Variant report

Variant	rs7170529
Chromosome Location	chr15:99982447-99982448
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99974033..99977897-chr15:99978912..99982934,5	K562	blood:
2	chr15:99981781..99983657-chr15:100018041..100019744,2	MCF-7	breast:
3	chr15:99977572..99979807-chr15:99980072..99982815,2	K562	blood:
4	chr15:99975316..99977266-chr15:99981293..99982934,2	K562	blood:
5	chr15:99981264..99984715-chr15:99985641..99987973,4	MCF-7	breast:
6	chr15:99981180..99982961-chr15:99993073..99995315,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11247094	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11638998	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12050818	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12903392	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12909582	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1545246	0.81[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs1561864	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1561866	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1561868	0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[ASN][1000 genomes]
rs2119939	0.93[ASN][1000 genomes]
rs28393358	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28463528	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2862151	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4965234	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4965489	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4965490	0.90[ASN][1000 genomes]
rs4965493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6598247	0.90[ASN][1000 genomes]
rs6598248	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6598249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162570	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7162817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165066	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167464	0.81[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7169461	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169660	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182313	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8032786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs894416	0.97[EUR][1000 genomes]
rs930483	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	47 gene(s)	inside rSNPs	diseases
10	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv904549	chr15:99940221-99991506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519800	chr15:99950772-99987109	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv904552	chr15:99954278-99982447	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv904553	chr15:99954278-99983175	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv904556	chr15:99956954-99987109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv904557	chr15:99956954-99991506	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv519319	chr15:99972661-99991506	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv570728	chr15:99973369-99986764	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7170529	TTC23	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99974200-99984000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr15:99976600-99984800	Enhancers	Fetal Muscle Leg	muscle
3	chr15:99978800-99983000	Weak transcription	Aorta	Aorta
4	chr15:99979200-99995800	Enhancers	Fetal Thymus	thymus
5	chr15:99979400-99984000	Weak transcription	Brain Anterior Caudate	brain
6	chr15:99979400-99987000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:99979400-99987400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:99979600-99983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:99980400-99982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:99980400-99984800	Enhancers	Left Ventricle	heart
11	chr15:99980800-99984200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:99980800-99984200	Enhancers	Right Ventricle	heart
13	chr15:99980800-99984400	Enhancers	Fetal Muscle Trunk	muscle
14	chr15:99980800-99987600	Enhancers	Thymus	Thymus
15	chr15:99981000-99983200	Enhancers	Brain Germinal Matrix	brain
16	chr15:99981000-99984600	Enhancers	Right Atrium	heart
17	chr15:99981200-99982800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:99981200-99983200	Enhancers	Placenta	Placenta
19	chr15:99981200-99983600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:99981200-99984200	Enhancers	Lung	lung
21	chr15:99981200-99984400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:99981200-99984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr15:99981200-99989000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr15:99981200-99990800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr15:99981200-99991000	Enhancers	Primary T cells from cord blood	blood
26	chr15:99981400-99983400	Enhancers	Colonic Mucosa	Colon
27	chr15:99981400-99983400	Enhancers	Fetal Kidney	kidney
28	chr15:99981400-99983400	Enhancers	Fetal Lung	lung
29	chr15:99981400-99983400	Enhancers	Fetal Stomach	stomach
30	chr15:99981400-99983400	Enhancers	A549	lung
31	chr15:99981400-99983600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr15:99981400-99984400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:99981600-99982600	Flanking Active TSS	NHDF-Ad	bronchial
34	chr15:99981600-99983000	Enhancers	Fetal Brain Male	brain
35	chr15:99981600-99983400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr15:99981600-99983600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:99981600-99983600	Enhancers	Colon Smooth Muscle	Colon
38	chr15:99981600-99983600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr15:99981600-99983600	Enhancers	Stomach Mucosa	stomach
40	chr15:99981800-99983200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr15:99981800-99984200	Enhancers	Esophagus	oesophagus
42	chr15:99982000-99982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:99982000-99982600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:99982000-99982600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:99982000-99982600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr15:99982000-99982600	Enhancers	Brain Cingulate Gyrus	brain
47	chr15:99982000-99982800	Enhancers	HSMM	muscle
48	chr15:99982000-99983000	Enhancers	Duodenum Mucosa	Duodenum
49	chr15:99982000-99983200	Enhancers	Fetal Intestine Small	intestine
50	chr15:99982000-99983200	Enhancers	Gastric	stomach

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