Variant report

Variant	rs8016475
Chromosome Location	chr14:104388590-104388591
allele	G/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:5)
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	MXI1	chr14:104387090-104388629	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104388553-104388603	MCF-7	breast:	n/a
2	chr14:104388553-104388603	CMK	blood:	n/a
3	chr14:104388553-104388603	IMR90	lung:	fetal
4	chr14:104388553-104388603	PrEC	prostate:	n/a
5	chr14:104388553-104388603	AG04450	lung:	fetal
6	chr14:104388553-104388603	AG04449	skin:	fetal
7	chr14:104388553-104388603	U87	brain:	n/a
8	chr14:104388553-104388603	HUVEC	blood vessel:	n/a
9	chr14:104388553-104388603	SK-N-MC	brain:	n/a
10	chr14:104388553-104388603	NHBE	bronchial:	n/a
11	chr14:104388553-104388603	PFSK-1	brain:	n/a
12	chr14:104388553-104388603	GM12878	blood:	n/a
13	chr14:104388553-104388603	GM06990	blood:	n/a
14	chr14:104388553-104388603	HL-60	blood:	n/a
15	chr14:104388553-104388603	BJ	skin:	n/a
16	chr14:104388553-104388603	HCT-116	colon:	n/a
17	chr14:104388553-104388603	A549	lung:	n/a
18	chr14:104388553-104388603	HEEpiC	esophagus:	n/a
19	chr14:104388553-104388603	BE2_C	brain:	n/a
20	chr14:104388553-104388603	SK-N-SH	brain:	n/a
21	chr14:104388553-104388603	HCPEpiC	choroid plexus:	n/a
22	chr14:104388553-104388603	HRCEpiC	kidney:	n/a
23	chr14:104388553-104388603	HRPEpiC	eye:	n/a
24	chr14:104388553-104388603	Hepatocyte	liver:	n/a
25	chr14:104388553-104388603	ECC-1	luminal epithelium:	n/a
26	chr14:104388553-104388603	SKMC	muscle:	n/a
27	chr14:104388553-104388603	HIPEpiC	eye:	n/a
28	chr14:104388553-104388603	NHDF-neo	bronchial:	n/a
29	chr14:104388553-104388603	AG09319	gingival:	n/a
30	chr14:104388553-104388603	HNPCEpiC	eye:	n/a
31	chr14:104388553-104388603	GM19239	blood:	n/a
32	chr14:104388553-104388603	NB4	blood:	n/a
33	chr14:104388553-104388603	HRE	kidney:	n/a
34	chr14:104388553-104388603	HEK293	kidney:	embryo
35	chr14:104388553-104388603	PANC-1	pancreas:	n/a
36	chr14:104388553-104388603	Jurkat	blood:	n/a
37	chr14:104388553-104388603	NT2-D1	testis:	n/a
38	chr14:104388553-104388603	LNCaP	prostate:	n/a
39	chr14:104388553-104388603	HCF	heart:	n/a
40	chr14:104388553-104388603	GM12892	blood:	n/a
41	chr14:104388553-104388603	MCF10A-Er-Src	breast:	n/a
42	chr14:104388553-104388603	ProgFib	skin:	n/a
43	chr14:104388553-104388603	HepG2	liver:	n/a
44	chr14:104388553-104388603	GM12891	blood:	n/a
45	chr14:104388553-104388603	H1-hESC	embryonic stem cell:	embryo
46	chr14:104388553-104388603	Caco-2	colon:	n/a
47	chr14:104388553-104388603	NH-A	brain:	n/a
48	chr14:104388553-104388603	HMEC	breast:	n/a
49	chr14:104388553-104388603	HCM	heart:	n/a
50	chr14:104388553-104388603	SK-N-SH_RA	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104380212..104384984-chr14:104386073..104389493,7	MCF-7	breast:
2	chr14:104382782..104384998-chr14:104387935..104389559,2	K562	blood:
3	chr14:104387945..104390196-chr14:104396396..104397958,2	MCF-7	breast:
4	chr14:104385710..104388983-chr14:104393675..104397966,4	MCF-7	breast:
5	chr14:104387889..104389624-chr14:104583359..104585962,2	MCF-7	breast:

No data

Variant related genes	Relation type
C14orf2	TF binding region
C14orf2	CpG island
ENSG00000156411	Chromatin interaction
ENSG00000207568	Chromatin interaction
ENSG00000156414	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs28570451	0.82[AFR][1000 genomes]
rs28576742	0.90[AFR][1000 genomes]
rs28612170	0.84[AFR][1000 genomes]
rs6576000	1.00[EUR][1000 genomes]
rs6576011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143553	1.00[EUR][1000 genomes]
rs7143676	1.00[EUR][1000 genomes]
rs7144187	1.00[EUR][1000 genomes]
rs7145523	1.00[EUR][1000 genomes]
rs7145879	1.00[EUR][1000 genomes]
rs7149867	1.00[EUR][1000 genomes]
rs7150741	1.00[EUR][1000 genomes]
rs7151380	1.00[EUR][1000 genomes]
rs7153756	1.00[EUR][1000 genomes]
rs7159709	1.00[EUR][1000 genomes]
rs74089106	1.00[EUR][1000 genomes]
rs8006215	1.00[EUR][1000 genomes]
rs8007542	1.00[EUR][1000 genomes]
rs8020922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
6	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
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104387400-104388600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:104388200-104390000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr14:104388200-104390200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:104388200-104392000	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:104388200-104393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104388400-104388600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:104388400-104388600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr14:104388400-104388600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr14:104388400-104388600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr14:104388400-104389400	Weak transcription	K562	blood
11	chr14:104388400-104389600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:104388400-104389600	Weak transcription	Placenta	Placenta
13	chr14:104388400-104389800	Weak transcription	Fetal Heart	heart
14	chr14:104388400-104389800	Weak transcription	HUVEC	blood vessel
15	chr14:104388400-104390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:104388400-104390000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:104388400-104390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:104388400-104390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:104388400-104390000	Weak transcription	Liver	Liver
20	chr14:104388400-104391600	Weak transcription	HepG2	liver
21	chr14:104388400-104392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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