Variant report

Variant	rs10111980
Chromosome Location	chr8:9418167-9418168
allele	C/T
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	ZNF384	chr8:9417818-9418281	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:9417339..9419648-chr8:9420224..9422895,3	K562	blood:
2	chr8:9413652..9415403-chr8:9416185..9419439,4	MCF-7	breast:
3	chr8:9412654..9416841-chr8:9418051..9421605,6	MCF-7	breast:
4	chr8:9413105..9415000-chr8:9415531..9419993,5	K562	blood:

Variant related genes	Relation type
ENSG00000272267	TF binding region
ENSG00000173273	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10087012	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10087166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10088969	0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10098758	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10101953	0.94[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10102030	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10103426	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10503380	0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10794712	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs10903314	0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs11249931	0.95[CHB][hapmap]
rs11249938	0.94[CEU][hapmap]
rs11249942	0.83[CEU][hapmap]
rs11779335	0.83[CEU][hapmap];0.92[GIH][hapmap]
rs11984585	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11985349	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11993506	0.95[CHB][hapmap]
rs11994420	0.95[CHB][hapmap]
rs11995920	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12541409	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12541617	0.80[CEU][hapmap]
rs12543534	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545912	0.82[CEU][hapmap];0.94[GIH][hapmap]
rs12548306	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674762	0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap]
rs12675476	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12675511	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12675893	0.95[CHB][hapmap]
rs12676898	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12679892	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs12681719	0.94[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13262577	0.85[CHB][hapmap]
rs13271097	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13273033	0.84[ASW][hapmap];0.83[CEU][hapmap];0.94[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap]
rs17150237	0.83[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28622033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28668310	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33945943	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34206126	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34324628	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34790717	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4128199	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4240626	0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs4240629	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs4398920	0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap]
rs4407883	0.95[CHB][hapmap]
rs4535744	0.83[CEU][hapmap]
rs4626603	0.82[CEU][hapmap]
rs4840427	0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[LWK][hapmap];0.86[ASN][1000 genomes]
rs4840428	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841173	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841174	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841175	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4841179	0.95[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs4841197	0.95[CHB][hapmap]
rs4841212	0.83[CEU][hapmap];0.94[GIH][hapmap]
rs57453266	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58238328	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61551896	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62493868	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601330	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601331	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601332	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601333	0.84[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6601334	1.00[CEU][hapmap];0.92[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6601335	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601336	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6601337	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66516712	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67706102	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6980831	0.94[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985140	0.81[GIH][hapmap]
rs6986386	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6989126	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6990097	0.82[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990590	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010270	0.83[CEU][hapmap];0.95[CHB][hapmap]
rs7013500	0.91[EUR][1000 genomes]
rs73193784	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7461376	0.83[CEU][hapmap]
rs7462910	0.83[CEU][hapmap];0.92[GIH][hapmap]
rs7814014	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815817	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7821559	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822548	0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7822904	0.82[CEU][hapmap]
rs7832096	0.83[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs7834823	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7844450	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7846140	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329202	0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9329203	0.84[CEU][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9644677	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9650638	0.83[CEU][hapmap];1.00[CHB][hapmap]

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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10111980	TNKS	cis	cerebellum	SCAN
rs10111980	DEFB134	cis	cerebellum	SCAN
rs10111980	FLJ10661	cis	cerebellum	SCAN
rs10111980	PRSS55	cis	cerebellum	SCAN
rs10111980	TNKS	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9420600	Weak transcription	Esophagus	oesophagus
2	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:9414800-9418800	Weak transcription	Ovary	ovary
4	chr8:9414800-9419200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:9414800-9427800	Weak transcription	Right Ventricle	heart
6	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:9415800-9419200	Active TSS	GM12878-XiMat	blood
8	chr8:9415800-9421600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:9416000-9432400	Weak transcription	Primary B cells from cord blood	blood
11	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:9416200-9419200	Enhancers	Brain Hippocampus Middle	brain
13	chr8:9416200-9420600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:9416200-9432600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:9416200-9434200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:9416400-9420000	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:9416400-9421000	Weak transcription	NH-A	brain
18	chr8:9416400-9424800	Weak transcription	NHEK	skin
19	chr8:9416400-9426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:9416600-9430200	Weak transcription	Brain Substantia Nigra	brain
21	chr8:9416800-9418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:9416800-9419400	Weak transcription	HUVEC	blood vessel
23	chr8:9417000-9418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:9417000-9418600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:9417000-9421600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:9417200-9418200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:9417200-9418400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:9417200-9418600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:9417200-9418600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:9417200-9418600	Weak transcription	Brain Anterior Caudate	brain
32	chr8:9417200-9418800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:9417200-9421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:9417200-9421600	Weak transcription	Liver	Liver
35	chr8:9417200-9421600	Weak transcription	Brain Angular Gyrus	brain
36	chr8:9417200-9425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:9417200-9426600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:9417200-9427800	Weak transcription	Psoas Muscle	Psoas
39	chr8:9417200-9430000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:9417200-9434400	Weak transcription	Primary T cells from cord blood	blood
41	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:9417400-9418400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:9417400-9425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:9417600-9418600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:9417600-9418600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:9417600-9421600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:9417600-9427800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:9417600-9437600	Weak transcription	Dnd41	blood
49	chr8:9418000-9435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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