Variant report

Variant	rs17104482
Chromosome Location	chr14:68076874-68076875
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68076839-68076889	HUVEC	blood vessel:	n/a
2	chr14:68076839-68076889	IMR90	lung:	fetal
3	chr14:68076839-68076889	AG04449	skin:	fetal
4	chr14:68076839-68076889	AoSMC	blood vessel:	n/a
5	chr14:68076839-68076889	AG09309	skin:	n/a
6	chr14:68076839-68076889	BJ	skin:	n/a
7	chr14:68076839-68076889	MCF10A-Er-Src	breast:	n/a
8	chr14:68076839-68076889	HCF	heart:	n/a
9	chr14:68076839-68076889	HEK293	kidney:	embryo
10	chr14:68076839-68076889	AG09319	gingival:	n/a
11	chr14:68076839-68076889	ProgFib	skin:	n/a
12	chr14:68076839-68076889	AG10803	skin:	n/a
13	chr14:68076839-68076889	GM19239	blood:	n/a
14	chr14:68076839-68076889	LNCaP	prostate:	n/a
15	chr14:68076839-68076889	SKMC	muscle:	n/a
16	chr14:68076839-68076889	ECC-1	luminal epithelium:	n/a
17	chr14:68076839-68076889	GM12878	blood:	n/a
18	chr14:68076839-68076889	HRCEpiC	kidney:	n/a
19	chr14:68076839-68076889	H1-hESC	embryonic stem cell:	embryo
20	chr14:68076839-68076889	GM06990	blood:	n/a
21	chr14:68076839-68076889	HCT-116	colon:	n/a
22	chr14:68076839-68076889	HMEC	breast:	n/a
23	chr14:68076839-68076889	PFSK-1	brain:	n/a
24	chr14:68076839-68076889	CMK	blood:	n/a
25	chr14:68076839-68076889	T-47D	breast:	n/a
26	chr14:68076839-68076889	MCF-7	breast:	n/a
27	chr14:68076839-68076889	SAEC	small airway:	n/a
28	chr14:68076839-68076889	HIPEpiC	eye:	n/a
29	chr14:68076839-68076889	ovcar-3	ovarian:	n/a
30	chr14:68076839-68076889	Hela-S3	cervix:	n/a
31	chr14:68076839-68076889	K562	blood:	n/a
32	chr14:68076839-68076889	Jurkat	blood:	n/a
33	chr14:68076839-68076889	NH-A	brain:	n/a
34	chr14:68076839-68076889	HCPEpiC	choroid plexus:	n/a
35	chr14:68076839-68076889	NT2-D1	testis:	n/a
36	chr14:68076839-68076889	HepG2	liver:	n/a
37	chr14:68076839-68076889	SK-N-SH_RA	brain:	n/a
38	chr14:68076839-68076889	SK-N-SH	brain:	n/a
39	chr14:68076839-68076889	HEEpiC	esophagus:	n/a
40	chr14:68076839-68076889	NHDF-neo	bronchial:	n/a
41	chr14:68076839-68076889	GM12891	blood:	n/a
42	chr14:68076839-68076889	PrEC	prostate:	n/a
43	chr14:68076839-68076889	A549	lung:	n/a
44	chr14:68076839-68076889	NB4	blood:	n/a
45	chr14:68076839-68076889	RPTEC	kidney:	n/a
46	chr14:68076839-68076889	Hepatocyte	liver:	n/a
47	chr14:68076839-68076889	BE2_C	brain:	n/a
48	chr14:68076839-68076889	NHBE	bronchial:	n/a
49	chr14:68076839-68076889	U87	brain:	n/a
50	chr14:68076839-68076889	HRE	kidney:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68075056..68078713-chr14:68081163..68083960,3	K562	blood:
2	chr14:68075869..68077403-chr14:68140671..68142363,2	K562	blood:
3	chr14:68070149..68071743-chr14:68075491..68077430,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259648	CpG island
ENSG00000259502	CpG island
ENSG00000100568	Chromatin interaction
ENSG00000259648	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10131481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10131990	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10133414	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134090	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134923	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10135791	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10136482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10139933	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10140733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10141534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144907	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145465	0.96[AFR][1000 genomes]
rs10146550	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10146702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10150006	1.00[AFR][1000 genomes]
rs10150340	1.00[AFR][1000 genomes]
rs17104480	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17104486	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104488	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104495	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104501	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104512	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28368810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28449642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28457193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28547499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28549243	1.00[AMR][1000 genomes]
rs28575699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3742876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3759760	1.00[ASN][1000 genomes]
rs3759761	1.00[ASN][1000 genomes]
rs3759764	0.86[JPT][hapmap]
rs4899215	0.85[YRI][hapmap];0.90[AFR][1000 genomes]
rs7157923	0.86[JPT][hapmap]
rs7359109	0.86[JPT][hapmap]
rs8017597	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68074800-68077600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:68075000-68077200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr14:68075400-68077000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr14:68075400-68077400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr14:68075800-68077600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
6	chr14:68076000-68077200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr14:68076200-68077000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:68076200-68077600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr14:68076800-68077600	Bivalent Enhancer	HepG2	liver
10	chr14:68076800-68086200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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