Variant report

Variant	rs6808027
Chromosome Location	chr3:156312295-156312296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156303685..156306639-chr3:156310098..156313241,3	K562	blood:
2	chr3:156312049..156313773-chr3:156391491..156393288,2	MCF-7	breast:
3	chr3:156310983..156312604-chr3:156400142..156402248,2	K562	blood:
4	chr3:156309518..156312337-chr3:156322194..156324346,3	K562	blood:
5	chr3:156311042..156314506-chr3:156315758..156317660,4	K562	blood:

Variant related genes	Relation type
ENSG00000243926	Chromatin interaction
ENSG00000163659	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11718663	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12696038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12696039	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13063385	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13063568	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13063746	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13090418	0.86[CEU][hapmap]
rs13092740	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13096478	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13314546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13317303	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13322475	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401379	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1510274	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16826570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16826572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17367831	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1983205	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1995875	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2089735	0.86[CEU][hapmap]
rs2320894	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2320895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34016978	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34581312	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34667319	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35907778	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62285116	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6441080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6441081	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6650896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6762762	0.86[CEU][hapmap]
rs71310482	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7610493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615297	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7615384	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7618375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7620297	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7633365	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7640295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7640363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7652356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs874641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs874642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs874662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs874663	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9289970	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs931989	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9631440	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812232	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9819659	0.85[CEU][hapmap]
rs9826775	0.92[CEU][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9831507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9832367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9840361	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9840524	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9840533	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9843340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865431	0.93[CEU][hapmap]
rs9869703	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870053	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9870256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9870575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9882596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[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	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	nsv877684	chr3:156294987-156344825	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6808027	OTOL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156307200-156312800	Weak transcription	Pancreas	Pancrea
2	chr3:156311000-156312400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:156311000-156312800	Enhancers	Fetal Kidney	kidney
4	chr3:156311200-156312400	Enhancers	Fetal Lung	lung
5	chr3:156311200-156312600	Enhancers	Liver	Liver
6	chr3:156311200-156312600	Enhancers	Fetal Muscle Leg	muscle
7	chr3:156311200-156313400	Enhancers	K562	blood
8	chr3:156311200-156314200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:156311400-156312600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:156311400-156313000	Enhancers	Fetal Stomach	stomach
11	chr3:156311600-156312400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:156311600-156312400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:156311800-156312400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:156311800-156312400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:156311800-156312400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:156311800-156312400	Enhancers	Fetal Heart	heart
17	chr3:156311800-156312600	Enhancers	Brain Anterior Caudate	brain
18	chr3:156311800-156312600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr3:156311800-156312600	Flanking Active TSS	HepG2	liver
20	chr3:156311800-156314000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:156312000-156312400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:156312000-156312400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:156312000-156312400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:156312000-156312400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:156312000-156312400	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr3:156312000-156312400	Active TSS	Brain Hippocampus Middle	brain
27	chr3:156312000-156312400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr3:156312000-156312400	Active TSS	Fetal Intestine Large	intestine
29	chr3:156312000-156312400	Active TSS	Fetal Intestine Small	intestine
30	chr3:156312000-156312400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr3:156312000-156312400	Active TSS	Ovary	ovary
32	chr3:156312000-156312400	Flanking Active TSS	Psoas Muscle	Psoas
33	chr3:156312000-156312400	Flanking Active TSS	HSMM	muscle
34	chr3:156312000-156312400	Active TSS	NHDF-Ad	bronchial
35	chr3:156312000-156312400	Active TSS	Osteobl	bone
36	chr3:156312000-156312600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:156312000-156312600	Enhancers	HSMMtube	muscle
38	chr3:156312000-156312600	Active TSS	NHLF	lung
39	chr3:156312000-156323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:156312200-156312400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:156312200-156312400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:156312200-156312400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:156312200-156312400	Enhancers	Adipose Nuclei	Adipose
44	chr3:156312200-156312600	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr3:156312200-156312600	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr3:156312200-156312600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr3:156312200-156312600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr3:156312200-156312600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:156312200-156312600	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr3:156312200-156317200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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