Variant report

Variant	rs8019890
Chromosome Location	chr14:21538067-21538068
allele	A/C
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	CTCF	chr14:21537980-21538130	HCFaa	heart:	n/a	n/a
2	POLR2A	chr14:21537596-21538315	U87	brain:	n/a	n/a
3	RCOR1	chr14:21537731-21538147	HepG2	liver:	n/a	n/a
4	HDAC2	chr14:21537416-21539971	HepG2	liver:	n/a	n/a
5	JUND	chr14:21537551-21538118	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr14:21537952-21538473	SK-N-SH	brain:	n/a	n/a
7	ZBTB7A	chr14:21537683-21540277	ECC-1	luminal epithelium:	n/a	chr14:21538613-21538621 chr14:21538061-21538068
8	REST	chr14:21536555-21540236	H1-neurons	neurons:	n/a	chr14:21537270-21537288 chr14:21538446-21538455 chr14:21539665-21539678 chr14:21537275-21537288 chr14:21538419-21538432 chr14:21537085-21537098
9	REST	chr14:21537796-21538379	HepG2	liver:	n/a	n/a
10	TAF7	chr14:21537621-21538151	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:21537940-21538090	GM12864	blood:	n/a	n/a
12	POLR2A	chr14:21537917-21538184	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr14:21537450-21538796	SK-N-SH	brain:	n/a	n/a
14	MAX	chr14:21537553-21538427	SK-N-SH	brain:	n/a	chr14:21538216-21538226
15	EP300	chr14:21537748-21538182	HepG2	liver:	n/a	chr14:21537782-21537795
16	POLR2A	chr14:21537537-21540145	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:21538058-21539009	Hela-S3	cervix:	n/a	chr14:21538216-21538226
18	CEBPD	chr14:21538010-21538971	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:21537375-21539427	H1-neurons	neurons:	n/a	n/a
20	SIN3AK20	chr14:21537998-21538293	SK-N-SH	brain:	n/a	n/a
21	SMC3	chr14:21536425-21540907	SK-N-SH	brain:	n/a	chr14:21536769-21536783
22	ZBTB7A	chr14:21537974-21538646	K562	blood:	n/a	chr14:21538613-21538621 chr14:21538061-21538068
23	YY1	chr14:21537575-21538146	SK-N-SH_RA	brain:	n/a	n/a
24	HEY1	chr14:21537379-21540029	HepG2	liver:	n/a	chr14:21539871-21539886 chr14:21538539-21538554
25	CTCF	chr14:21538040-21538190	AG04449	skin:	n/a	n/a
26	MAZ	chr14:21536460-21541162	IMR90	lung:	n/a	chr14:21536927-21536936 chr14:21539487-21539497 chr14:21538216-21538226 chr14:21539744-21539754
27	SIN3A	chr14:21536683-21540315	H1-hESC	embryonic stem cell:	n/a	chr14:21538445-21538453
28	SMARCB1	chr14:21537834-21539946	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:21537496-21540066	HepG2	liver:	n/a	n/a
30	CHD1	chr14:21537728-21538097	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF7L2	chr14:21537958-21538805	HCT-116	colon:	n/a	n/a
32	CTCF	chr14:21537940-21538090	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr14:21537581-21538335	HepG2	liver:	n/a	n/a
34	TAF1	chr14:21537885-21539116	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr14:21537894-21538217	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:21537485-21539048	H1-neurons	neurons:	n/a	n/a
37	MAX	chr14:21537407-21538712	SK-N-SH	brain:	n/a	chr14:21538216-21538226
38	NFIC	chr14:21537639-21538244	HepG2	liver:	n/a	n/a
39	CTBP2	chr14:21536860-21538189	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:21538001-21538699	HepG2	liver:	n/a	n/a
41	HEY1	chr14:21537558-21539119	HepG2	liver:	n/a	chr14:21538539-21538554
42	TAF1	chr14:21537646-21538263	H1-neurons	neurons:	n/a	n/a
43	YY1	chr14:21537465-21540055	HepG2	liver:	n/a	chr14:21538431-21538445 chr14:21539743-21539752 chr14:21539740-21539751 chr14:21538995-21539007 chr14:21538399-21538413 chr14:21538401-21538410
44	MAX	chr14:21537778-21538739	A549	lung:	n/a	chr14:21538216-21538226
45	EP300	chr14:21537598-21538346	HepG2	liver:	n/a	chr14:21537782-21537795
46	POLR2A	chr14:21536820-21540229	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr14:21537427-21540226	HepG2	liver:	n/a	n/a
48	MAZ	chr14:21537668-21539034	HepG2	liver:	n/a	chr14:21538216-21538226
49	CTCF	chr14:21537940-21538090	A549	lung:	n/a	n/a
50	MYBL2	chr14:21536456-21539853	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
2	chr14:21537028..21541987-chr14:21553672..21557659,5	MCF-7	breast:
3	chr14:21529316..21532303-chr14:21535271..21538305,3	MCF-7	breast:
4	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
5	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
6	chr14:21535951..21540860-chr14:21573309..21578466,6	K562	blood:
7	chr14:21536330..21539100-chr14:21541107..21543539,3	K562	blood:
8	chr14:21537144..21539599-chr14:21542273..21545056,2	MCF-7	breast:
9	chr14:21537531..21539951-chr14:21850509..21852388,2	MCF-7	breast:
