Variant report

Variant	rs7167802
Chromosome Location	chr15:43116906-43116907
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43112323..43115019-chr15:43115400..43118352,3	K562	blood:
2	chr15:43105622..43108101-chr15:43116852..43119781,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1197533	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1206698	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]
rs12102055	1.00[YRI][hapmap]
rs12437637	0.96[CEU][hapmap]
rs12593576	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	0.91[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	0.96[CEU][hapmap];1.00[JPT][hapmap]
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	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2280048	1.00[YRI][hapmap]
rs2412741	1.00[YRI][hapmap]
rs28407836	0.96[CEU][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs28715020	0.88[ASN][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]
rs4924690	1.00[YRI][hapmap]
rs4994112	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs58745709	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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];0.96[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];0.92[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493068	1.00[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs6493069	0.85[ASN][1000 genomes]
rs7166373	1.00[YRI][hapmap]
rs7166775	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7168141	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7169009	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7169202	1.00[YRI][hapmap]
rs7173097	0.96[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7173782	0.90[EUR][1000 genomes]
rs7174041	1.00[YRI][hapmap]
rs7182753	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]
rs731984	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs8027427	1.00[YRI][hapmap]
rs8028731	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs8030587	1.00[ASW][hapmap]
rs8034447	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs8035752	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8036096	1.00[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs8037374	0.91[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];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.88[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	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
8	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7167802	TGM5	cis	lymphoblastoid	seeQTL
rs7167802	ADAL	cis	Artery Tibial	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:43060800-43122200	Weak transcription	GM12878-XiMat	blood
3	chr15:43063400-43136200	Weak transcription	Psoas Muscle	Psoas
4	chr15:43064800-43150800	Weak transcription	HSMM	muscle
5	chr15:43067400-43147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:43075200-43143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:43075400-43135800	Weak transcription	HSMMtube	muscle
8	chr15:43075600-43150800	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:43075800-43117200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:43075800-43119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:43075800-43124800	Weak transcription	Hela-S3	cervix
12	chr15:43075800-43134800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:43075800-43159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:43089600-43118400	Weak transcription	HMEC	breast
15	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:43091800-43135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:43093000-43124600	Weak transcription	Small Intestine	intestine
18	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:43094400-43118000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:43094600-43150800	Weak transcription	Aorta	Aorta
22	chr15:43094800-43124800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:43095000-43119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
25	chr15:43095200-43118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:43095200-43120000	Weak transcription	Fetal Thymus	thymus
27	chr15:43095200-43130600	Weak transcription	Thymus	Thymus
28	chr15:43095600-43118400	Weak transcription	NHEK	skin
29	chr15:43095600-43124600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:43095600-43136000	Weak transcription	Fetal Brain Female	brain
31	chr15:43095800-43130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:43095800-43130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:43095800-43139000	Weak transcription	Esophagus	oesophagus
34	chr15:43096000-43130600	Weak transcription	Ovary	ovary
35	chr15:43096000-43133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:43096000-43135600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:43096000-43136000	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:43096200-43119000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:43096200-43121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:43096200-43136000	Weak transcription	Lung	lung
41	chr15:43097200-43131200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:43102800-43118000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:43102800-43119000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:43103000-43118000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:43103000-43118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:43103000-43118800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:43103000-43119200	Weak transcription	Brain Angular Gyrus	brain
48	chr15:43103000-43119200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:43103000-43121400	Weak transcription	Brain Anterior Caudate	brain
50	chr15:43103000-43123800	Weak transcription	Right Ventricle	heart

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