Variant report

Variant	rs7148998
Chromosome Location	chr14:66962341-66962342
allele	G/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	chr14:66962300-66962450	HCFaa	heart:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
2	MAFK	chr14:66961868-66962536	HepG2	liver:	n/a	chr14:66962358-66962378
3	RAD21	chr14:66962195-66962607	IMR90	lung:	n/a	chr14:66962379-66962398
4	CTCF	chr14:66962142-66962577	T-47D	breast:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
5	CTCF	chr14:66962280-66962430	GM12864	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
6	CTCF	chr14:66962246-66962543	Medullo	brain:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
7	CTCF	chr14:66962320-66962470	HPAF	blood vessel:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
8	CTCF	chr14:66962300-66962450	HepG2	liver:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
9	CTCF	chr14:66962340-66962490	HEK293	kidney:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
10	CTCF	chr14:66962066-66962633	GM12878	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
11	RAD21	chr14:66962089-66962716	A549	lung:	n/a	chr14:66962677-66962689 chr14:66962379-66962398
12	CTCF	chr14:66962276-66962579	ECC-1	luminal epithelium:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
13	CTCF	chr14:66962260-66962410	GM12870	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
14	RAD21	chr14:66962248-66962556	GM12878	blood:	n/a	chr14:66962379-66962398
15	CTCF	chr14:66962287-66962512	Gliobla	brain:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
16	CTCF	chr14:66962340-66962490	HPF	lung:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
17	FOXA1	chr14:66962288-66962461	HepG2	liver:	n/a	n/a
18	CTCF	chr14:66962300-66962450	AG09319	gingival:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
19	SMC3	chr14:66962205-66962694	Hela-S3	cervix:	n/a	chr14:66962380-66962394
20	CTCF	chr14:66962340-66962490	RPTEC	kidney:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
21	CTCF	chr14:66962320-66962470	NHLF	lung:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
22	CTCF	chr14:66962253-66962560	Lung_OC	lung:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
23	CTCF	chr14:66962300-66962450	GM12867	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
24	CTCF	chr14:66962320-66962470	HEK293	kidney:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
25	CTCF	chr14:66962199-66962541	K562	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
26	CTCF	chr14:66962337-66962489	MCF-7	breast:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
27	CTCF	chr14:66962340-66962490	MCF-7	breast:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
28	CTCF	chr14:66962172-66962583	A549	lung:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
29	CTCF	chr14:66962300-66962450	GM12875	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
30	CTCF	chr14:66962300-66962450	SAEC	small airway:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
31	CTCF	chr14:66962340-66962490	GM12872	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
32	RAD21	chr14:66962149-66962652	H1-hESC	embryonic stem cell:	n/a	chr14:66962379-66962398
33	RAD21	chr14:66962180-66962585	GM12878	blood:	n/a	chr14:66962379-66962398
34	CTCF	chr14:66962269-66962515	LNCaP	prostate:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
35	CTCF	chr14:66962204-66962537	T-47D	breast:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
36	E2F4	chr14:66962141-66962604	MCF10A-Er-Src	breast:	n/a	n/a
37	RAD21	chr14:66962304-66962521	K562	blood:	n/a	chr14:66962379-66962398
38	CTCF	chr14:66962300-66962450	HBMEC	blood vessel:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
39	CTCF	chr14:66962320-66962470	AG09309	skin:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
40	CTCF	chr14:66962300-66962450	K562	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
41	CTCF	chr14:66962259-66962519	GM12878	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
42	CTCF	chr14:66962246-66962539	Spleen_OC	spleen:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
43	CTCF	chr14:66962320-66962470	HMF	breast:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
44	CTCF	chr14:66962297-66962495	A549	lung:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
45	CTCF	chr14:66962320-66962470	SK-N-SH_RA	brain:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
46	CTCF	chr14:66962240-66962390	HAc	cerebellar:	n/a	n/a
47	CTCF	chr14:66962340-66962490	GM12870	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
48	CTCF	chr14:66962320-66962470	HVMF	connective:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
49	CTCF	chr14:66962278-66962519	Kidney_OC	kidney:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401
50	CTCF	chr14:66962320-66962470	GM12864	blood:	n/a	chr14:66962381-66962394 chr14:66962379-66962395 chr14:66962378-66962396 chr14:66962380-66962401

No.	Distal block	Cell Line	Cell type
1	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
2	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
3	chr14:66962164..66962780-chr14:67602828..67603411,2	MCF-7	breast:
4	chr14:66959243..66962644-chr14:66973732..66976358,4	MCF-7	breast:
5	chr14:66960572..66962463-chr14:66966827..66968596,2	MCF-7	breast:
6	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
7	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:

Variant related genes	Relation type
LINC00238	TF binding region
ENSG00000258561	Chromatin interaction
ENSG00000171723	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7153121	1.00[AMR][1000 genomes]
rs7153901	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2755038	chr14:66869437-67041440	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7148998	SPINK13	trans	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66950400-66962800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:66952200-66973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:66954400-66970200	Weak transcription	Gastric	stomach
4	chr14:66954600-66962400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:66956800-66962400	Weak transcription	Adipose Nuclei	Adipose
6	chr14:66958400-66962600	Weak transcription	Fetal Heart	heart
7	chr14:66958600-66965600	Weak transcription	Small Intestine	intestine
8	chr14:66960600-66962400	Enhancers	Liver	Liver
9	chr14:66961800-66962600	Enhancers	Hela-S3	cervix
10	chr14:66962000-66962400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:66962000-66963400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:66962000-66964600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:66962200-66962400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:66962200-66962400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:66962200-66962400	Enhancers	Brain Angular Gyrus	brain
16	chr14:66962200-66962400	Enhancers	Brain Substantia Nigra	brain
17	chr14:66962200-66962400	Enhancers	Colon Smooth Muscle	Colon
18	chr14:66962200-66962400	Enhancers	Duodenum Mucosa	Duodenum
19	chr14:66962200-66962400	Enhancers	NHEK	skin
20	chr14:66962200-66962600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:66962200-66963000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:66962200-66963800	Enhancers	Dnd41	blood
23	chr14:66962200-66964000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:66962200-66964000	Enhancers	Primary T helper cells fromperipheralblood	blood

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