Variant report

Variant	rs8037022
Chromosome Location	chr15:43257475-43257476
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	chr15:43017657..43020242-chr15:43257370..43259686,2	K562	blood:

Variant related genes	Relation type
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1037990	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10467975	1.00[CEU][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap]
rs11070380	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs11070382	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs11070386	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070387	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070388	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070391	1.00[CEU][hapmap]
rs11630595	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11853250	0.88[CEU][hapmap];0.86[JPT][hapmap]
rs12050596	0.91[EUR][1000 genomes]
rs12899266	1.00[CEU][hapmap]
rs12905967	0.83[EUR][1000 genomes]
rs12913617	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1381856	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1462856	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs16957165	1.00[CEU][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap]
rs16957167	0.84[ASW][hapmap];1.00[CEU][hapmap]
rs16957244	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs16957250	1.00[CEU][hapmap];0.94[MEX][hapmap];0.84[EUR][1000 genomes]
rs16957264	0.88[CEU][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap]
rs16957385	0.85[EUR][1000 genomes]
rs16957422	0.83[YRI][hapmap]
rs1972447	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993813	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996675	0.86[EUR][1000 genomes]
rs2035170	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2037392	0.80[CEU][hapmap]
rs2054389	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2126602	0.91[EUR][1000 genomes]
rs2412746	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412747	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412752	0.95[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap]
rs2682073	1.00[CEU][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs2733224	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28585036	1.00[CEU][hapmap]
rs2899069	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3736054	0.81[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs3784265	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3803341	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244590	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4338775	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509988	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573908	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924701	0.96[EUR][1000 genomes]
rs4924704	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs4924705	0.80[YRI][hapmap]
rs55805543	0.88[EUR][1000 genomes]
rs60763334	0.90[EUR][1000 genomes]
rs6416436	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6493071	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6493076	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs6493077	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66530524	0.90[EUR][1000 genomes]
rs7162939	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7162959	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7174028	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7174915	1.00[CEU][hapmap]
rs7176116	0.84[EUR][1000 genomes]
rs7176957	0.83[YRI][hapmap]
rs7178567	1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8027371	0.80[CEU][hapmap]
rs8027733	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8031767	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8035894	0.82[EUR][1000 genomes]
rs8036710	0.86[EUR][1000 genomes]
rs8042481	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9796571	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9920182	0.80[YRI][hapmap]
rs9920498	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9920904	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
14	nsv1050987	chr15:43237103-43385515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv542369	chr15:43237103-43385515	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3421859	chr15:43249285-43280570	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8037022	TTBK2	cis	parietal	SCAN
rs8037022	CCNDBP1	Cis_1M	lymphoblastoid	RTeQTL
rs8037022	TGM5	cis	lymphoblastoid	seeQTL
rs8037022	CCNDBP1	cis	Lymphoblastoid	GTEx
rs8037022	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43236000-43268400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:43241200-43269800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:43241600-43258600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr15:43241600-43258800	Strong transcription	Placenta	Placenta
6	chr15:43241600-43259200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr15:43241600-43259800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr15:43241600-43261800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:43241600-43271000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:43241600-43271800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:43241800-43257600	Strong transcription	Fetal Brain Female	brain
12	chr15:43241800-43258800	Strong transcription	Adipose Nuclei	Adipose
13	chr15:43241800-43258800	Strong transcription	Fetal Intestine Large	intestine
14	chr15:43241800-43259400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:43241800-43270800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:43242000-43258800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:43242200-43258600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:43242200-43258800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:43242200-43258800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr15:43242200-43259000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:43242200-43259400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:43242200-43270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:43242400-43259000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:43242800-43262600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:43243800-43265000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:43244000-43276400	Weak transcription	Psoas Muscle	Psoas
27	chr15:43244600-43266200	Weak transcription	Gastric	stomach
28	chr15:43247400-43258800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:43247400-43259000	Strong transcription	Liver	Liver
30	chr15:43247600-43258600	Strong transcription	Primary T cells from cord blood	blood
31	chr15:43247600-43258800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:43247600-43260800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:43247800-43258600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:43248000-43320600	Weak transcription	Stomach Mucosa	stomach
35	chr15:43248200-43259400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:43248200-43265000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:43249200-43258600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:43249200-43258600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:43249400-43258600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:43249400-43265000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr15:43249400-43268800	Strong transcription	Fetal Muscle Leg	muscle
42	chr15:43249600-43258800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:43249600-43265000	Weak transcription	A549	lung
44	chr15:43249600-43283200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:43249800-43258600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:43249800-43258600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:43249800-43262600	Weak transcription	Fetal Kidney	kidney
48	chr15:43250000-43261000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:43250000-43264800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:43250200-43258400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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