Variant report

Variant	rs8031767
Chromosome Location	chr15:43210905-43210906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43029256..43031403-chr15:43210732..43214178,4	K562	blood:

Variant related genes	Relation type
ENSG00000140326	Chromatin interaction
ENSG00000246283	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1037990	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10467975	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[YRI][hapmap]
rs11070380	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap]
rs11070382	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070386	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11070387	0.80[EUR][1000 genomes]
rs11630595	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11853250	0.93[ASW][hapmap];0.88[CEU][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.86[YRI][hapmap]
rs12050596	0.82[EUR][1000 genomes]
rs12441352	0.87[EUR][1000 genomes]
rs12592573	0.93[ASW][hapmap];0.81[YRI][hapmap]
rs12594600	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs12594765	0.93[ASW][hapmap];0.81[YRI][hapmap]
rs12913617	0.80[EUR][1000 genomes]
rs1381856	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1462856	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes]
rs16957165	0.81[ASW][hapmap];1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.81[YRI][hapmap]
rs16957167	1.00[CEU][hapmap]
rs16957244	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16957250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16957264	0.88[CEU][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16957385	0.80[EUR][1000 genomes]
rs1972447	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1993813	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2035170	0.80[EUR][1000 genomes]
rs2054389	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126602	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2412746	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2412747	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2412752	0.83[MEX][hapmap]
rs2682073	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2733224	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28585036	1.00[CEU][hapmap];0.86[GIH][hapmap]
rs2899069	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3736054	0.93[ASW][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap]
rs3784265	0.80[EUR][1000 genomes]
rs3803341	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4244590	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4338775	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4509988	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4573908	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4923955	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4924701	0.86[EUR][1000 genomes]
rs4924704	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs55805543	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60763334	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6416436	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493065	0.93[ASW][hapmap];0.86[GIH][hapmap];0.86[LWK][hapmap];0.85[YRI][hapmap]
rs6493071	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6493074	0.86[AMR][1000 genomes]
rs6493076	0.93[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs6493077	1.00[CEU][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes]
rs66530524	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7162939	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7162959	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7174028	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7178567	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7181238	0.93[ASW][hapmap];0.81[YRI][hapmap]
rs8027733	1.00[CEU][hapmap];1.00[MEX][hapmap];0.80[EUR][1000 genomes]
rs8033336	0.93[ASW][hapmap];0.81[YRI][hapmap]
rs8037022	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8042481	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9920498	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9920562	0.86[ASW][hapmap];0.81[YRI][hapmap]
rs9920904	0.80[EUR][1000 genomes]
rs9920935	0.86[ASW][hapmap];0.86[LWK][hapmap];0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8031767	TTBK2	cis	parietal	SCAN
rs8031767	ELL3	cis	lymphoblastoid	seeQTL
rs8031767	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43183200-43211600	Weak transcription	Left Ventricle	heart
2	chr15:43187000-43211600	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:43189200-43211600	Weak transcription	Fetal Intestine Small	intestine
4	chr15:43196000-43211600	Weak transcription	Small Intestine	intestine
5	chr15:43196200-43211400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:43196400-43211600	Weak transcription	Right Atrium	heart
7	chr15:43196400-43211600	Weak transcription	Right Ventricle	heart
8	chr15:43196600-43211800	Weak transcription	Fetal Stomach	stomach
9	chr15:43201000-43211600	Weak transcription	Aorta	Aorta
10	chr15:43202200-43211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:43203800-43211600	Weak transcription	Placenta	Placenta
12	chr15:43203800-43211600	Weak transcription	Spleen	Spleen
13	chr15:43204200-43211400	Weak transcription	Fetal Heart	heart
14	chr15:43207600-43211200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:43207600-43211200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:43207600-43211200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:43207600-43211400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:43207600-43211400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:43207600-43211400	Weak transcription	Brain Anterior Caudate	brain
20	chr15:43207600-43211400	Weak transcription	Fetal Kidney	kidney
21	chr15:43207600-43211600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:43207600-43211600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:43207600-43211600	Weak transcription	Fetal Thymus	thymus
24	chr15:43207600-43211600	Weak transcription	Thymus	Thymus
25	chr15:43207600-43211600	Weak transcription	HSMM	muscle
26	chr15:43207600-43212000	Weak transcription	Ovary	ovary
27	chr15:43207800-43211200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr15:43207800-43211400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:43207800-43211400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:43207800-43211400	Weak transcription	Osteobl	bone
31	chr15:43207800-43211600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:43207800-43211600	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:43208000-43211400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:43208000-43211400	Weak transcription	Liver	Liver
35	chr15:43208000-43211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:43208000-43211600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr15:43208000-43211600	Weak transcription	Brain Substantia Nigra	brain
38	chr15:43208200-43211200	Weak transcription	Primary B cells from cord blood	blood
39	chr15:43208200-43211600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:43208200-43212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:43208800-43211600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr15:43208800-43211800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:43209000-43211600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:43209200-43211200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:43209200-43211600	Enhancers	Hela-S3	cervix
46	chr15:43209200-43211800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr15:43209400-43211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:43209600-43211200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr15:43209800-43211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:43210000-43211600	Enhancers	Primary T helper cells PMA-I stimulated	--

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