10	chr14:21536664..21539364-chr14:21541647..21545270,3	MCF-7	breast:
11	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:

Variant related genes	Relation type
ARHGEF40	TF binding region
ENSG00000178107	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000232070	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000165804	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1952151	0.95[GIH][hapmap];0.82[TSI][hapmap]
rs4982404	0.81[AMR][1000 genomes]
rs943991	0.95[GIH][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
2	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	117 gene(s)	inside rSNPs	diseases
4	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8019890	OR4K14	cis	cerebellum	SCAN
rs8019890	ANG	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21536600-21538200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:21536600-21538200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:21536600-21539600	Active TSS	Brain Cingulate Gyrus	brain
4	chr14:21536600-21540000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:21536800-21538200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:21536800-21538200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:21536800-21538200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
8	chr14:21536800-21538200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
9	chr14:21536800-21538200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:21536800-21538200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:21536800-21538200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:21536800-21538200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr14:21536800-21538200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr14:21536800-21538200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr14:21536800-21538200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr14:21536800-21538200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr14:21536800-21538200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr14:21536800-21538200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
19	chr14:21536800-21538200	Flanking Active TSS	Pancreas	Pancrea
20	chr14:21536800-21538200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr14:21536800-21538200	Flanking Active TSS	Right Ventricle	heart
22	chr14:21536800-21538200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr14:21536800-21538200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr14:21536800-21538200	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr14:21536800-21538200	Flanking Active TSS	NH-A	brain
26	chr14:21536800-21538400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:21536800-21538400	Flanking Active TSS	Liver	Liver
28	chr14:21536800-21538600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:21536800-21538600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr14:21536800-21540000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:21536800-21540200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:21536800-21540200	Active TSS	Aorta	Aorta
33	chr14:21536800-21540200	Active TSS	Fetal Kidney	kidney
34	chr14:21536800-21540400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:21536800-21540400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr14:21536800-21540600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:21537000-21538200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:21537000-21538200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr14:21537000-21538200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
40	chr14:21537000-21538200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:21537000-21538200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr14:21537000-21538200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr14:21537000-21538200	Flanking Active TSS	HSMM	muscle
44	chr14:21537000-21538200	Flanking Active TSS	NHLF	lung
45	chr14:21537000-21538200	Flanking Active TSS	Osteobl	bone
46	chr14:21537000-21538400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr14:21537000-21538600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:21537000-21539200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr14:21537000-21540000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr14:21537000-21540200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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