Variant report

Variant	rs72719128
Chromosome Location	chr14:67859204-67859205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67857879..67859653-chr14:67862774..67864465,2	MCF-7	breast:
2	chr14:67856643..67859316-chr14:67877802..67879915,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100558	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11539356	0.90[EUR][1000 genomes]
rs1813	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759756	0.97[ASN][1000 genomes]
rs45479091	0.90[EUR][1000 genomes]
rs45561936	0.90[EUR][1000 genomes]
rs57259066	0.90[ASN][1000 genomes]
rs58979599	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60541082	0.90[ASN][1000 genomes]
rs72717347	0.90[EUR][1000 genomes]
rs72717359	0.90[EUR][1000 genomes]
rs72717362	0.90[EUR][1000 genomes]
rs72717366	0.90[EUR][1000 genomes]
rs72717367	0.90[EUR][1000 genomes]
rs72717368	0.83[ASN][1000 genomes]
rs72717369	0.83[ASN][1000 genomes]
rs72717370	0.90[EUR][1000 genomes]
rs72717372	0.90[EUR][1000 genomes]
rs72717375	0.90[EUR][1000 genomes]
rs72717376	0.90[EUR][1000 genomes]
rs72717379	0.90[EUR][1000 genomes]
rs72717381	0.90[EUR][1000 genomes]
rs72717382	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72717383	0.90[EUR][1000 genomes]
rs72717385	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72717386	0.90[EUR][1000 genomes]
rs72717387	0.90[EUR][1000 genomes]
rs72717389	0.90[EUR][1000 genomes]
rs72717391	0.90[EUR][1000 genomes]
rs72717392	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72717393	0.90[EUR][1000 genomes]
rs72717397	0.90[EUR][1000 genomes]
rs72717398	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72717399	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717401	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719106	0.90[EUR][1000 genomes]
rs72719108	0.90[EUR][1000 genomes]
rs72719110	0.90[EUR][1000 genomes]
rs72719111	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719115	0.90[EUR][1000 genomes]
rs72719116	0.90[EUR][1000 genomes]
rs72719118	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719122	0.90[EUR][1000 genomes]
rs72719125	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719127	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719129	0.87[AMR][1000 genomes]
rs72719130	0.87[AMR][1000 genomes]
rs72719131	0.87[AMR][1000 genomes]
rs72719133	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72719134	0.87[AMR][1000 genomes]
rs72719137	0.87[AMR][1000 genomes]
rs72719138	0.87[AMR][1000 genomes]
rs72719140	0.87[AMR][1000 genomes]
rs72719142	0.87[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	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr14:67835200-67863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:67837600-67860800	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:67839600-67862400	Strong transcription	Fetal Intestine Large	intestine
5	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
6	chr14:67845600-67859400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
8	chr14:67849200-67860600	Strong transcription	Fetal Stomach	stomach
9	chr14:67849600-67864400	Weak transcription	Gastric	stomach
10	chr14:67850000-67862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:67850200-67878400	Weak transcription	Lung	lung
12	chr14:67850600-67859600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:67850600-67862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:67851000-67863200	Weak transcription	Fetal Lung	lung
15	chr14:67852000-67860200	Weak transcription	NHLF	lung
16	chr14:67852200-67862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:67852200-67863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:67852400-67862400	Weak transcription	HSMMtube	muscle
19	chr14:67852600-67862000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:67852800-67859400	Weak transcription	Pancreas	Pancrea
21	chr14:67852800-67863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:67852800-67865800	Strong transcription	HMEC	breast
23	chr14:67853200-67862600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:67853800-67862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:67853800-67864600	Strong transcription	Fetal Intestine Small	intestine
26	chr14:67854000-67861600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:67854000-67862400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:67854000-67863000	Weak transcription	HSMM	muscle
29	chr14:67854200-67861800	Weak transcription	HUVEC	blood vessel
30	chr14:67854200-67862600	Weak transcription	NH-A	brain
31	chr14:67854200-67864400	Weak transcription	Left Ventricle	heart
32	chr14:67854200-67872000	Weak transcription	Small Intestine	intestine
33	chr14:67854400-67863200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:67854600-67862600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:67855200-67861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:67855200-67863200	Weak transcription	A549	lung
37	chr14:67855200-67867400	Strong transcription	NHEK	skin
38	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:67856000-67861200	Enhancers	Fetal Thymus	thymus
40	chr14:67857000-67862000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr14:67857000-67862200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:67857200-67860000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:67857200-67860000	Enhancers	Placenta	Placenta
44	chr14:67858000-67859800	Enhancers	K562	blood
45	chr14:67858400-67860000	Enhancers	HepG2	liver
46	chr14:67858400-67860200	Strong transcription	Colonic Mucosa	Colon
47	chr14:67858600-67867400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:67858800-67859800	Enhancers	Spleen	Spleen
49	chr14:67858800-67861200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:67859200-67859600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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