Variant report

Variant	rs12147055
Chromosome Location	chr14:68171269-68171270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:68171176-68171467	K562	blood:	n/a	n/a
2	CTCF	chr14:68171248-68171507	GM13977	blood:	n/a	n/a
3	RAD21	chr14:68171036-68171688	HepG2	liver:	n/a	n/a
4	SPI1	chr14:68171134-68171424	HL-60	blood:	n/a	n/a
5	RAD21	chr14:68171123-68171594	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:68171262-68171446	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr14:68171166-68171540	T-47D	breast:	n/a	n/a
8	CTCF	chr14:68171233-68171502	Pancreas_OC	pancreas:	n/a	n/a
9	RAD21	chr14:68171179-68171575	A549	lung:	n/a	n/a
10	RFX5	chr14:68171132-68171542	Hela-S3	cervix:	n/a	chr14:68171421-68171434
11	CTCF	chr14:68171206-68171554	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr14:68171260-68171410	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr14:68171167-68171595	K562	blood:	n/a	n/a
14	SPI1	chr14:68171197-68171395	GM12878	blood:	n/a	n/a
15	RAD21	chr14:68171083-68171670	MCF-7	breast:	n/a	n/a
16	ARID3A	chr14:68171192-68171429	K562	blood:	n/a	n/a
17	MAZ	chr14:68171156-68171601	HepG2	liver:	n/a	n/a
18	CTCF	chr14:68171177-68171538	A549	lung:	n/a	n/a
19	CTCF	chr14:68171100-68171630	MCF-7	breast:	n/a	n/a
20	RAD21	chr14:68171107-68171533	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr14:68171178-68171529	A549	lung:	n/a	n/a
22	SMC3	chr14:68171164-68171566	HepG2	liver:	n/a	n/a
23	CTCF	chr14:68170919-68172143	A549	lung:	n/a	n/a
24	CTCF	chr14:68171260-68171410	K562	blood:	n/a	n/a
25	RAD21	chr14:68171160-68171642	HepG2	liver:	n/a	n/a
26	WRNIP1	chr14:68171225-68171473	GM12878	blood:	n/a	n/a
27	RAD21	chr14:68170981-68171775	HCT-116	colon:	n/a	n/a
28	CTCF	chr14:68171260-68171410	GM12866	blood:	n/a	n/a
29	SPI1	chr14:68170913-68171738	GM12878	blood:	n/a	chr14:68170963-68170976
30	SPI1	chr14:68171144-68171404	K562	blood:	n/a	n/a
31	CTCF	chr14:68171260-68171410	GM12870	blood:	n/a	n/a
32	CTCF	chr14:68171253-68171661	HCT-116	colon:	n/a	n/a
33	CTCF	chr14:68171107-68171662	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:68171225-68171507	Kidney_OC	kidney:	n/a	n/a
35	SMC3	chr14:68171149-68171556	GM12878	blood:	n/a	n/a
36	SMC3	chr14:68171167-68171541	K562	blood:	n/a	n/a
37	FOXA1	chr14:68171205-68171426	T-47D	breast:	n/a	n/a
38	RAD21	chr14:68171236-68171501	K562	blood:	n/a	n/a
39	EP300	chr14:68171191-68171390	K562	blood:	n/a	n/a
40	CTCF	chr14:68171267-68171479	ProgFib	skin:	n/a	n/a
41	CTCF	chr14:68171233-68171524	HUVEC	blood vessel:	n/a	n/a
42	MAFK	chr14:68171167-68171587	K562	blood:	n/a	n/a
43	CTCF	chr14:68171004-68171761	HCT-116	colon:	n/a	n/a
44	RAD21	chr14:68171188-68171542	K562	blood:	n/a	n/a
45	RAD21	chr14:68171120-68171582	IMR90	lung:	n/a	n/a
46	SPI1	chr14:68171048-68171512	GM12891	blood:	n/a	n/a
47	RFX5	chr14:68171212-68171529	GM12878	blood:	n/a	chr14:68171421-68171434
48	CTCF	chr14:68171239-68171566	Lung_OC	lung:	n/a	n/a
49	CTCF	chr14:68171251-68171491	MCF-7	breast:	n/a	n/a
50	RAD21	chr14:68171096-68171630	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67993411..67993949-chr14:68170946..68171642,2	MCF-7	breast:
2	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
3	chr14:68050450..68051460-chr14:68170491..68171891,10	K562	blood:
4	chr14:68171220..68171774-chr14:68232579..68233209,2	MCF-7	breast:
5	chr14:68050285..68051265-chr14:68171010..68171830,2	MCF-7	breast:
6	chr14:68085038..68085996-chr14:68170872..68171824,5	K562	blood:
7	chr14:68085030..68085991-chr14:68170815..68171645,4	MCF-7	breast:
8	chr14:68065457..68068095-chr14:68169119..68171833,2	MCF-7	breast:
9	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
10	chr14:68133599..68134168-chr14:68170909..68171445,2	MCF-7	breast:
11	chr14:68161792..68164356-chr14:68169236..68171815,2	MCF-7	breast:
12	chr14:68049889..68051990-chr14:68169863..68172640,4	MCF-7	breast:
13	chr14:68083632..68084176-chr14:68170942..68171834,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL369P	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000201529	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1007283	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879877	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12880440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881351	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881994	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12882315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882423	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12882561	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12882897	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12884644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884807	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886140	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12887092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888119	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12889011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12889276	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890397	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12892204	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12892919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893115	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12893900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894707	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895014	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896052	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12898042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249649	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34970739	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61584136	0.82[AFR][1000 genomes]
rs7147925	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73276671	0.86[AFR][1000 genomes]
rs73276676	0.82[AFR][1000 genomes]
rs8007557	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
2	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:68168800-68171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:68170400-68171400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:68170400-68172000	Enhancers	Liver	Liver
6	chr14:68171000-68171400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:68171000-68171400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:68171000-68171800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:68171000-68172000	Enhancers	Stomach Mucosa	stomach
10	chr14:68171000-68172400	Enhancers	A549	lung
11	chr14:68171200-68171400	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr14:68171200-68171600	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:68171200-68171800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:68171200-68171800	Enhancers	HepG2	liver
15	chr14:68171200-68171800	Enhancers	K562	blood
16	chr14:68171200-68172000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:68171200-68172000	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr14:68171200-68172200	Enhancers	Brain Hippocampus Middle	brain
19	chr14:68171200-68172200	Enhancers	HMEC	breast
20	chr14:68171200-68172400	Enhancers	Brain Anterior Caudate	brain
21	chr14:68171200-68172400	Enhancers	Hela-S3	cervix

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