Variant report

Variant	rs9800327
Chromosome Location	chr5:1850168-1850169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:1849032-1850301	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1850140-1850190	GM12878	blood:	n/a
2	chr5:1850140-1850190	NB4	blood:	n/a
3	chr5:1850140-1850190	MCF-7	breast:	n/a
4	chr5:1850140-1850190	HRPEpiC	eye:	n/a
5	chr5:1850140-1850190	RPTEC	kidney:	n/a
6	chr5:1850140-1850190	PANC-1	pancreas:	n/a
7	chr5:1850140-1850190	HL-60	blood:	n/a
8	chr5:1850140-1850190	AG09319	gingival:	n/a
9	chr5:1850140-1850190	Jurkat	blood:	n/a
10	chr5:1850140-1850190	GM12891	blood:	n/a
11	chr5:1850140-1850190	NT2-D1	testis:	n/a
12	chr5:1850140-1850190	HCT-116	colon:	n/a
13	chr5:1850140-1850190	H1-hESC	embryonic stem cell:	embryo
14	chr5:1850140-1850190	PFSK-1	brain:	n/a
15	chr5:1850140-1850190	HCM	heart:	n/a
16	chr5:1850140-1850190	Hela-S3	cervix:	n/a
17	chr5:1850140-1850190	ECC-1	luminal epithelium:	n/a
18	chr5:1850140-1850190	HPAEpiC	pulmonary alveolar:	n/a
19	chr5:1850140-1850190	SKMC	muscle:	n/a
20	chr5:1850140-1850190	HCF	heart:	n/a
21	chr5:1850140-1850190	AG10803	skin:	n/a
22	chr5:1850140-1850190	Caco-2	colon:	n/a
23	chr5:1850140-1850190	AG04449	skin:	fetal
24	chr5:1850140-1850190	NHDF-neo	bronchial:	n/a
25	chr5:1850140-1850190	GM06990	blood:	n/a
26	chr5:1850140-1850190	BJ	skin:	n/a
27	chr5:1850140-1850190	HIPEpiC	eye:	n/a
28	chr5:1850140-1850190	ProgFib	skin:	n/a
29	chr5:1850140-1850190	IMR90	lung:	fetal
30	chr5:1850140-1850190	SK-N-SH_RA	brain:	n/a
31	chr5:1850140-1850190	ovcar-3	ovarian:	n/a
32	chr5:1850140-1850190	T-47D	breast:	n/a
33	chr5:1850140-1850190	GM19239	blood:	n/a
34	chr5:1850140-1850190	SK-N-MC	brain:	n/a
35	chr5:1850140-1850190	HUVEC	blood vessel:	n/a
36	chr5:1850140-1850190	HEEpiC	esophagus:	n/a
37	chr5:1850140-1850190	BE2_C	brain:	n/a
38	chr5:1850140-1850190	SAEC	small airway:	n/a
39	chr5:1850140-1850190	NH-A	brain:	n/a
40	chr5:1850140-1850190	AG09309	skin:	n/a
41	chr5:1850140-1850190	A549	lung:	n/a
42	chr5:1850140-1850190	HMEC	breast:	n/a
43	chr5:1850140-1850190	HEK293	kidney:	embryo
44	chr5:1850140-1850190	HepG2	liver:	n/a
45	chr5:1850140-1850190	Hepatocyte	liver:	n/a
46	chr5:1850140-1850190	K562	blood:	n/a
47	chr5:1850140-1850190	HCPEpiC	choroid plexus:	n/a
48	chr5:1850140-1850190	HAEpiC	amniotic membrane:	n/a
49	chr5:1850140-1850190	GM12892	blood:	n/a
50	chr5:1850140-1850190	AoSMC	blood vessel:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1847823..1850458-chr5:1864953..1866669,2	MCF-7	breast:
2	chr5:1831927..1834401-chr5:1847567..1850200,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249966	TF binding region
ENSG00000249966	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9800304	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv461911	chr5:1820557-1855301	Strong transcription Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv596890	chr5:1820557-1855301	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv596891	chr5:1822326-1880891	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv880647	chr5:1822326-1880891	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv881619	chr5:1822326-1886471	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv596892	chr5:1832240-1892759	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv1019713	chr5:1833072-1884738	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv596893	chr5:1839498-1892759	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1018082	chr5:1849721-1884738	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1827600-1854000	Weak transcription	Right Atrium	heart
2	chr5:1843000-1851600	Weak transcription	Fetal Heart	heart
3	chr5:1846400-1851400	Weak transcription	Pancreas	Pancrea
4	chr5:1848800-1852400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:1849200-1855200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:1849600-1850200	Weak transcription	Spleen	Spleen
7	chr5:1850000-1850200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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