Variant report

Variant	rs531803543
Chromosome Location	chr14:67864518-67864519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
8	esv1815452	chr14:67862371-67866671	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1822467	chr14:67862371-67866671	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1843609	chr14:67862371-67866671	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
12	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
3	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
4	chr14:67850200-67878400	Weak transcription	Lung	lung
5	chr14:67852800-67865800	Strong transcription	HMEC	breast
6	chr14:67853800-67864600	Strong transcription	Fetal Intestine Small	intestine
7	chr14:67854200-67872000	Weak transcription	Small Intestine	intestine
8	chr14:67855200-67867400	Strong transcription	NHEK	skin
9	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:67858600-67867400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:67859600-67876600	Weak transcription	Esophagus	oesophagus
12	chr14:67859800-67866600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:67860000-67876400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:67860800-67878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:67861800-67864600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:67861800-67864600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:67862000-67876600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:67862400-67867000	Weak transcription	Colonic Mucosa	Colon
19	chr14:67862800-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:67863200-67864600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:67863200-67864800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:67863400-67864600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:67863400-67875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:67863600-67864800	Enhancers	Fetal Heart	heart
25	chr14:67863600-67867600	Weak transcription	HSMMtube	muscle
26	chr14:67863600-67868200	Weak transcription	Fetal Intestine Large	intestine
27	chr14:67864200-67864600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:67864200-67865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:67864200-67866600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:67864400-67864600	Enhancers	Left Ventricle	heart
31	chr14:67864400-67864600	Enhancers	Pancreas	Pancrea
32	chr14:67864400-67864600	Enhancers	Spleen	Spleen
33	chr14:67864400-67870200	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links