Variant report

Variant	rs8010954
Chromosome Location	chr14:104347513-104347514
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	HDAC2	chr14:104347513-104348139	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:104345725-104348072	HepG2	liver:	n/a	n/a
3	HEY1	chr14:104345976-104348103	HepG2	liver:	n/a	n/a
4	MXI1	chr14:104347413-104348248	SK-N-SH	brain:	n/a	chr14:104347853-104347862
5	POLR2A	chr14:104345627-104348172	HepG2	liver:	n/a	n/a
6	MBD4	chr14:104347484-104348092	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:104347441-104347848	HepG2	liver:	n/a	n/a
8	MAFF	chr14:104346211-104347869	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:104345610-104348188	HepG2	liver:	n/a	n/a
10	MYBL2	chr14:104347356-104348104	HepG2	liver:	n/a	n/a
11	HEY1	chr14:104345577-104348187	HepG2	liver:	n/a	n/a
12	MAFK	chr14:104347096-104347727	HepG2	liver:	n/a	chr14:104347288-104347308
13	POLR2A	chr14:104345303-104348333	HepG2	liver:	n/a	n/a
14	MAX	chr14:104345601-104348317	HepG2	liver:	n/a	chr14:104346907-104346922 chr14:104346187-104346198 chr14:104347852-104347861 chr14:104347852-104347861 chr14:104347851-104347862 chr14:104346908-104346919 chr14:104346187-104346198 chr14:104347853-104347860 chr14:104347851-104347862 chr14:104347852-104347862 chr14:104346908-104346918 chr14:104346909-104346918 chr14:104346905-104346920 chr14:104347396-104347406 chr14:104347014-104347024 chr14:104346910-104346917
15	BHLHE40	chr14:104345769-104348105	HepG2	liver:	n/a	n/a
16	MAFK	chr14:104345840-104347883	HepG2	liver:	n/a	chr14:104346947-104346964 chr14:104347288-104347308
17	MAX	chr14:104345565-104348374	HepG2	liver:	n/a	chr14:104346907-104346922 chr14:104346187-104346198 chr14:104347852-104347861 chr14:104347852-104347861 chr14:104347851-104347862 chr14:104346908-104346919 chr14:104346187-104346198 chr14:104347853-104347860 chr14:104347851-104347862 chr14:104347852-104347862 chr14:104346908-104346918 chr14:104346909-104346918 chr14:104346905-104346920 chr14:104347396-104347406 chr14:104347014-104347024 chr14:104346910-104346917
18	POLR2A	chr14:104345854-104348110	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104320208..104324271-chr14:104346660..104350133,4	MCF-7	breast:
2	chr14:104340678..104342509-chr14:104346127..104348373,2	MCF-7	breast:
3	chr14:104347054..104348741-chr14:104350069..104352618,2	K562	blood:
4	chr14:104319613..104324063-chr14:104346589..104349290,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258534	TF binding region
ENSG00000258914	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10144862	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145537	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10873540	0.94[ASN][1000 genomes]
rs11160768	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588158	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12884940	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17101891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1885073	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28569774	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5018062	0.84[ASN][1000 genomes]
rs57639232	0.97[ASN][1000 genomes]
rs59415340	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995849	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61995855	0.95[ASN][1000 genomes]
rs7146090	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146238	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8009053	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8009235	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8016348	0.83[EUR][1000 genomes]
rs8018649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv1800828	chr14:104343852-104351500	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104344600-104349800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:104345400-104347600	Flanking Active TSS	Liver	Liver
3	chr14:104345600-104349800	Enhancers	Fetal Muscle Leg	muscle
4	chr14:104345800-104347800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr14:104345800-104348000	Enhancers	Fetal Kidney	kidney
6	chr14:104345800-104349600	Enhancers	Left Ventricle	heart
7	chr14:104345800-104349800	Enhancers	Esophagus	oesophagus
8	chr14:104345800-104349800	Enhancers	Right Ventricle	heart
9	chr14:104346000-104347600	Enhancers	Primary hematopoietic stem cells	blood
10	chr14:104346000-104347600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:104346000-104347600	Flanking Active TSS	Colonic Mucosa	Colon
12	chr14:104346000-104347800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104346000-104348000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:104346000-104348000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:104346000-104348200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:104346000-104348400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:104346000-104348800	Enhancers	HUVEC	blood vessel
18	chr14:104346000-104349200	Enhancers	Fetal Heart	heart
19	chr14:104346000-104349200	Enhancers	Spleen	Spleen
20	chr14:104346000-104349400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:104346000-104349800	Enhancers	Placenta	Placenta
22	chr14:104346000-104350000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:104346200-104347600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:104346200-104347600	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr14:104346200-104347600	Enhancers	Fetal Brain Male	brain
26	chr14:104346200-104347600	Enhancers	NHLF	lung
27	chr14:104346200-104347800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr14:104346200-104348000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:104346200-104348200	Enhancers	Psoas Muscle	Psoas
30	chr14:104346400-104349800	Enhancers	Lung	lung
31	chr14:104346400-104350000	Enhancers	Pancreas	Pancrea
32	chr14:104346600-104347600	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr14:104346600-104347600	Flanking Active TSS	Fetal Lung	lung
34	chr14:104346600-104348200	Enhancers	Brain Angular Gyrus	brain
35	chr14:104346600-104348400	Flanking Active TSS	HepG2	liver
36	chr14:104346600-104352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:104346800-104347600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:104346800-104347600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr14:104346800-104347600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:104346800-104347600	Enhancers	Fetal Brain Female	brain
41	chr14:104346800-104347800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:104346800-104347800	Enhancers	HSMMtube	muscle
43	chr14:104346800-104348000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:104346800-104348000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr14:104346800-104349800	Enhancers	Fetal Intestine Large	intestine
46	chr14:104346800-104349800	Enhancers	Gastric	stomach
47	chr14:104346800-104352600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:104347000-104347600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:104347000-104347600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:104347000-104347600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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