Variant report

Variant	rs11547365
Chromosome Location	chr14:35761640-35761641
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	SIN3AK20	chr14:35761359-35762139	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr14:35761117-35762053	A549	lung:	n/a	chr14:35761447-35761456 chr14:35761469-35761481 chr14:35761499-35761508
3	NFATC1	chr14:35761014-35761707	GM12878	blood:	n/a	n/a
4	TAF1	chr14:35761143-35762076	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr14:35761074-35762108	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr14:35761180-35762063	HepG2	liver:	n/a	chr14:35761446-35761457 chr14:35761443-35761457 chr14:35761446-35761460 chr14:35761499-35761508
7	RCOR1	chr14:35761288-35761732	K562	blood:	n/a	n/a
8	ELF1	chr14:35760999-35761875	GM12878	blood:	n/a	chr14:35761583-35761594 chr14:35761604-35761613 chr14:35761581-35761594 chr14:35761603-35761614
9	ELF1	chr14:35761063-35762188	MCF-7	breast:	n/a	chr14:35761583-35761594 chr14:35761604-35761613 chr14:35761581-35761594 chr14:35761603-35761614
10	POLR2A	chr14:35761037-35762417	HL-60	blood:	n/a	n/a
11	FOXM1	chr14:35760864-35761988	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:35760996-35762148	H1-neurons	neurons:	n/a	n/a
13	RCOR1	chr14:35761157-35761876	HepG2	liver:	n/a	n/a
14	BCL3	chr14:35761106-35762076	A549	lung:	n/a	n/a
15	TAF1	chr14:35760738-35762139	HepG2	liver:	n/a	n/a
16	REST	chr14:35760707-35762231	HepG2	liver:	n/a	chr14:35761962-35761975
17	SP1	chr14:35761129-35761954	A549	lung:	n/a	chr14:35761499-35761508 chr14:35761495-35761509 chr14:35761499-35761509 chr14:35761499-35761509 chr14:35761498-35761510 chr14:35761500-35761509 chr14:35761498-35761510 chr14:35761500-35761509
18	POLR2A	chr14:35761071-35762459	PBDE	blood:	n/a	n/a
19	POLR2A	chr14:35761089-35761943	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr14:35761104-35762068	GM19193	blood:	n/a	n/a
21	POLR2A	chr14:35761251-35762021	A549	lung:	n/a	n/a
22	SP1	chr14:35761077-35761749	GM12878	blood:	n/a	chr14:35761499-35761508 chr14:35761495-35761509 chr14:35761499-35761509 chr14:35761499-35761509 chr14:35761498-35761510 chr14:35761500-35761509 chr14:35761498-35761510 chr14:35761500-35761509
23	ETS1	chr14:35761196-35761928	A549	lung:	n/a	chr14:35761601-35761611 chr14:35761603-35761612
24	NRF1	chr14:35761246-35761828	GM12878	blood:	n/a	chr14:35761446-35761457 chr14:35761443-35761457 chr14:35761445-35761456 chr14:35761446-35761460 chr14:35761499-35761508
25	MAFK	chr14:35761228-35762044	K562	blood:	n/a	n/a
26	EP300	chr14:35761377-35761832	K562	blood:	n/a	chr14:35761604-35761611
27	CHD2	chr14:35761219-35761887	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:35760982-35762501	GM12878	blood:	n/a	n/a
29	CEBPB	chr14:35761427-35761680	HepG2	liver:	n/a	n/a
30	MAFK	chr14:35761201-35761803	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:35761184-35761992	A549	lung:	n/a	n/a
32	REST	chr14:35761389-35761839	Hela-S3	cervix:	n/a	n/a
33	ELF1	chr14:35761059-35762138	MCF-7	breast:	n/a	chr14:35761583-35761594 chr14:35761604-35761613 chr14:35761581-35761594 chr14:35761603-35761614
34	POLR2A	chr14:35760858-35762086	PFSK-1	brain:	n/a	n/a
35	MBD4	chr14:35760938-35762766	HepG2	liver:	n/a	n/a
36	MAX	chr14:35761126-35762095	MCF-7	breast:	n/a	n/a
37	FOS	chr14:35761431-35761662	MCF10A-Er-Src	breast:	n/a	n/a
38	ZC3H11A	chr14:35761542-35761742	K562	blood:	n/a	n/a
39	POLR2A	chr14:35760866-35762449	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:35760868-35762665	GM12891	blood:	n/a	n/a
41	POLR2A	chr14:35761064-35762084	Raji	blood:	n/a	n/a
42	MXI1	chr14:35761432-35761812	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF7L2	chr14:35761111-35761902	Hela-S3	cervix:	n/a	chr14:35761457-35761471 chr14:35761462-35761469
44	ATF2	chr14:35761368-35761827	H1-hESC	embryonic stem cell:	n/a	n/a
45	MEF2C	chr14:35760962-35761715	GM12878	blood:	n/a	chr14:35761297-35761312 chr14:35761326-35761341
46	NR2C2	chr14:35761413-35761762	K562	blood:	n/a	chr14:35761582-35761591 chr14:35761583-35761590
47	SP1	chr14:35761181-35761863	A549	lung:	n/a	chr14:35761499-35761508 chr14:35761495-35761509 chr14:35761499-35761509 chr14:35761499-35761509 chr14:35761498-35761510 chr14:35761500-35761509 chr14:35761498-35761510 chr14:35761500-35761509
48	NFIC	chr14:35760940-35762385	HepG2	liver:	n/a	chr14:35761067-35761084
49	GABPA	chr14:35761024-35762344	A549	lung:	n/a	chr14:35761446-35761457 chr14:35761443-35761457 chr14:35761446-35761460 chr14:35761499-35761508
