Variant report

Variant	rs17104874
Chromosome Location	chr14:37125040-37125041
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	GATA3	chr14:37124966-37125815	MCF-7	breast:	n/a	chr14:37125495-37125504
3	CTCF	chr14:37124980-37125583	HCT-116	colon:	n/a	chr14:37125235-37125251 chr14:37124981-37124990 chr14:37125236-37125257
4	CTCF	chr14:37124966-37125861	HCT-116	colon:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
5	RAD21	chr14:37124931-37125899	MCF-7	breast:	n/a	chr14:37125207-37125219 chr14:37124981-37124994
6	CTCF	chr14:37124858-37125853	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
7	YY1	chr14:37125006-37125544	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:37124839-37125932	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
9	RAD21	chr14:37125017-37125818	A549	lung:	n/a	chr14:37125207-37125219
10	SP1	chr14:37124955-37125431	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:37125038-37125095	GM20000	blood:	n/a	n/a
12	ELF1	chr14:37124889-37125849	MCF-7	breast:	n/a	n/a
13	RAD21	chr14:37124957-37125803	H1-hESC	embryonic stem cell:	n/a	chr14:37125207-37125219 chr14:37124981-37124994
14	CTBP2	chr14:37124967-37126256	H1-hESC	embryonic stem cell:	n/a	n/a
15	SUZ12	chr14:37123241-37129363	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr14:37125007-37125866	A549	lung:	n/a	n/a
17	E2F6	chr14:37124991-37125827	A549	lung:	n/a	chr14:37125300-37125307 chr14:37125300-37125307 chr14:37125300-37125307
18	CTCF	chr14:37124984-37125720	HepG2	liver:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
19	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
20	ATF2	chr14:37124989-37125408	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF2	chr14:37125038-37125333	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF12	chr14:37124968-37125619	A549	lung:	n/a	chr14:37125258-37125265
23	BACH1	chr14:37124502-37125731	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr14:37125036-37125502	H1-hESC	embryonic stem cell:	n/a	chr14:37125258-37125265
25	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
26	MAX	chr14:37124931-37125883	A549	lung:	n/a	n/a
27	TBP	chr14:37125022-37125713	H1-hESC	embryonic stem cell:	n/a	chr14:37125131-37125142
28	CTCF	chr14:37125003-37125744	H1-hESC	embryonic stem cell:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
29	CTCF	chr14:37125023-37125721	A549	lung:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37125236-37125257 chr14:37125570-37125588
30	CTCF	chr14:37124958-37125822	MCF-7	breast:	n/a	chr14:37125235-37125251 chr14:37125565-37125586 chr14:37124981-37124990 chr14:37125236-37125257 chr14:37125570-37125588
31	MAX	chr14:37125007-37125828	MCF-7	breast:	n/a	n/a
32	RAD21	chr14:37124956-37125837	HCT-116	colon:	n/a	chr14:37125207-37125219 chr14:37124981-37124994

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37125004-37125054	LNCaP	prostate:	n/a
2	chr14:37125004-37125054	PANC-1	pancreas:	n/a
3	chr14:37125004-37125054	AG04449	skin:	fetal
4	chr14:37125004-37125054	HCF	heart:	n/a
5	chr14:37125004-37125054	IMR90	lung:	fetal
6	chr14:37125004-37125054	HIPEpiC	eye:	n/a
7	chr14:37125004-37125054	NT2-D1	testis:	n/a
8	chr14:37125004-37125054	U87	brain:	n/a
9	chr14:37125004-37125054	ovcar-3	ovarian:	n/a
10	chr14:37125004-37125054	AG09309	skin:	n/a
11	chr14:37125004-37125054	SK-N-SH_RA	brain:	n/a
12	chr14:37125004-37125054	HCM	heart:	n/a
13	chr14:37125004-37125054	SKMC	muscle:	n/a
14	chr14:37125004-37125054	NH-A	brain:	n/a
15	chr14:37125004-37125054	MCF10A-Er-Src	breast:	n/a
16	chr14:37125004-37125054	GM19239	blood:	n/a
17	chr14:37125004-37125054	GM12892	blood:	n/a
18	chr14:37125004-37125054	AG09319	gingival:	n/a
19	chr14:37125004-37125054	Hela-S3	cervix:	n/a
20	chr14:37125004-37125054	GM12878	blood:	n/a
21	chr14:37125004-37125054	AoSMC	blood vessel:	n/a
22	chr14:37125004-37125054	HRCEpiC	kidney:	n/a
23	chr14:37125004-37125054	T-47D	breast:	n/a
24	chr14:37125004-37125054	GM06990	blood:	n/a
25	chr14:37125004-37125054	HL-60	blood:	n/a
26	chr14:37125004-37125054	H1-hESC	embryonic stem cell:	embryo
27	chr14:37125004-37125054	A549	lung:	n/a
28	chr14:37125004-37125054	HCT-116	colon:	n/a
29	chr14:37125004-37125054	HMEC	breast:	n/a
30	chr14:37125004-37125054	HAEpiC	amniotic membrane:	n/a
31	chr14:37125004-37125054	HCPEpiC	choroid plexus:	n/a
32	chr14:37125004-37125054	HRE	kidney:	n/a
33	chr14:37125004-37125054	BJ	skin:	n/a
34	chr14:37125004-37125054	AG10803	skin:	n/a
35	chr14:37125004-37125054	AG04450	lung:	fetal
36	chr14:37125004-37125054	Hepatocyte	liver:	n/a
37	chr14:37125004-37125054	Caco-2	colon:	n/a
38	chr14:37125004-37125054	HepG2	liver:	n/a
39	chr14:37125004-37125054	SK-N-MC	brain:	n/a
40	chr14:37125004-37125054	HNPCEpiC	eye:	n/a
41	chr14:37125004-37125054	MCF-7	breast:	n/a
42	chr14:37125004-37125054	NB4	blood:	n/a
43	chr14:37125004-37125054	CMK	blood:	n/a
44	chr14:37125004-37125054	K562	blood:	n/a
45	chr14:37125004-37125054	HPAEpiC	pulmonary alveolar:	n/a
46	chr14:37125004-37125054	PFSK-1	brain:	n/a
47	chr14:37125004-37125054	BE2_C	brain:	n/a
48	chr14:37125004-37125054	RPTEC	kidney:	n/a
49	chr14:37125004-37125054	HRPEpiC	eye:	n/a
50	chr14:37125004-37125054	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37123611..37125752-chr14:37131766..37134871,3	K562	blood:
2	chr14:37123859..37125533-chr14:37132876..37135403,2	MCF-7	breast:
