Variant report

Variant	rs7166243
Chromosome Location	chr15:31781988-31781989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:31492924..31493816-chr15:31781800..31782800,3	K562	blood:
2	chr15:31729614..31735490-chr15:31778794..31782835,6	MCF-7	breast:
3	chr15:31748477..31753108-chr15:31776889..31783172,7	MCF-7	breast:
4	chr15:31775112..31777688-chr15:31780214..31782887,2	K562	blood:
5	chr15:31780894..31782465-chr15:31785232..31787543,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1075232	0.82[ASN][1000 genomes]
rs11858516	0.98[ASN][1000 genomes]
rs12438318	0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12438482	0.93[ASN][1000 genomes]
rs12440108	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12441163	1.00[ASN][1000 genomes]
rs16956707	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs16956738	0.81[ASN][1000 genomes]
rs16956797	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956801	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956838	0.86[ASN][1000 genomes]
rs56249651	0.84[ASN][1000 genomes]
rs57491435	1.00[ASN][1000 genomes]
rs57924788	0.82[ASN][1000 genomes]
rs58156651	0.82[ASN][1000 genomes]
rs60333545	0.90[ASN][1000 genomes]
rs66581165	0.82[ASN][1000 genomes]
rs67216354	0.84[ASN][1000 genomes]
rs67634762	0.82[ASN][1000 genomes]
rs67699697	0.84[ASN][1000 genomes]
rs72724938	0.82[ASN][1000 genomes]
rs72724958	0.82[ASN][1000 genomes]
rs72724993	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724997	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv903844	chr15:31736091-31781988	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1046271	chr15:31741255-31795961	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv903845	chr15:31751664-31939001	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1811144	chr15:31775602-31791836	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv568824	chr15:31776343-31787108	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7166243	TMEM204	trans	parietal	SCAN
rs7166243	ATP10A	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31777800-31782400	Enhancers	Esophagus	oesophagus
2	chr15:31778000-31782400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:31778000-31782400	Enhancers	Fetal Thymus	thymus
4	chr15:31778400-31782400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:31778400-31782400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:31778800-31782400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr15:31779400-31782400	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:31779600-31782400	Enhancers	Pancreas	Pancrea
9	chr15:31779600-31782400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:31779600-31782400	Enhancers	NHDF-Ad	bronchial
11	chr15:31779600-31782400	Enhancers	NHLF	lung
12	chr15:31779800-31782400	Enhancers	Gastric	stomach
13	chr15:31779800-31782600	Enhancers	Stomach Mucosa	stomach
14	chr15:31780000-31782400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:31780000-31782400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:31780000-31782400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr15:31780000-31782400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:31780000-31782400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr15:31780000-31782400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:31780000-31782400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:31780000-31782400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr15:31780000-31782600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:31780000-31782800	Enhancers	Primary B cells from peripheral blood	blood
24	chr15:31780000-31782800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr15:31780200-31782400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr15:31780200-31782400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:31780200-31782400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr15:31780200-31782400	Enhancers	HMEC	breast
29	chr15:31780200-31782400	Enhancers	NH-A	brain
30	chr15:31780200-31782800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr15:31780400-31782200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:31780400-31782400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:31780400-31782400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:31780400-31782400	Enhancers	Liver	Liver
35	chr15:31780400-31782400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:31780400-31782400	Enhancers	Lung	lung
37	chr15:31780400-31782400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr15:31780400-31782400	Enhancers	Stomach Smooth Muscle	stomach
39	chr15:31780400-31782400	Enhancers	HSMM	muscle
40	chr15:31780400-31782800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:31780600-31782000	Enhancers	Fetal Muscle Trunk	muscle
42	chr15:31780600-31782400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:31780600-31782400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr15:31780600-31782400	Enhancers	Adipose Nuclei	Adipose
45	chr15:31780600-31782400	Enhancers	Brain Hippocampus Middle	brain
46	chr15:31780600-31782400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr15:31780600-31782400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:31780600-31782400	Enhancers	Placenta	Placenta
49	chr15:31780600-31782400	Enhancers	Left Ventricle	heart
50	chr15:31780600-31782400	Enhancers	Right Atrium	heart

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