Variant report

Variant	rs73398284
Chromosome Location	chr15:49714400-49714401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:49714265-49714409	GM19239	blood:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
2	CTCF	chr15:49714216-49714404	GM10248	blood:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
3	ARID3A	chr15:49714121-49714466	HepG2	liver:	n/a	n/a
4	RAD21	chr15:49713901-49714540	HepG2	liver:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
5	JUND	chr15:49714131-49714509	HepG2	liver:	n/a	chr15:49714256-49714265
6	FOS	chr15:49714193-49714425	MCF10A-Er-Src	breast:	n/a	chr15:49714256-49714265
7	MAX	chr15:49714223-49714488	K562	blood:	n/a	n/a
8	CTCF	chr15:49714153-49714481	Spleen_OC	spleen:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
9	CTCF	chr15:49714380-49714530	WI-38	lung:	n/a	n/a
10	SMC3	chr15:49713848-49714529	SK-N-SH	brain:	n/a	chr15:49714284-49714298 chr15:49714290-49714298
11	SMC3	chr15:49714105-49714488	K562	blood:	n/a	chr15:49714284-49714298 chr15:49714290-49714298
12	STAT3	chr15:49714201-49714401	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr15:49714260-49714410	K562	blood:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
14	CTCF	chr15:49714105-49714552	MCF-7	breast:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
15	CTCF	chr15:49714256-49714424	NHEK	skin:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
16	CTCF	chr15:49714285-49714420	H1-hESC	embryonic stem cell:	n/a	chr15:49714288-49714297
17	CBX3	chr15:49714117-49714501	K562	blood:	n/a	n/a
18	STAT3	chr15:49714237-49714415	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr15:49714006-49714511	HepG2	liver:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
20	MYC	chr15:49714198-49714460	MCF10A-Er-Src	breast:	n/a	n/a
21	YY1	chr15:49714207-49714504	GM12878	blood:	n/a	n/a
22	RAD21	chr15:49713994-49714484	HCT-116	colon:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
23	JUND	chr15:49714034-49714481	H1-hESC	embryonic stem cell:	n/a	chr15:49714256-49714265
24	CTCF	chr15:49713884-49714508	HCT-116	colon:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
25	CTCF	chr15:49714270-49714415	MCF-7	breast:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
26	ZNF143	chr15:49714108-49714475	GM12878	blood:	n/a	n/a
27	CTCF	chr15:49714177-49714425	LNCaP	prostate:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
28	CTCF	chr15:49714260-49714410	GM12864	blood:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
29	CTCF	chr15:49714280-49714430	HBMEC	blood vessel:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714284-49714297 chr15:49714282-49714300
30	CTCF	chr15:49714024-49714508	IMR90	lung:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
31	CTCF	chr15:49714229-49714419	MCF-7	breast:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
32	CTCF	chr15:49714260-49714410	HEEpiC	esophagus:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
33	CTCF	chr15:49714213-49714408	HepG2	liver:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
34	CREB1	chr15:49714090-49714467	HepG2	liver:	n/a	n/a
35	MAZ	chr15:49714221-49714413	K562	blood:	n/a	n/a
36	CTCF	chr15:49714255-49714414	MCF-7	breast:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
37	ELK4	chr15:49714094-49714476	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr15:49714006-49714515	MCF-7	breast:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
39	CTCF	chr15:49714260-49714410	AG09309	skin:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
40	RAD21	chr15:49713900-49714580	ECC-1	luminal epithelium:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
41	CTCF	chr15:49714216-49714434	Gliobla	brain:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
42	BCLAF1	chr15:49714075-49714525	GM12878	blood:	n/a	n/a
43	RAD21	chr15:49714145-49714492	HepG2	liver:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
44	CTCF	chr15:49714183-49714416	LNCaP	prostate:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
45	RAD21	chr15:49714088-49714548	GM12878	blood:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
46	ZZZ3	chr15:49714189-49714500	GM12878	blood:	n/a	n/a
47	RAD21	chr15:49714045-49714436	SK-N-SH_RA	brain:	n/a	chr15:49714280-49714299 chr15:49714289-49714298
48	CTCF	chr15:49714236-49714432	Fibrobl	skin:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
49	CTCF	chr15:49714005-49714561	HCT-116	colon:	n/a	chr15:49714288-49714297 chr15:49714283-49714299 chr15:49714277-49714298 chr15:49714284-49714297 chr15:49714282-49714300
50	SMC3	chr15:49714014-49714481	Hela-S3	cervix:	n/a	chr15:49714284-49714298 chr15:49714290-49714298

No.	Distal block	Cell Line	Cell type
1	chr15:49507777..49508557-chr15:49713732..49714707,3	MCF-7	breast:
2	chr15:49662846..49663716-chr15:49714002..49714753,7	MCF-7	breast:
3	chr15:49527728..49528436-chr15:49713894..49714536,2	K562	blood:
4	chr15:49527636..49528418-chr15:49713788..49714635,3	MCF-7	breast:
5	chr15:48650245..48651012-chr15:49714265..49714809,2	K562	blood:
6	chr15:49527761..49528667-chr15:49713584..49714644,4	MCF-7	breast:

