Variant report

Variant	rs10761320
Chromosome Location	chr9:96923966-96923967
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	POLR2A	chr9:96923886-96924536	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96917519..96921263-chr9:96921727..96924790,3	MCF-7	breast:
2	chr9:96901085..96902966-chr9:96921856..96923977,2	K562	blood:
3	chr9:96791533..96793413-chr9:96923327..96926026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269946	TF binding region
ENSG00000158079	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10512230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10739971	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10761323	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10761324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821303	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs10821305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821310	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10821311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10821316	0.85[EUR][1000 genomes]
rs10821317	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs10993072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10993073	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993075	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993095	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993096	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs10993097	0.85[EUR][1000 genomes]
rs10993100	0.85[EUR][1000 genomes]
rs11790972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12004367	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs12551019	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13293512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2039012	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34181781	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36030019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7025395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7030004	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs7865876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7866254	0.82[CHB][hapmap]
rs9409498	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap]
rs9409706	0.96[CEU][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.85[EUR][1000 genomes]
rs9409709	0.96[CEU][hapmap];0.81[CHB][hapmap]
rs9409710	0.96[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10761320	HIATL1	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96904000-96927200	Weak transcription	Thymus	Thymus
2	chr9:96919200-96924000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr9:96919400-96925800	Weak transcription	Spleen	Spleen
4	chr9:96919400-96927600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:96919400-96927800	Weak transcription	Psoas Muscle	Psoas
6	chr9:96919600-96926000	Weak transcription	Primary T cells from cord blood	blood
7	chr9:96919600-96927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:96919600-96927800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:96919800-96927200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:96920000-96927400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:96920000-96927800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:96920000-96927800	Weak transcription	Left Ventricle	heart
13	chr9:96920000-96927800	Weak transcription	Pancreas	Pancrea
14	chr9:96920000-96927800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:96920200-96927600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:96921000-96924200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:96921600-96926000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:96921600-96927600	Weak transcription	Brain Substantia Nigra	brain
19	chr9:96921800-96927800	Weak transcription	HSMM	muscle
20	chr9:96922000-96926000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:96922200-96927400	Weak transcription	Brain Angular Gyrus	brain
22	chr9:96922200-96927600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:96922200-96927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:96922200-96927800	Weak transcription	Brain Hippocampus Middle	brain
25	chr9:96922200-96927800	Weak transcription	Fetal Lung	lung
26	chr9:96922400-96926000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:96922400-96927400	Weak transcription	Fetal Heart	heart
28	chr9:96922400-96927400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:96922400-96927600	Weak transcription	Brain Anterior Caudate	brain
30	chr9:96922400-96927600	Weak transcription	Fetal Kidney	kidney
31	chr9:96922400-96927800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:96922400-96927800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:96922400-96927800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:96922400-96927800	Weak transcription	Placenta	Placenta
35	chr9:96922400-96927800	Weak transcription	NH-A	brain
36	chr9:96922600-96927800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:96922600-96927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:96922800-96924000	Enhancers	K562	blood
39	chr9:96922800-96927800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:96923000-96926000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:96923000-96927600	Weak transcription	Fetal Intestine Large	intestine
42	chr9:96923200-96926000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:96923200-96927000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:96923200-96927200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:96923200-96927600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:96923200-96927600	Weak transcription	A549	lung
47	chr9:96923200-96927800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:96923200-96928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:96923400-96927600	Weak transcription	Fetal Intestine Small	intestine
50	chr9:96923400-96927800	Weak transcription	Fetal Muscle Leg	muscle

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