Variant report

Variant	rs9644677
Chromosome Location	chr8:9411808-9411809
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	TBL1XR1	chr8:9411741-9411868	K562	blood:	n/a	n/a

Variant related genes	Relation type
TNKS	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10087012	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10087166	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs10088969	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10098758	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10101953	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10102030	0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10103426	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10111980	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]
rs10503380	0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10794712	0.81[CHB][hapmap]
rs10903314	0.81[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap]
rs11249931	0.81[CHB][hapmap]
rs11779335	0.82[GIH][hapmap]
rs11984585	0.91[CHB][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11985349	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993506	0.81[CHB][hapmap]
rs11994420	0.81[CHB][hapmap]
rs11995920	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs12543534	0.94[ASN][1000 genomes]
rs12548306	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12674762	0.81[CHB][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap]
rs12675476	0.81[ASN][1000 genomes]
rs12675893	0.81[CHB][hapmap]
rs12676898	0.81[ASN][1000 genomes]
rs12679892	0.86[CHB][hapmap]
rs12681719	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13271097	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13273033	0.94[MEX][hapmap]
rs17150237	0.82[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28622033	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28668310	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33945943	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34206126	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34324628	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34790717	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4128199	0.82[ASN][1000 genomes]
rs4240626	0.81[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap]
rs4240629	0.81[CHB][hapmap]
rs4398920	0.81[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.89[MEX][hapmap]
rs4407883	0.81[CHB][hapmap]
rs4840427	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs4840428	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4841173	0.81[ASN][1000 genomes]
rs4841174	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs4841175	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841179	0.81[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap]
rs4841197	0.81[CHB][hapmap]
rs57453266	0.83[ASN][1000 genomes]
rs58238328	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61551896	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62493868	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601330	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601331	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601332	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601333	0.86[CHD][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.81[ASN][1000 genomes]
rs6601334	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6601335	0.89[ASN][1000 genomes]
rs6601336	0.81[ASN][1000 genomes]
rs6601337	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66516712	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67706102	0.81[ASN][1000 genomes]
rs6980831	0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986386	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6989126	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6990097	0.95[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6990418	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs6990590	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7004937	0.82[YRI][hapmap]
rs7010270	0.81[CHB][hapmap]
rs7013500	0.84[AMR][1000 genomes]
rs73193784	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7462910	0.82[GIH][hapmap]
rs7814014	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.94[MEX][hapmap];0.81[ASN][1000 genomes]
rs7815817	0.82[ASN][1000 genomes]
rs7821559	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7822548	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs7832096	0.81[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap]
rs7834823	0.82[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7844450	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7846140	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9329202	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9329203	0.91[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.85[TSI][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9650638	0.86[CHB][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	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	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9644677	TNKS	cis	parietal	SCAN
rs9644677	TNKS	cis	cerebellum	SCAN
rs9644677	DEFB134	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9404000-9412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:9404800-9412800	Weak transcription	Right Atrium	heart
3	chr8:9407800-9412200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:9409000-9412200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:9409400-9412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:9409800-9412600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:9410000-9412600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:9410000-9412600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:9410200-9412200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:9410200-9412400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:9410200-9412600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:9410200-9412600	Weak transcription	Osteobl	bone
13	chr8:9410200-9412800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:9410200-9412800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:9410400-9412200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:9410400-9412400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:9410400-9412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:9410400-9412400	Weak transcription	GM12878-XiMat	blood
19	chr8:9410400-9412600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:9410400-9412600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:9410400-9412600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:9410400-9412600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:9410800-9412200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:9411000-9412000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:9411000-9412600	Weak transcription	Adipose Nuclei	Adipose
26	chr8:9411000-9412800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:9411400-9412000	Enhancers	K562	blood
28	chr8:9411600-9412000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:9411600-9412200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:9411600-9412200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:9411800-9412000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:9411800-9412200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:9411800-9412400	Flanking Active TSS	HepG2	liver

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