Variant report

Variant	rs4803320
Chromosome Location	chr19:40743225-40743226
allele	A/G
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	SIN3AK20	chr19:40731136-40743299	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
3	REST	chr19:40740123-40743232	PANC-1	pancreas:	n/a	chr19:40741755-40741768 chr19:40740748-40740756

No.	Distal block	Cell Line	Cell type
1	chr19:40730680..40732953-chr19:40742312..40745155,2	K562	blood:
2	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
3	chr19:40730620..40735723-chr19:40738673..40743679,8	MCF-7	breast:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000105219	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10402740	0.81[JPT][hapmap];0.82[MEX][hapmap]
rs10405207	0.84[AMR][1000 genomes]
rs1129156	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11668242	0.89[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap]
rs11880261	0.82[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12974529	0.83[AMR][1000 genomes]
rs12975651	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2304184	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2304189	0.89[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339526	0.90[CHB][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap]
rs3730050	1.00[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3730051	1.00[ASW][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3746005	0.81[EUR][1000 genomes]
rs4239504	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239506	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4257318	0.90[ASW][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap]
rs4277441	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4332845	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4337402	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4490099	0.90[ASW][hapmap];0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4499338	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4558508	1.00[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802070	0.95[CHB][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4802071	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802073	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4802074	1.00[ASW][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.84[TSI][hapmap]
rs6508936	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7247201	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7249146	0.89[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs7250897	1.00[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7257972	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7260249	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7260517	1.00[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs748236	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8100018	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[ASN][1000 genomes]
rs8102171	0.82[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8104727	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8106744	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8110888	0.89[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs969531	1.00[ASW][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9749283	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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 miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4803320	ZNF221	cis	parietal	SCAN
rs4803320	ZNF221	cis	cerebellum	SCAN
rs4803320	SYMPK	cis	cerebellum	SCAN
rs4803320	ERCC1	cis	parietal	SCAN
rs4803320	C19orf47	cis	lymphoblastoid	seeQTL
rs4803320	TMEM91	cis	parietal	SCAN
rs4803320	SPACA4	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40735600-40757600	Weak transcription	Stomach Mucosa	stomach
3	chr19:40735800-40748200	Weak transcription	Psoas Muscle	Psoas
4	chr19:40737600-40748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:40737600-40749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:40737600-40751200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:40738000-40744200	Strong transcription	Brain Anterior Caudate	brain
8	chr19:40738000-40746600	Strong transcription	Ovary	ovary
9	chr19:40738000-40747000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:40738000-40748600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr19:40738000-40748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:40738000-40749000	Strong transcription	Thymus	Thymus
13	chr19:40738000-40751600	Strong transcription	Dnd41	blood
14	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:40738200-40744000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:40738200-40745000	Weak transcription	HSMM	muscle
17	chr19:40738200-40748200	Strong transcription	Pancreas	Pancrea
18	chr19:40738200-40748600	Strong transcription	NHLF	lung
19	chr19:40738200-40748800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:40738200-40749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:40738200-40756200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:40738400-40745000	Weak transcription	NHDF-Ad	bronchial
23	chr19:40738400-40746800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:40738400-40749400	Strong transcription	Fetal Thymus	thymus
25	chr19:40738400-40749600	Strong transcription	Fetal Brain Female	brain
26	chr19:40738600-40747200	Strong transcription	Brain Cingulate Gyrus	brain
27	chr19:40738600-40747200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:40738600-40747600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:40738600-40747600	Strong transcription	Lung	lung
30	chr19:40738600-40748600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:40738800-40747200	Strong transcription	Brain Hippocampus Middle	brain
32	chr19:40738800-40747600	Weak transcription	Right Atrium	heart
33	chr19:40738800-40748400	Strong transcription	Colonic Mucosa	Colon
34	chr19:40738800-40748600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr19:40738800-40748800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:40738800-40749600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:40738800-40750800	Weak transcription	Fetal Heart	heart
38	chr19:40738800-40758000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr19:40739000-40746400	Strong transcription	Brain Angular Gyrus	brain
40	chr19:40739000-40747400	Strong transcription	Right Ventricle	heart
41	chr19:40739000-40747600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:40739000-40747600	Strong transcription	Brain Germinal Matrix	brain
43	chr19:40739000-40747600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:40739000-40747600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:40739000-40748000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:40739000-40748600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr19:40739000-40748600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:40739000-40748600	Strong transcription	Gastric	stomach
49	chr19:40739000-40749000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:40739000-40749400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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