Variant report

Variant	rs1037590
Chromosome Location	chr17:33902635-33902636
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:33902238-33903580	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr17:33902614-33904022	GM12878	blood:	n/a	n/a
3	BCL3	chr17:33902577-33903423	A549	lung:	n/a	n/a
4	POLR2A	chr17:33902508-33903361	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr17:33902561-33903242	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:33901409-33907583	K562	blood:	n/a	n/a
7	POLR2A	chr17:33902306-33906596	K562	blood:	n/a	n/a
8	POLR2A	chr17:33901875-33906561	K562	blood:	n/a	n/a
9	POLR2A	chr17:33902605-33903189	GM12892	blood:	n/a	n/a
10	POLR2A	chr17:33902628-33903306	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr17:33902481-33903150	K562	blood:	n/a	n/a
12	POLR2A	chr17:33902526-33906230	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr17:33902450-33903134	HepG2	liver:	n/a	n/a
14	POLR2A	chr17:33902179-33903451	K562	blood:	n/a	n/a
15	POLR2A	chr17:33902528-33902940	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr17:33901538-33907315	K562	blood:	n/a	n/a
17	POLR2A	chr17:33902352-33903441	PANC-1	pancreas:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:33893761..33897248-chr17:33899377..33902990,5	MCF-7	breast:
2	chr17:33467495..33469178-chr17:33902506..33904916,2	K562	blood:
3	chr17:33467478..33469178-chr17:33902075..33904916,3	K562	blood:

No data

Variant related genes	Relation type
AP2B1	TF binding region
ENSG00000267321	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1001441	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10068	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1037592	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10512472	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1071965	0.85[CHB][hapmap]
rs11080357	0.80[ASN][1000 genomes]
rs11653310	0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs11653357	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11655803	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11868206	0.82[ASN][1000 genomes]
rs12452797	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs12604067	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12947592	0.84[ASN][1000 genomes]
rs12948669	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971217	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16971227	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17637907	0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs1968578	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225247	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs225251	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs225254	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs225262	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs225277	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs225306	0.80[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs2840044	0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2889311	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237539	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7212704	0.82[ASN][1000 genomes]
rs7503168	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9890191	0.84[ASN][1000 genomes]
rs9891574	0.83[ASN][1000 genomes]
rs9894057	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9897552	0.85[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.83[ASN][1000 genomes]
rs9899860	0.85[ASN][1000 genomes]
rs9899927	0.85[ASN][1000 genomes]
rs9900378	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs9902765	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9907772	0.82[ASN][1000 genomes]
rs9913875	0.85[ASN][1000 genomes]

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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1037590	AP2B1	cis	cerebellum	SCAN
rs1037590	PEX12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33895800-33904200	Weak transcription	Right Atrium	heart
2	chr17:33895800-33904800	Weak transcription	Ovary	ovary
3	chr17:33896000-33903800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:33896000-33904800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:33896200-33905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:33896200-33905000	Weak transcription	Aorta	Aorta
7	chr17:33896400-33904000	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:33896400-33904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:33896400-33904200	Weak transcription	Psoas Muscle	Psoas
10	chr17:33896400-33904600	Weak transcription	Stomach Mucosa	stomach
11	chr17:33896400-33904800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:33896400-33904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:33896400-33904800	Weak transcription	Colonic Mucosa	Colon
14	chr17:33896400-33904800	Weak transcription	Esophagus	oesophagus
15	chr17:33896400-33904800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:33896400-33904800	Weak transcription	Right Ventricle	heart
17	chr17:33896400-33905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:33896400-33905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:33896600-33904400	Weak transcription	Brain Substantia Nigra	brain
20	chr17:33896800-33903600	Weak transcription	NH-A	brain
21	chr17:33896800-33904000	Weak transcription	Pancreas	Pancrea
22	chr17:33896800-33904000	Weak transcription	Osteobl	bone
23	chr17:33896800-33904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr17:33897000-33902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:33897000-33904400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:33897400-33904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:33897600-33902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:33897600-33902800	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:33897600-33904400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:33897600-33904400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:33897600-33904400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:33897600-33904400	Weak transcription	Fetal Brain Male	brain
33	chr17:33897600-33904400	Weak transcription	HUVEC	blood vessel
34	chr17:33897600-33904600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:33897600-33904600	Weak transcription	Fetal Kidney	kidney
36	chr17:33897600-33905000	Weak transcription	Gastric	stomach
37	chr17:33897600-33905000	Weak transcription	Small Intestine	intestine
38	chr17:33897600-33905200	Weak transcription	Spleen	Spleen
39	chr17:33897800-33903600	Weak transcription	Hela-S3	cervix
40	chr17:33897800-33903600	Weak transcription	HepG2	liver
41	chr17:33897800-33904600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr17:33898200-33902800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr17:33898200-33904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:33898400-33902800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr17:33898400-33903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr17:33898400-33904000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr17:33898400-33904200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:33898600-33903600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr17:33898600-33904000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:33898600-33905000	Weak transcription	Lung	lung

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