Variant report

Variant	rs7182753
Chromosome Location	chr15:43109385-43109386
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	chr15:43102804..43105292-chr15:43108115..43111090,2	K562	blood:
2	chr15:43108724..43111695-chr15:43120505..43122861,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1197533	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1206698	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]
rs12102055	1.00[YRI][hapmap]
rs12437637	1.00[CEU][hapmap]
rs12593576	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594483	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12594855	1.00[YRI][hapmap]
rs12594951	0.87[ASW][hapmap]
rs12904179	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12906497	1.00[YRI][hapmap]
rs12917018	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs12917189	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs13329073	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs16957091	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs1995939	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs2277532	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs2280048	1.00[YRI][hapmap]
rs2412741	1.00[YRI][hapmap]
rs2682074	0.82[EUR][1000 genomes]
rs28407836	1.00[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs28646262	0.83[EUR][1000 genomes]
rs28715020	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28805017	0.80[EUR][1000 genomes]
rs28890597	0.82[EUR][1000 genomes]
rs3199486	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs3742987	1.00[YRI][hapmap]
rs3742988	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap]
rs4923952	0.80[EUR][1000 genomes]
rs4924690	1.00[YRI][hapmap]
rs4994112	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs56114844	0.83[EUR][1000 genomes]
rs58745709	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493060	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6493061	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6493067	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493068	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs6493069	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7165888	0.83[EUR][1000 genomes]
rs7166373	1.00[YRI][hapmap]
rs7166775	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7167802	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7168141	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7169009	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7169202	1.00[YRI][hapmap]
rs7173097	1.00[CEU][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs7173782	0.94[EUR][1000 genomes]
rs7174041	1.00[YRI][hapmap]
rs731984	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs8027427	1.00[YRI][hapmap]
rs8028731	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs8030587	1.00[ASW][hapmap]
rs8034447	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs8035752	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8036096	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs8037374	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8043472	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap]
rs9806175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	esv3334100	chr15:43107010-43109508	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3371150	chr15:43107085-43109633	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7182753	ADAL	cis	Artery Tibial	GTEx
rs7182753	TGM5	cis	lymphoblastoid	seeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43053600-43112200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:43056800-43116800	Weak transcription	HepG2	liver
4	chr15:43060800-43122200	Weak transcription	GM12878-XiMat	blood
5	chr15:43063400-43136200	Weak transcription	Psoas Muscle	Psoas
6	chr15:43064000-43114200	Weak transcription	Fetal Kidney	kidney
7	chr15:43064800-43150800	Weak transcription	HSMM	muscle
8	chr15:43067400-43147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:43075200-43143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:43075400-43135800	Weak transcription	HSMMtube	muscle
11	chr15:43075600-43150800	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:43075800-43117200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:43075800-43119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:43075800-43124800	Weak transcription	Hela-S3	cervix
15	chr15:43075800-43134800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr15:43075800-43159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:43089600-43118400	Weak transcription	HMEC	breast
18	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:43091800-43135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:43093000-43111800	Weak transcription	Fetal Heart	heart
21	chr15:43093000-43124600	Weak transcription	Small Intestine	intestine
22	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:43094600-43111400	Weak transcription	Pancreas	Pancrea
26	chr15:43094600-43115800	Weak transcription	Colonic Mucosa	Colon
27	chr15:43094600-43150800	Weak transcription	Aorta	Aorta
28	chr15:43094800-43112400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:43094800-43124800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:43095000-43119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
32	chr15:43095200-43118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:43095200-43120000	Weak transcription	Fetal Thymus	thymus
34	chr15:43095200-43130600	Weak transcription	Thymus	Thymus
35	chr15:43095600-43118400	Weak transcription	NHEK	skin
36	chr15:43095600-43124600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr15:43095600-43136000	Weak transcription	Fetal Brain Female	brain
38	chr15:43095800-43130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:43095800-43130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:43095800-43139000	Weak transcription	Esophagus	oesophagus
41	chr15:43096000-43130600	Weak transcription	Ovary	ovary
42	chr15:43096000-43133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:43096000-43135600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:43096000-43136000	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:43096200-43119000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:43096200-43121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:43096200-43136000	Weak transcription	Lung	lung
48	chr15:43097200-43131200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:43102800-43118000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:43102800-43119000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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