Variant report

Variant	rs12893668
Chromosome Location	chr14:104017793-104017794
allele	A/G
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	TCF12	chr14:104016711-104017848	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr14:104016616-104017806	ECC-1	luminal epithelium:	n/a	chr14:104016753-104016767 chr14:104016756-104016770 chr14:104016757-104016771 chr14:104016751-104016765
3	TCF12	chr14:104016677-104017999	ECC-1	luminal epithelium:	n/a	n/a
4	RAD21	chr14:104016935-104017794	ECC-1	luminal epithelium:	n/a	chr14:104017279-104017293
5	ZBTB7A	chr14:104016859-104017855	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr14:104016902-104017802	ECC-1	luminal epithelium:	n/a	n/a
7	ZBTB7A	chr14:104016978-104017879	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr14:104016948-104017987	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr14:104016971-104017904	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103799669..103802148-chr14:104015889..104018791,2	MCF-7	breast:
2	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:
3	chr14:103964170..103966734-chr14:104015429..104018902,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258851	TF binding region
ENSG00000100664	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000256053	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12147596	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12880077	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12880224	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12891360	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2021965	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2236281	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2296487	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2403194	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2756138	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34235720	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7140558	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7161305	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9324063	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	esv1819920	chr14:103989971-104018096	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv9170	chr14:103994260-104017971	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
18	esv1825092	chr14:104005264-104022171	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12893668	C14orf172	cis	multi-tissue	Pritchard

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104006000-104017800	Weak transcription	Aorta	Aorta
6	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
7	chr14:104009800-104023400	Weak transcription	Fetal Thymus	thymus
8	chr14:104010000-104017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:104010000-104023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:104010200-104023600	Weak transcription	Liver	Liver
11	chr14:104010400-104017800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:104010400-104023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:104011400-104025000	Weak transcription	Ovary	ovary
16	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:104011600-104018600	Weak transcription	Primary T cells from cord blood	blood
18	chr14:104013200-104022200	Weak transcription	Thymus	Thymus
19	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:104013400-104021800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:104013400-104023400	Weak transcription	Dnd41	blood
22	chr14:104013600-104020400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:104013600-104021200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:104013600-104021200	Weak transcription	Gastric	stomach
25	chr14:104013600-104023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:104013600-104023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:104013600-104023400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:104013600-104023600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:104013600-104024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:104013800-104024600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:104014400-104019200	Enhancers	Brain Substantia Nigra	brain
33	chr14:104014600-104023200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:104014800-104019200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:104015000-104018200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:104015000-104018600	Enhancers	Brain Germinal Matrix	brain
37	chr14:104015000-104019000	Enhancers	Brain Angular Gyrus	brain
38	chr14:104015200-104018000	Enhancers	Esophagus	oesophagus
39	chr14:104015400-104019200	Enhancers	Colonic Mucosa	Colon
40	chr14:104015400-104019600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr14:104015600-104017800	Enhancers	HMEC	breast
42	chr14:104015600-104018000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:104015600-104018200	Enhancers	Pancreas	Pancrea
44	chr14:104015600-104018800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr14:104015600-104019000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:104015600-104019400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr14:104015600-104021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:104015800-104019400	Genic enhancers	Fetal Stomach	stomach
49	chr14:104016000-104018200	Enhancers	Stomach Mucosa	stomach
50	chr14:104016000-104018800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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