Variant report

Variant	rs60475307
Chromosome Location	chr14:37125679-37125680
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	RAD21	chr14:37124972-37125844	HCT-116	colon:	n/a	chr14:37125207-37125219 chr14:37124981-37124994
2	CTCF	chr14:37125560-37125710	AG09319	gingival:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
3	CTCF	chr14:37125458-37125682	MCF-7	breast:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
4	GATA3	chr14:37124966-37125815	MCF-7	breast:	n/a	chr14:37125495-37125504
5	CTCF	chr14:37124966-37125861	HCT-116	colon:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
6	RAD21	chr14:37124931-37125899	MCF-7	breast:	n/a	chr14:37125207-37125219 chr14:37124981-37124994
7	CTCF	chr14:37124858-37125853	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
8	RAD21	chr14:37125090-37125722	HepG2	liver:	n/a	chr14:37125207-37125219
9	CTCF	chr14:37124839-37125932	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
10	CTCF	chr14:37125051-37125742	GM12878	blood:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
11	RAD21	chr14:37125017-37125818	A549	lung:	n/a	chr14:37125207-37125219
12	CTCF	chr14:37125137-37125703	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
13	CTCF	chr14:37125435-37125690	GM12892	blood:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
14	SIN3A	chr14:37125059-37125748	H1-hESC	embryonic stem cell:	n/a	n/a
15	ELF1	chr14:37124889-37125849	MCF-7	breast:	n/a	n/a
16	GABPA	chr14:37125075-37125756	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:37125620-37125770	GM06990	blood:	n/a	n/a
18	E2F6	chr14:37125126-37125719	A549	lung:	n/a	chr14:37125300-37125307 chr14:37125300-37125307 chr14:37125300-37125307
19	RAD21	chr14:37124957-37125803	H1-hESC	embryonic stem cell:	n/a	chr14:37125207-37125219 chr14:37124981-37124994
20	RAD21	chr14:37125042-37125770	A549	lung:	n/a	chr14:37125207-37125219
21	CTCF	chr14:37125109-37125708	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
22	CTCF	chr14:37125425-37125686	Fibrobl	skin:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
23	HDAC2	chr14:37125081-37125836	MCF-7	breast:	n/a	chr14:37125817-37125825
24	CTCF	chr14:37125540-37125690	HMF	breast:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
25	GATA3	chr14:37125227-37125719	MCF-7	breast:	n/a	chr14:37125495-37125504
26	CTBP2	chr14:37124967-37126256	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr14:37125608-37125697	H1-hESC	embryonic stem cell:	n/a	n/a
28	SUZ12	chr14:37123241-37129363	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr14:37125007-37125866	A549	lung:	n/a	n/a
30	CTCF	chr14:37125580-37125730	HFF-Myc	foreskin:	n/a	n/a
31	E2F6	chr14:37124991-37125827	A549	lung:	n/a	chr14:37125300-37125307 chr14:37125300-37125307 chr14:37125300-37125307
32	CTCF	chr14:37125419-37125703	HepG2	liver:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
33	CTCF	chr14:37124984-37125720	HepG2	liver:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
34	JUND	chr14:37125141-37125700	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr14:37125138-37125711	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
36	CTCF	chr14:37124876-37125924	SK-N-SH	brain:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
37	CTCF	chr14:37125560-37125710	GM12869	blood:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
38	SUZ12	chr14:37125132-37130861	NT2-D1	testis:	n/a	n/a
39	MAX	chr14:37125071-37125733	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr14:37125436-37125707	MCF-7	breast:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
41	CTCF	chr14:37125540-37125690	HAc	cerebellar:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
42	BACH1	chr14:37124502-37125731	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:37125478-37125680	GM19239	blood:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
44	CTCF	chr14:37124751-37125713	H1-hESC	embryonic stem cell:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
45	MAX	chr14:37124931-37125883	A549	lung:	n/a	n/a
46	TBP	chr14:37125022-37125713	H1-hESC	embryonic stem cell:	n/a	chr14:37125131-37125142
47	RAD21	chr14:37125068-37126057	H1-hESC	embryonic stem cell:	n/a	chr14:37125207-37125219 chr14:37126000-37126013
48	CTCF	chr14:37125003-37125744	H1-hESC	embryonic stem cell:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
49	CTCF	chr14:37125540-37125690	HPAF	blood vessel:	n/a	chr14:37125565-37125586 chr14:37125570-37125588
50	CTCF	chr14:37125023-37125721	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37125679-37125729	HNPCEpiC	eye:	n/a
2	chr14:37125679-37125729	PANC-1	pancreas:	n/a
3	chr14:37125679-37125729	NB4	blood:	n/a
4	chr14:37125679-37125729	GM06990	blood:	n/a
5	chr14:37125679-37125729	NHBE	bronchial:	n/a
6	chr14:37125679-37125729	LNCaP	prostate:	n/a
7	chr14:37125679-37125729	Hepatocyte	liver:	n/a
8	chr14:37125679-37125729	RPTEC	kidney:	n/a
9	chr14:37125679-37125729	AG04450	lung:	fetal
10	chr14:37125679-37125729	HRCEpiC	kidney:	n/a
11	chr14:37125679-37125729	HEK293	kidney:	embryo
12	chr14:37125679-37125729	AG10803	skin:	n/a
13	chr14:37125679-37125729	HAEpiC	amniotic membrane:	n/a
14	chr14:37125679-37125729	Hela-S3	cervix:	n/a
15	chr14:37125679-37125729	HCF	heart:	n/a
16	chr14:37125679-37125729	GM12892	blood:	n/a
17	chr14:37125679-37125729	AG09309	skin:	n/a
18	chr14:37125679-37125729	MCF-7	breast:	n/a
19	chr14:37125679-37125729	HepG2	liver:	n/a
20	chr14:37125679-37125729	NT2-D1	testis:	n/a
21	chr14:37125679-37125729	GM12878	blood:	n/a
22	chr14:37125679-37125729	HCM	heart:	n/a
23	chr14:37125679-37125729	AoSMC	blood vessel:	n/a