50	POLR2A	chr14:35761054-35762103	GM18951	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:35761633-35761683	SAEC	small airway:	n/a
2	chr14:35761633-35761683	CMK	blood:	n/a
3	chr14:35761633-35761683	HCT-116	colon:	n/a
4	chr14:35761633-35761683	HIPEpiC	eye:	n/a
5	chr14:35761633-35761683	HEEpiC	esophagus:	n/a
6	chr14:35761633-35761683	PFSK-1	brain:	n/a
7	chr14:35761633-35761683	A549	lung:	n/a
8	chr14:35761633-35761683	HRE	kidney:	n/a
9	chr14:35761633-35761683	HEK293	kidney:	embryo
10	chr14:35761633-35761683	LNCaP	prostate:	n/a
11	chr14:35761633-35761683	BE2_C	brain:	n/a
12	chr14:35761633-35761683	HL-60	blood:	n/a
13	chr14:35761633-35761683	HCF	heart:	n/a
14	chr14:35761633-35761683	T-47D	breast:	n/a
15	chr14:35761633-35761683	NB4	blood:	n/a
16	chr14:35761633-35761683	Jurkat	blood:	n/a
17	chr14:35761633-35761683	HRPEpiC	eye:	n/a
18	chr14:35761633-35761683	ProgFib	skin:	n/a
19	chr14:35761633-35761683	HepG2	liver:	n/a
20	chr14:35761633-35761683	NHBE	bronchial:	n/a
21	chr14:35761633-35761683	MCF10A-Er-Src	breast:	n/a
22	chr14:35761633-35761683	RPTEC	kidney:	n/a
23	chr14:35761633-35761683	HUVEC	blood vessel:	n/a
24	chr14:35761633-35761683	HCPEpiC	choroid plexus:	n/a
25	chr14:35761633-35761683	AoSMC	blood vessel:	n/a
26	chr14:35761633-35761683	NHDF-neo	bronchial:	n/a
27	chr14:35761633-35761683	GM12891	blood:	n/a
28	chr14:35761633-35761683	HMEC	breast:	n/a
29	chr14:35761633-35761683	HAEpiC	amniotic membrane:	n/a
30	chr14:35761633-35761683	PrEC	prostate:	n/a
31	chr14:35761633-35761683	HRCEpiC	kidney:	n/a
32	chr14:35761633-35761683	AG09319	gingival:	n/a
33	chr14:35761633-35761683	SK-N-MC	brain:	n/a
34	chr14:35761633-35761683	Hela-S3	cervix:	n/a
35	chr14:35761633-35761683	SK-N-SH	brain:	n/a
36	chr14:35761633-35761683	BJ	skin:	n/a
37	chr14:35761633-35761683	GM12892	blood:	n/a
38	chr14:35761633-35761683	ovcar-3	ovarian:	n/a
39	chr14:35761633-35761683	NH-A	brain:	n/a
40	chr14:35761633-35761683	U87	brain:	n/a
41	chr14:35761633-35761683	AG10803	skin:	n/a
42	chr14:35761633-35761683	K562	blood:	n/a
43	chr14:35761633-35761683	Hepatocyte	liver:	n/a
44	chr14:35761633-35761683	AG04450	lung:	fetal
45	chr14:35761633-35761683	AG04449	skin:	fetal
46	chr14:35761633-35761683	GM12878	blood:	n/a
47	chr14:35761633-35761683	ECC-1	luminal epithelium:	n/a
48	chr14:35761633-35761683	SK-N-SH_RA	brain:	n/a
49	chr14:35761633-35761683	H1-hESC	embryonic stem cell:	embryo
50	chr14:35761633-35761683	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35757780..35767592-chr14:35866063..35878024,53	MCF-7	breast:
2	chr14:35701633..35705447-chr14:35760005..35763215,4	MCF-7	breast:
3	chr14:35761190..35763920-chr14:35872521..35874914,4	K562	blood:
4	chr14:35760513..35762912-chr14:35858124..35860393,3	K562	blood:
5	chr14:35760689..35762512-chr8:131454589..131456596,2	MCF-7	breast:
6	chr14:35757192..35766588-chr14:35865950..35877395,53	MCF-7	breast:

Variant related genes	Relation type
PSMA6	TF binding region
PSMA6	CpG island
ENSG00000100906	Chromatin interaction
ENSG00000256243	Chromatin interaction
ENSG00000240023	Chromatin interaction
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10130007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10132938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10133402	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134499	0.94[EUR][1000 genomes]
rs10134666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136494	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137440	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10137488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140636	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10140985	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10141688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10143083	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10146661	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147734	1.00[EUR][1000 genomes]
rs10148143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148234	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10148872	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10149412	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10467707	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11156879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11156880	1.00[EUR][1000 genomes]
rs11851831	0.85[AMR][1000 genomes]
rs12323542	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458583	0.84[AFR][1000 genomes]
rs2277460	0.84[AFR][1000 genomes]