Variant related genes	Relation type
FGF7	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1023683	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519221	1.00[ASN][1000 genomes]
rs10519226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519227	0.83[AFR][1000 genomes]
rs11630318	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11632038	1.00[ASN][1000 genomes]
rs11632303	1.00[ASN][1000 genomes]
rs11632575	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633282	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634636	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11635005	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11635308	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635354	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635814	1.00[ASN][1000 genomes]
rs11638314	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638606	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639423	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592277	0.87[AFR][1000 genomes]
rs12913966	1.00[ASN][1000 genomes]
rs1354918	0.81[AMR][1000 genomes]
rs1588127	0.81[AMR][1000 genomes]
rs17396119	1.00[ASN][1000 genomes]
rs17396536	1.00[ASN][1000 genomes]
rs17396747	1.00[ASN][1000 genomes]
rs17397211	1.00[ASN][1000 genomes]
rs17400427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400706	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17400916	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476361	1.00[ASN][1000 genomes]
rs17477722	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477923	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17478618	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479003	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479205	0.83[AFR][1000 genomes]
rs17479289	0.83[AFR][1000 genomes]
rs17480434	0.81[AMR][1000 genomes]
rs28393768	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28408092	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28409376	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28430272	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28465200	0.81[AMR][1000 genomes]
rs28484276	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28492008	0.81[AMR][1000 genomes]
rs28635979	0.81[AMR][1000 genomes]
rs28669217	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35692325	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4338740	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57252806	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57749497	1.00[ASN][1000 genomes]
rs57785991	1.00[ASN][1000 genomes]
rs59112977	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60594237	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61259878	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7162633	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7165168	1.00[ASN][1000 genomes]
rs7167474	1.00[ASN][1000 genomes]
rs7168316	0.83[AFR][1000 genomes]
rs7177624	1.00[ASN][1000 genomes]
rs73390384	1.00[ASN][1000 genomes]
rs73390392	1.00[ASN][1000 genomes]
rs73392236	1.00[ASN][1000 genomes]
rs73392249	1.00[ASN][1000 genomes]
rs73392256	1.00[ASN][1000 genomes]
rs73392277	1.00[ASN][1000 genomes]
rs73392288	1.00[ASN][1000 genomes]
rs73394324	1.00[ASN][1000 genomes]
rs73394333	1.00[ASN][1000 genomes]
rs73394339	1.00[ASN][1000 genomes]
rs73394355	1.00[ASN][1000 genomes]
rs73394359	1.00[ASN][1000 genomes]
rs73396235	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396238	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73398223	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73398243	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398264	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73398272	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398276	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8027094	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030457	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040716	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73398284	FGF7	cis	Muscle Skeletal	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49708400-49714400	Weak transcription	HUVEC	blood vessel
2	chr15:49709800-49715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:49714000-49714400	Enhancers	Osteobl	bone
4	chr15:49714000-49714600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:49714000-49714600	Enhancers	Brain Cingulate Gyrus	brain
6	chr15:49714000-49714600	Active TSS	Brain Hippocampus Middle	brain
7	chr15:49714000-49714800	Active TSS	Brain Substantia Nigra	brain
8	chr15:49714000-49715000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:49714000-49715000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr15:49714000-49715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr15:49714000-49715600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr15:49714000-49715800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr15:49714000-49715800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr15:49714000-49720400	Active TSS	Ovary	ovary
15	chr15:49714000-49720800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:49714000-49721000	Active TSS	Colon Smooth Muscle	Colon
17	chr15:49714000-49722600	Active TSS	Stomach Smooth Muscle	stomach
18	chr15:49714200-49714600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr15:49714200-49714600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:49714200-49714600	Active TSS	Aorta	Aorta
21	chr15:49714200-49714600	Active TSS	Liver	Liver
22	chr15:49714200-49714600	Enhancers	Fetal Brain Male	brain
23	chr15:49714200-49714600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:49714200-49714600	Active TSS	Fetal Lung	lung
25	chr15:49714200-49714600	Enhancers	Fetal Muscle Leg	muscle
26	chr15:49714200-49714600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr15:49714200-49714600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr15:49714200-49714600	Active TSS	Dnd41	blood
29	chr15:49714200-49715200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:49714200-49715200	Enhancers	Fetal Heart	heart
31	chr15:49714200-49716400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:49714200-49716800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr15:49714200-49718600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:49714200-49719400	Active TSS	Fetal Kidney	kidney
35	chr15:49714200-49721000	Active TSS	Rectal Smooth Muscle	rectum
36	chr15:49714200-49721000	Active TSS	Right Atrium	heart
37	chr15:49714200-49721400	Active TSS	Adipose Nuclei	Adipose
38	chr15:49714400-49714600	Enhancers	HUVEC	blood vessel
39	chr15:49714400-49714800	Active TSS	Brain Anterior Caudate	brain
40	chr15:49714400-49714800	Flanking Active TSS	Osteobl	bone
41	chr15:49714400-49715600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr15:49714400-49715600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:49714400-49716600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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