3	chr14:37124823..37125996-chr14:37445069..37445745,4	MCF-7	breast:
4	chr14:37124767..37125644-chr14:37411238..37412049,2	MCF-7	breast:
5	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
6	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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1018464	0.92[YRI][hapmap]
rs17104895	0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104897	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104914	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17104923	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1983667	0.92[EUR][1000 genomes]
rs1983668	0.92[EUR][1000 genomes]
rs2207533	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57054117	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59964817	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7143727	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148541	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154983	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7158515	0.85[EUR][1000 genomes]
rs73253986	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73253992	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73253995	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73258616	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73260198	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73260505	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73262314	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73262323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8003719	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8009345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][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:64 , 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	chr14:37123400-37125400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr14:37123400-37130800	Bivalent/Poised TSS	Fetal Thymus	thymus
4	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:37123600-37125200	Bivalent Enhancer	Adipose Nuclei	Adipose
6	chr14:37123600-37125400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
7	chr14:37123600-37126400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr14:37123600-37128200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr14:37123800-37126400	Bivalent Enhancer	Left Ventricle	heart
10	chr14:37123800-37128000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr14:37124000-37125200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
12	chr14:37124000-37125400	Bivalent Enhancer	Brain Hippocampus Middle	brain
13	chr14:37124000-37126200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:37124000-37126400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr14:37124200-37125200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
16	chr14:37124200-37125200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:37124200-37126400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr14:37124200-37126800	Enhancers	Pancreas	Pancrea
19	chr14:37124400-37125200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:37124400-37125200	Bivalent Enhancer	Esophagus	oesophagus
21	chr14:37124400-37125400	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr14:37124400-37125600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:37124400-37127200	Bivalent Enhancer	Placenta	Placenta
24	chr14:37124600-37125200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:37124600-37125200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:37124800-37125200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:37124800-37125200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:37124800-37125200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:37124800-37125200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:37124800-37125200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
31	chr14:37124800-37125200	Flanking Active TSS	A549	lung
32	chr14:37124800-37125200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr14:37124800-37125400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr14:37124800-37125400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:37124800-37125400	Bivalent Enhancer	Brain Substantia Nigra	brain
36	chr14:37124800-37125400	Bivalent Enhancer	Fetal Stomach	stomach
37	chr14:37124800-37125400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr14:37124800-37125600	Bivalent Enhancer	Small Intestine	intestine
39	chr14:37124800-37125800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr14:37124800-37125800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:37124800-37125800	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr14:37124800-37126000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr14:37124800-37126000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr14:37124800-37126200	Bivalent Enhancer	Fetal Brain Female	brain
45	chr14:37124800-37126400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:37125000-37125200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:37125000-37125200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr14:37125000-37125200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr14:37125000-37125200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:37125000-37125200	Bivalent Enhancer	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links