rs2415281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28460322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28461608	0.93[AFR][1000 genomes]
rs28522717	0.93[AFR][1000 genomes]
rs28625199	1.00[AMR][1000 genomes]
rs55747728	0.85[AMR][1000 genomes]
rs56762985	1.00[AMR][1000 genomes]
rs57606486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58058174	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58177251	0.85[AMR][1000 genomes]
rs59708026	0.85[AMR][1000 genomes]
rs59954445	0.85[AMR][1000 genomes]
rs60206834	0.85[AMR][1000 genomes]
rs7140912	0.93[AFR][1000 genomes]
rs7141690	0.85[AMR][1000 genomes]
rs7145488	0.85[AMR][1000 genomes]
rs7154775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158592	0.85[AMR][1000 genomes]
rs8004205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8014594	0.84[AFR][1000 genomes]
rs8017330	0.93[AFR][1000 genomes]
rs8018707	1.00[EUR][1000 genomes]
rs9322944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9322945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9322946	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35759600-35763200	Active TSS	Fetal Kidney	kidney
2	chr14:35760400-35763400	Active TSS	Placenta	Placenta
3	chr14:35760600-35762200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:35760600-35762200	Active TSS	Fetal Brain Female	brain
5	chr14:35760600-35762400	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:35760600-35762400	Active TSS	Fetal Stomach	stomach
7	chr14:35760600-35762600	Active TSS	Small Intestine	intestine
8	chr14:35760600-35762800	Active TSS	Right Ventricle	heart
9	chr14:35760600-35763000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:35760600-35763000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:35760600-35763400	Active TSS	Fetal Intestine Small	intestine
12	chr14:35760600-35763600	Active TSS	Fetal Intestine Large	intestine
13	chr14:35760600-35763800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:35760600-35765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:35760800-35761800	Active TSS	Primary T cells from cord blood	blood
16	chr14:35760800-35761800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr14:35760800-35762000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr14:35760800-35762000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:35760800-35762200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:35760800-35762200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr14:35760800-35762200	Active TSS	Brain Anterior Caudate	brain
22	chr14:35760800-35762200	Active TSS	Brain Cingulate Gyrus	brain
23	chr14:35760800-35762200	Active TSS	Brain Hippocampus Middle	brain
24	chr14:35760800-35762200	Active TSS	Brain Substantia Nigra	brain
25	chr14:35760800-35762200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr14:35760800-35762200	Active TSS	Pancreas	Pancrea
27	chr14:35760800-35762200	Active TSS	Rectal Smooth Muscle	rectum
28	chr14:35760800-35762400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr14:35760800-35762400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:35760800-35762400	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:35760800-35762400	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr14:35760800-35762400	Active TSS	Brain Angular Gyrus	brain
33	chr14:35760800-35762400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr14:35760800-35762400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:35760800-35762400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr14:35760800-35762400	Active TSS	Fetal Lung	lung
37	chr14:35760800-35762400	Active TSS	NH-A	brain
38	chr14:35760800-35762400	Active TSS	Osteobl	bone
39	chr14:35760800-35762600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:35760800-35762600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr14:35760800-35762600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:35760800-35762600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:35760800-35762600	Active TSS	Colonic Mucosa	Colon
44	chr14:35760800-35762600	Active TSS	Esophagus	oesophagus
45	chr14:35760800-35762600	Active TSS	HUVEC	blood vessel
46	chr14:35760800-35762800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr14:35760800-35762800	Active TSS	Aorta	Aorta
48	chr14:35760800-35763000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:35760800-35763000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr14:35760800-35763000	Active TSS	Fetal Muscle Leg	muscle

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