24	chr14:37125679-37125729	HMEC	breast:	n/a
25	chr14:37125679-37125729	Jurkat	blood:	n/a
26	chr14:37125679-37125729	AG09319	gingival:	n/a
27	chr14:37125679-37125729	SKMC	muscle:	n/a
28	chr14:37125679-37125729	BE2_C	brain:	n/a
29	chr14:37125679-37125729	HUVEC	blood vessel:	n/a
30	chr14:37125679-37125729	IMR90	lung:	fetal
31	chr14:37125679-37125729	CMK	blood:	n/a
32	chr14:37125679-37125729	K562	blood:	n/a
33	chr14:37125679-37125729	ovcar-3	ovarian:	n/a
34	chr14:37125679-37125729	GM12891	blood:	n/a
35	chr14:37125679-37125729	SAEC	small airway:	n/a
36	chr14:37125679-37125729	HRPEpiC	eye:	n/a
37	chr14:37125679-37125729	GM19239	blood:	n/a
38	chr14:37125679-37125729	HCT-116	colon:	n/a
39	chr14:37125679-37125729	HL-60	blood:	n/a
40	chr14:37125679-37125729	PFSK-1	brain:	n/a
41	chr14:37125679-37125729	MCF10A-Er-Src	breast:	n/a
42	chr14:37125679-37125729	SK-N-SH_RA	brain:	n/a
43	chr14:37125679-37125729	PrEC	prostate:	n/a
44	chr14:37125679-37125729	HIPEpiC	eye:	n/a
45	chr14:37125679-37125729	T-47D	breast:	n/a
46	chr14:37125679-37125729	HRE	kidney:	n/a
47	chr14:37125679-37125729	Caco-2	colon:	n/a
48	chr14:37125679-37125729	HEEpiC	esophagus:	n/a
49	chr14:37125679-37125729	HCPEpiC	choroid plexus:	n/a
50	chr14:37125679-37125729	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37117154..37117736-chr14:37125062..37125846,2	MCF-7	breast:
2	chr14:37123611..37125752-chr14:37131766..37134871,3	K562	blood:
3	chr14:37124823..37125996-chr14:37445069..37445745,4	MCF-7	breast:
4	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
5	chr14:37124916..37125700-chr14:37411276..37411960,2	MCF-7	breast:

Variant related genes	Relation type
PAX9	TF binding region
PAX9	CpG island
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11848520	1.00[AMR][1000 genomes]
rs56743797	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044448	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044456	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74044457	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123000-37126000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:37123400-37130800	Bivalent/Poised TSS	Fetal Thymus	thymus
3	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:37123600-37126400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr14:37123600-37128200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
6	chr14:37123800-37126400	Bivalent Enhancer	Left Ventricle	heart
7	chr14:37123800-37128000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr14:37124000-37126200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:37124000-37126400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr14:37124200-37126400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr14:37124200-37126800	Enhancers	Pancreas	Pancrea
12	chr14:37124400-37127200	Bivalent Enhancer	Placenta	Placenta
13	chr14:37124800-37125800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:37124800-37125800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:37124800-37125800	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr14:37124800-37126000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:37124800-37126000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr14:37124800-37126200	Bivalent Enhancer	Fetal Brain Female	brain
19	chr14:37124800-37126400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:37125000-37125800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr14:37125000-37126000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:37125000-37126200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr14:37125000-37127000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr14:37125000-37128000	Bivalent Enhancer	Liver	Liver
25	chr14:37125000-37130800	Bivalent/Poised TSS	Thymus	Thymus
26	chr14:37125200-37125800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr14:37125200-37125800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:37125200-37125800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:37125200-37125800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:37125200-37125800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:37125200-37125800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
32	chr14:37125200-37125800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr14:37125200-37125800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
34	chr14:37125200-37125800	Enhancers	Gastric	stomach
35	chr14:37125200-37125800	Active TSS	A549	lung
36	chr14:37125200-37125800	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr14:37125200-37126000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr14:37125200-37126000	Bivalent/Poised TSS	NHEK	skin
39	chr14:37125200-37126200	Bivalent/Poised TSS	Esophagus	oesophagus
40	chr14:37125200-37126800	Bivalent Enhancer	Fetal Heart	heart
41	chr14:37125200-37126800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr14:37125200-37127200	Active TSS	Right Atrium	heart
43	chr14:37125200-37128000	Bivalent Enhancer	Fetal Brain Male	brain
44	chr14:37125400-37125800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:37125400-37125800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:37125400-37125800	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
47	chr14:37125400-37125800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
48	chr14:37125400-37125800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr14:37125400-37125800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr14:37125400-37126000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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