Variant report

Variant	rs9907772
Chromosome Location	chr17:34000628-34000629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33996336..33998248-chr17:34000233..34002749,3	K562	blood:
2	chr17:33998247..34000997-chr17:34012546..34014883,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1001441	0.84[JPT][hapmap]
rs10068	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1037590	0.85[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.82[ASN][1000 genomes]
rs1037592	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10512472	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs11653310	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs11653357	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11655803	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11868206	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12452797	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12604067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12947592	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12948669	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1671656	0.81[ASN][1000 genomes]
rs16971217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16971227	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17637907	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs225243	0.81[ASN][1000 genomes]
rs225247	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs225251	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs225254	0.90[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs225259	0.81[ASN][1000 genomes]
rs225262	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs225277	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs225306	0.85[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2840044	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2889311	0.82[ASN][1000 genomes]
rs35237539	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7213476	0.97[ASN][1000 genomes]
rs9890191	0.95[ASN][1000 genomes]
rs9891574	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9897552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9899860	0.94[ASN][1000 genomes]
rs9899927	0.94[ASN][1000 genomes]
rs9900378	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9902765	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9913875	0.94[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
rs9907772	AP2B1	cis	cerebellum	SCAN
rs9907772	PEX12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
8	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr17:33963400-34001200	Weak transcription	Aorta	Aorta
10	chr17:33966000-34002000	Strong transcription	Primary T cells from cord blood	blood
11	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:33969000-34001200	Weak transcription	Right Ventricle	heart
13	chr17:33969400-34001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:33970400-34001200	Weak transcription	Small Intestine	intestine
15	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr17:33977200-34010400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:33978000-34001200	Weak transcription	Brain Angular Gyrus	brain
18	chr17:33979400-34016600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:33981400-34001200	Weak transcription	Pancreas	Pancrea
20	chr17:33982000-34007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:33985400-34001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:33988600-34002400	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr17:33992800-34028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:33993800-34003200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:33994600-34002600	Strong transcription	NH-A	brain
26	chr17:33994600-34004400	Strong transcription	A549	lung
27	chr17:33994800-34002200	Strong transcription	HUVEC	blood vessel
28	chr17:33994800-34003200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr17:33994800-34010600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:33995000-34007000	Weak transcription	Fetal Intestine Small	intestine
31	chr17:33995400-34004200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr17:33995600-34003000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:33995600-34003800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:33995800-34002600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr17:33995800-34002800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr17:33995800-34004000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr17:33995800-34024600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:33996000-34001600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:33996000-34010800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr17:33996400-34002600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:33996400-34003600	Strong transcription	Dnd41	blood
42	chr17:33996400-34004000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:33996400-34005800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:33996600-34001800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr17:33996600-34002800	Strong transcription	K562	blood
46	chr17:33996800-34002000	Strong transcription	Fetal Thymus	thymus
47	chr17:33996800-34002400	Strong transcription	NHDF-Ad	bronchial
48	chr17:33996800-34003800	Strong transcription	Primary B cells from cord blood	blood
49	chr17:33997000-34002200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr17:33997000-34010400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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