Variant report

Variant	rs6573892
Chromosome Location	chr14:70040223-70040224
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	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
2	REST	chr14:70040120-70042029	H1-neurons	neurons:	n/a	chr14:70041308-70041317 chr14:70040123-70040141 chr14:70040122-70040142 chr14:70040518-70040531 chr14:70040126-70040139 chr14:70040129-70040142 chr14:70040122-70040142
3	MAX	chr14:70039860-70040367	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
2	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:

Variant related genes	Relation type
CCDC177	TF binding region
ENSG00000100650	Chromatin interaction
ENSG00000175985	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10145804	0.86[EUR][1000 genomes]
rs2025132	0.80[EUR][1000 genomes]
rs2025133	0.87[EUR][1000 genomes]
rs4899301	0.84[EUR][1000 genomes]
rs4899303	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899304	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899305	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4902734	0.84[EUR][1000 genomes]
rs4902738	0.80[EUR][1000 genomes]
rs4902739	0.83[EUR][1000 genomes]
rs55817110	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55923041	0.89[ASN][1000 genomes]
rs56249045	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56791796	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61980684	0.88[ASN][1000 genomes]
rs61980693	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61980724	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6573893	0.84[EUR][1000 genomes]
rs6573894	0.84[EUR][1000 genomes]
rs7140978	0.83[EUR][1000 genomes]
rs7147881	0.83[EUR][1000 genomes]
rs7494244	0.84[EUR][1000 genomes]
rs873176	0.81[ASN][1000 genomes]
rs927387	0.90[EUR][1000 genomes]
rs9788506	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv565003	chr14:70035500-70041193	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
2	nsv565004	chr14:70035500-70041363	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1824330	chr14:70037611-70042464	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv20393	chr14:70038588-70041438	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3339004	chr14:70038624-70041372	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	nsv565005	chr14:70039587-70040957	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv1835569	chr14:70039587-70041363	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	nsv565006	chr14:70039689-70040808	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
2	chr14:70038000-70040400	Enhancers	Liver	Liver
3	chr14:70038000-70040400	Weak transcription	Brain Angular Gyrus	brain
4	chr14:70038000-70040400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr14:70038000-70040400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr14:70038200-70040600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
7	chr14:70038200-70040600	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
9	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr14:70038400-70040800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:70039000-70041400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr14:70039200-70040800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:70039200-70041000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr14:70039200-70041200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr14:70039400-70040600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr14:70039400-70041000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr14:70039400-70041000	Bivalent Enhancer	Esophagus	oesophagus
18	chr14:70039400-70041200	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr14:70039400-70041200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr14:70039400-70041600	Enhancers	Gastric	stomach
21	chr14:70039400-70041600	Bivalent Enhancer	HUVEC	blood vessel
22	chr14:70039400-70045000	Weak transcription	Hela-S3	cervix
23	chr14:70039600-70040400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:70039600-70040400	Weak transcription	Aorta	Aorta
25	chr14:70039600-70041000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:70039600-70041000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
27	chr14:70039600-70041000	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr14:70039600-70041600	Enhancers	Pancreas	Pancrea
29	chr14:70039800-70040400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:70039800-70041000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:70040000-70040400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:70040000-70040400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:70040000-70040400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:70040000-70040400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr14:70040000-70040400	Flanking Active TSS	Psoas Muscle	Psoas
36	chr14:70040000-70040400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr14:70040000-70040600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr14:70040000-70040600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr14:70040000-70040600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:70040000-70040600	Flanking Active TSS	Fetal Brain Female	brain
41	chr14:70040000-70040800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr14:70040000-70041000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:70040000-70041000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
44	chr14:70040000-70041200	Active TSS	Right Atrium	heart
45	chr14:70040000-70041800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:70040200-70040400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr14:70040200-70040400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:70040200-70040400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr14:70040200-70040400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr14:70040200-70040400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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