Variant report

Variant	rs4734607
Chromosome Location	chr8:102991442-102991443
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	chr8:102986615..102988914-chr8:102991157..102993474,2	K562	blood:

Variant related genes	Relation type
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10089091	0.91[CEU][hapmap]
rs10090732	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091084	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102923	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs10105502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505017	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs1119377	0.89[YRI][hapmap]
rs1269711	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs1269712	0.86[EUR][1000 genomes]
rs16868893	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs1992330	1.00[CEU][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs2023268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387331	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28379664	0.81[EUR][1000 genomes]
rs28680363	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34417909	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734049	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734050	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734052	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs4734609	0.91[CEU][hapmap]
rs55837041	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59321812	0.84[EUR][1000 genomes]
rs60389438	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6468805	0.89[YRI][hapmap]
rs6468807	0.89[YRI][hapmap]
rs6468809	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs72679088	0.85[EUR][1000 genomes]
rs7814225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814951	0.91[CEU][hapmap]
rs7818772	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7837198	1.00[CEU][hapmap]
rs9297317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9656850	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs984928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4734607	OTX2	trans	brain	seeQTL
rs4734607	GUCA1C	trans	brain	seeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102976000-102992000	Weak transcription	Right Ventricle	heart
2	chr8:102981000-102992000	Weak transcription	Esophagus	oesophagus
3	chr8:102983600-102992000	Weak transcription	Left Ventricle	heart
4	chr8:102987800-102992000	Weak transcription	Lung	lung
5	chr8:102988600-102992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:102989000-102993400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:102989600-102993200	Enhancers	Ovary	ovary
8	chr8:102989800-102992400	Enhancers	Fetal Brain Male	brain
9	chr8:102989800-102992600	Enhancers	Aorta	Aorta
10	chr8:102989800-102994800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:102990000-102992200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:102990200-102992200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:102990200-102992400	Weak transcription	HMEC	breast
14	chr8:102990200-102992400	Weak transcription	NHEK	skin
15	chr8:102990200-102993000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:102990200-102996000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:102990400-102991600	Weak transcription	NH-A	brain
18	chr8:102990400-102991800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:102990400-102992000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:102990400-102992000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:102990400-102993400	Enhancers	Fetal Heart	heart
22	chr8:102990400-102999400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:102990400-103008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:102990600-102991800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:102990600-102992000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:102990800-102992800	Enhancers	Fetal Muscle Leg	muscle
27	chr8:102990800-102992800	Enhancers	Psoas Muscle	Psoas
28	chr8:102990800-102993200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:102990800-102993200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:102991000-102992000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:102991000-102992800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:102991000-102993600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:102991200-102991600	Enhancers	Fetal Brain Female	brain
34	chr8:102991200-102991600	Enhancers	K562	blood
35	chr8:102991200-102992200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:102991200-102993400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:102991200-102994000	Enhancers	Rectal Smooth Muscle	rectum
38	chr8:102991200-102994400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:102991400-102991600	Enhancers	Colon Smooth Muscle	Colon
40	chr8:102991400-102991600	Enhancers	Placenta	Placenta
41	chr8:102991400-102991600	Enhancers	Spleen	Spleen
42	chr8:102991400-102991800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:102991400-102991800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:102991400-102991800	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:102991400-102991800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:102991400-102992000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:102991400-102992400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:102991400-102992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:102991400-102993200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:102991400-102993200	Enhancers	Placenta Amnion	Placenta Amnion

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