Variant report

Variant	rs1206698
Chromosome Location	chr15:43204086-43204087
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	chr15:43197523..43199091-chr15:43202841..43204475,2	K562	blood:
2	chr15:43201061..43205182-chr15:43207494..43209457,4	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11070385	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11070389	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs11631404	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1197533	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12050604	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12437637	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12440652	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12594483	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs12904179	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12913112	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12913134	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap]
rs12913213	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12913586	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12917018	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs12917189	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs13329073	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1381855	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1474200	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs16957091	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs1995939	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs2056346	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AFR][1000 genomes]
rs2126603	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2169581	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2277532	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2682074	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28407836	1.00[CEU][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28646262	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28715020	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28805017	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28890597	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3199486	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs3742988	1.00[ASW][hapmap];0.85[LWK][hapmap]
rs4923952	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4923956	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs4924702	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4994112	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs56114844	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58745709	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62020697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62020699	0.90[AMR][1000 genomes]
rs62020706	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6493067	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493068	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493069	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7165888	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7166775	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs7167802	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.82[ASN][1000 genomes]
rs7168141	0.81[EUR][1000 genomes]
rs7169009	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs7169603	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7173097	1.00[CEU][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7173782	0.82[EUR][1000 genomes]
rs7176915	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7178752	0.86[AMR][1000 genomes]
rs7182753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs731984	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs7496079	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8025479	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8028731	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028822	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8034447	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs8035752	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs8036096	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8037374	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9806175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	esv3408090	chr15:43172709-43207571	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3366604	chr15:43172709-43210677	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3408604	chr15:43175709-43207571	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1206698	ADAL	cis	Artery Tibial	GTEx
rs1206698	TGM5	cis	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43182800-43207000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr15:43183200-43211600	Weak transcription	Left Ventricle	heart
3	chr15:43183800-43207200	Weak transcription	Ovary	ovary
4	chr15:43184200-43207400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:43185600-43207000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:43187000-43207600	Weak transcription	Primary B cells from cord blood	blood
7	chr15:43187000-43211600	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:43187200-43210600	Weak transcription	Primary T cells from cord blood	blood
9	chr15:43187400-43206600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:43189200-43211600	Weak transcription	Fetal Intestine Small	intestine
11	chr15:43196000-43211600	Weak transcription	Small Intestine	intestine
12	chr15:43196200-43205400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:43196200-43206200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr15:43196200-43207000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:43196200-43211400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:43196400-43207000	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:43196400-43207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:43196400-43211600	Weak transcription	Right Atrium	heart
19	chr15:43196400-43211600	Weak transcription	Right Ventricle	heart
20	chr15:43196600-43211800	Weak transcription	Fetal Stomach	stomach
21	chr15:43201000-43211600	Weak transcription	Aorta	Aorta
22	chr15:43201600-43207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:43201600-43210400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:43201800-43207200	Weak transcription	K562	blood
25	chr15:43201800-43210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:43201800-43210400	Weak transcription	NHEK	skin
27	chr15:43202200-43204200	Enhancers	Fetal Heart	heart
28	chr15:43202200-43207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:43202200-43211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:43203200-43206400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:43203200-43207000	Weak transcription	Brain Angular Gyrus	brain
32	chr15:43203400-43204400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:43203400-43207200	Weak transcription	Thymus	Thymus
34	chr15:43203600-43207000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:43203600-43208200	Weak transcription	Psoas Muscle	Psoas
36	chr15:43203800-43204200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:43203800-43207000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:43203800-43207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:43203800-43211600	Weak transcription	Placenta	Placenta
40	chr15:43203800-43211600	Weak transcription	Spleen	Spleen
41	chr15:43204000-43204400	Enhancers	HepG2	liver
42	chr15:43204000-43207000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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