700800	Strong transcription	NH-A	brain
49	chr2:233694200-233701600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:233694200-233702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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