Variant report

Variant	rs1143115
Chromosome Location	chr15:93452297-93452298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
2	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
3	chr15:93450697..93453423-chr15:93486225..93488488,2	K562	blood:
4	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
5	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
6	chr15:93452127..93454142-chr9:136855946..136857790,2	MCF-7	breast:
7	chr15:93451707..93453523-chr15:93542997..93545631,2	K562	blood:

Variant related genes	Relation type
ENSG00000185442	Chromatin interaction
ENSG00000160293	Chromatin interaction
ENSG00000258527	Chromatin interaction
ENSG00000258922	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10852185	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11074119	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592113	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs12594492	0.81[ASN][1000 genomes]
rs12903587	0.94[ASW][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs12904071	0.88[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12907473	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs12908968	0.94[ASW][hapmap];0.88[JPT][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1439618	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1439619	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17648433	0.82[JPT][hapmap]
rs35782805	0.84[ASN][1000 genomes]
rs3826037	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4146836	0.82[AFR][1000 genomes]
rs4146837	0.94[ASW][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7170052	0.94[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
8	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1143115	FAM174B	cis	cerebellum	SCAN
rs1143115	ZNF710	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93448000-93452800	Flanking Active TSS	HUVEC	blood vessel
2	chr15:93448200-93456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:93448600-93452800	Weak transcription	Lung	lung
4	chr15:93448600-93454000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr15:93448600-93457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:93448600-93459200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:93448800-93452600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr15:93449000-93453200	Enhancers	Fetal Heart	heart
9	chr15:93449000-93453400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:93449000-93457600	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:93449200-93452800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:93449200-93453000	Enhancers	Small Intestine	intestine
13	chr15:93449400-93452800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr15:93449400-93457600	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr15:93449600-93453800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:93449600-93455600	Genic enhancers	Dnd41	blood
17	chr15:93449800-93460800	Enhancers	Stomach Mucosa	stomach
18	chr15:93450000-93452400	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr15:93450200-93452400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr15:93450400-93452600	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr15:93450600-93452600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:93450600-93453000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr15:93450600-93453800	Enhancers	Spleen	Spleen
24	chr15:93450600-93459600	Genic enhancers	Fetal Thymus	thymus
25	chr15:93450800-93452400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:93450800-93452400	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
27	chr15:93450800-93453000	Enhancers	HMEC	breast
28	chr15:93451000-93452600	Enhancers	Fetal Muscle Leg	muscle
29	chr15:93451000-93453800	Genic enhancers	Fetal Stomach	stomach
30	chr15:93451000-93454200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:93451000-93454200	Genic enhancers	Fetal Intestine Small	intestine
32	chr15:93451000-93455600	Genic enhancers	Fetal Intestine Large	intestine
33	chr15:93451400-93452400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:93451400-93452400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr15:93451400-93452600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:93451400-93452600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr15:93451400-93452800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:93451400-93452800	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr15:93451400-93453000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
40	chr15:93451400-93453000	Flanking Active TSS	NH-A	brain
41	chr15:93451400-93453200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:93451600-93452400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:93451600-93453000	Enhancers	Colonic Mucosa	Colon
44	chr15:93451600-93453800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:93451600-93453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:93451600-93454600	Genic enhancers	HSMM	muscle
47	chr15:93451600-93455000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr15:93451600-93456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:93451600-93458000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr15:93451800-93452400	Enhancers	Fetal Brain Female	brain

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