Variant report

Variant	rs7042481
Chromosome Location	chr9:97064273-97064274
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97057093..97059981-chr9:97063795..97065484,2	K562	blood:
2	chr9:97052305..97055569-chr9:97062185..97065091,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10821352	0.84[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap]
rs10993127	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs10993144	0.83[ASN][1000 genomes]
rs10993147	0.86[ASN][1000 genomes]
rs10993151	0.86[ASN][1000 genomes]
rs12235970	0.95[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap]
rs12236219	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1328305	0.91[ASN][1000 genomes]
rs16909983	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs16910109	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1752784	0.87[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap]
rs2486632	0.87[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap]
rs2769813	0.86[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs2769816	0.87[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs3118766	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs4744338	0.87[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.84[JPT][hapmap]
rs4744345	0.87[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap]
rs639276	0.87[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap]
rs7024151	0.97[ASN][1000 genomes]
rs7024423	0.95[ASN][1000 genomes]
rs7024915	0.98[ASN][1000 genomes]
rs7027606	0.85[CHB][hapmap]
rs7028040	0.85[CHB][hapmap]
rs7028530	0.97[ASN][1000 genomes]
rs7858082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9299419	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9409515	0.98[ASN][1000 genomes]
rs9409546	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap]
rs9409550	0.87[CEU][hapmap]

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	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7042481	ZNF484	cis	cerebellum	SCAN
rs7042481	HIATL1	cis	lymphoblastoid	seeQTL
rs7042481	HIATL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97032400-97064600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:97039400-97067600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:97040000-97064600	Weak transcription	Brain Germinal Matrix	brain
4	chr9:97041200-97065400	Weak transcription	Small Intestine	intestine
5	chr9:97042600-97068400	Weak transcription	Fetal Brain Female	brain
6	chr9:97042800-97064400	Weak transcription	Hela-S3	cervix
7	chr9:97043200-97064400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:97043800-97066400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:97050800-97064600	Weak transcription	Right Ventricle	heart
10	chr9:97055600-97064400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:97055600-97066600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:97055600-97067800	Weak transcription	HepG2	liver
13	chr9:97055600-97068000	Weak transcription	Pancreas	Pancrea
14	chr9:97055800-97064400	Weak transcription	Lung	lung
15	chr9:97056000-97064600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:97056400-97064400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:97056400-97064600	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:97056800-97064800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:97058400-97064600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:97058800-97065000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr9:97061600-97064600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:97061800-97064600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr9:97062200-97064800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:97062800-97064400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr9:97062800-97064400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:97062800-97066200	Weak transcription	Fetal Brain Male	brain
27	chr9:97063000-97064400	Flanking Active TSS	K562	blood
28	chr9:97063000-97064600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:97063000-97064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:97063000-97064600	Weak transcription	Brain Anterior Caudate	brain
31	chr9:97063000-97064600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:97063000-97064600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr9:97063000-97064600	Weak transcription	Thymus	Thymus
34	chr9:97063000-97064600	Weak transcription	GM12878-XiMat	blood
35	chr9:97063000-97064600	Weak transcription	HSMMtube	muscle
36	chr9:97063000-97065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:97063200-97064400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:97063200-97064600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:97063200-97064600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr9:97063200-97064800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:97063200-97064800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:97063200-97065000	Weak transcription	Fetal Stomach	stomach
43	chr9:97063200-97066000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:97063400-97064600	Weak transcription	Stomach Mucosa	stomach
45	chr9:97063400-97065000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr9:97063400-97065000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:97063400-97065000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr9:97063400-97065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:97063400-97065000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:97063400-97065000	Weak transcription	Left Ventricle	heart

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