Variant report

Variant	rs8016348
Chromosome Location	chr14:104341201-104341202
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	POLR2A	chr14:104340456-104342640	HepG2	liver:	n/a	n/a
2	E2F6	chr14:104341102-104341225	K562	blood:	n/a	n/a
3	POLR2A	chr14:104341079-104341663	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104340678..104342509-chr14:104346127..104348373,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2134A5.2.1-2	chr14:104341055-104341377	NONHSAT040225

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

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1005542	0.85[CEU][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12588158	0.82[EUR][1000 genomes]
rs2887385	0.89[EUR][1000 genomes]
rs59415340	0.83[EUR][1000 genomes]
rs61995849	0.83[EUR][1000 genomes]
rs7146090	0.83[EUR][1000 genomes]
rs7146238	0.83[EUR][1000 genomes]
rs8010954	0.83[EUR][1000 genomes]
rs8018649	0.87[GIH][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8016348	C14orf79	cis	cerebellum	SCAN
rs8016348	RAGE	cis	cerebellum	SCAN
rs8016348	SIVA1	cis	parietal	SCAN
rs8016348	TDRD9	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104339000-104341400	Weak transcription	Gastric	stomach
2	chr14:104339200-104344400	Weak transcription	HepG2	liver
3	chr14:104339200-104345600	Weak transcription	A549	lung
4	chr14:104339200-104345800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:104339200-104346200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:104339200-104346200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:104339400-104341400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:104339400-104341600	Enhancers	Liver	Liver
9	chr14:104339400-104343600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:104339400-104345400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:104339400-104345600	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:104339400-104345800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:104339400-104345800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:104339400-104345800	Weak transcription	Colonic Mucosa	Colon
15	chr14:104339400-104345800	Weak transcription	Right Ventricle	heart
16	chr14:104339400-104346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:104339400-104346000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:104339400-104346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:104339400-104346000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:104339400-104346000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:104339400-104346000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:104339400-104346000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:104339600-104346000	Weak transcription	Primary T cells from cord blood	blood
24	chr14:104340000-104341600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr14:104340000-104343200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:104340000-104343600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:104340000-104345600	Weak transcription	Fetal Intestine Large	intestine
28	chr14:104340000-104345800	Weak transcription	Left Ventricle	heart
29	chr14:104340200-104343600	Weak transcription	Fetal Lung	lung
30	chr14:104340200-104344600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:104340200-104345600	Weak transcription	Fetal Intestine Small	intestine
32	chr14:104340200-104346000	Weak transcription	Placenta	Placenta
33	chr14:104340200-104346000	Weak transcription	Fetal Stomach	stomach
34	chr14:104340200-104346200	Weak transcription	Fetal Thymus	thymus
35	chr14:104340800-104341400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:104340800-104341600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:104340800-104341600	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:104341000-104341400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr14:104341000-104341400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:104341000-104341600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr14:104341000-104341600	Enhancers	Esophagus	oesophagus
42	chr14:104341000-104341600	Enhancers	Pancreas	Pancrea
43	chr14:104341000-104341600	Enhancers	Spleen	Spleen
44	chr14:104341000-104341600	Enhancers	GM12878-XiMat	blood
45	chr14:104341200-104341400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr14:104341200-104341600	Flanking Active TSS	Lung	lung
47	chr14:104341200-104341600	Enhancers	Stomach Mucosa	stomach
48	chr14:104341200-104341600	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links