Variant report

Variant	rs10516368
Chromosome Location	chr4:20885254-20885255
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr4:20883834-20886184	SH-SY5Y	brain:	n/a	chr4:20885322-20885338 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885323-20885333
2	GATA3	chr4:20885165-20885507	SH-SY5Y	brain:	n/a	chr4:20885322-20885338 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885326-20885333 chr4:20885323-20885333

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:20885246-20885296	SK-N-MC	brain:	n/a
2	chr4:20885246-20885296	Caco-2	colon:	n/a
3	chr4:20885246-20885296	AG10803	skin:	n/a
4	chr4:20885246-20885296	HCT-116	colon:	n/a
5	chr4:20885246-20885296	H1-hESC	embryonic stem cell:	embryo
6	chr4:20885246-20885296	K562	blood:	n/a
7	chr4:20885246-20885296	HL-60	blood:	n/a
8	chr4:20885246-20885296	Jurkat	blood:	n/a
9	chr4:20885246-20885296	T-47D	breast:	n/a
10	chr4:20885246-20885296	ovcar-3	ovarian:	n/a
11	chr4:20885246-20885296	NHBE	bronchial:	n/a
12	chr4:20885246-20885296	SAEC	small airway:	n/a
13	chr4:20885246-20885296	NHDF-neo	bronchial:	n/a
14	chr4:20885246-20885296	MCF-7	breast:	n/a
15	chr4:20885246-20885296	NT2-D1	testis:	n/a
16	chr4:20885246-20885296	CMK	blood:	n/a
17	chr4:20885246-20885296	NH-A	brain:	n/a
18	chr4:20885246-20885296	GM12878	blood:	n/a
19	chr4:20885246-20885296	HAEpiC	amniotic membrane:	n/a
20	chr4:20885246-20885296	AG04449	skin:	fetal
21	chr4:20885246-20885296	AG04450	lung:	fetal
22	chr4:20885246-20885296	HIPEpiC	eye:	n/a
23	chr4:20885246-20885296	NB4	blood:	n/a
24	chr4:20885246-20885296	ProgFib	skin:	n/a
25	chr4:20885246-20885296	Hepatocyte	liver:	n/a
26	chr4:20885246-20885296	HCF	heart:	n/a
27	chr4:20885246-20885296	HNPCEpiC	eye:	n/a
28	chr4:20885246-20885296	GM06990	blood:	n/a
29	chr4:20885246-20885296	HEEpiC	esophagus:	n/a
30	chr4:20885246-20885296	HRE	kidney:	n/a
31	chr4:20885246-20885296	HCPEpiC	choroid plexus:	n/a
32	chr4:20885246-20885296	AoSMC	blood vessel:	n/a
33	chr4:20885246-20885296	AG09309	skin:	n/a
34	chr4:20885246-20885296	HEK293	kidney:	embryo
35	chr4:20885246-20885296	AG09319	gingival:	n/a
36	chr4:20885246-20885296	ECC-1	luminal epithelium:	n/a
37	chr4:20885246-20885296	GM12891	blood:	n/a
38	chr4:20885246-20885296	BE2_C	brain:	n/a
39	chr4:20885246-20885296	RPTEC	kidney:	n/a
40	chr4:20885246-20885296	PANC-1	pancreas:	n/a
41	chr4:20885246-20885296	SKMC	muscle:	n/a
42	chr4:20885246-20885296	GM19239	blood:	n/a
43	chr4:20885246-20885296	HCM	heart:	n/a
44	chr4:20885246-20885296	IMR90	lung:	fetal
45	chr4:20885246-20885296	SK-N-SH	brain:	n/a
46	chr4:20885246-20885296	PrEC	prostate:	n/a
47	chr4:20885246-20885296	HRPEpiC	eye:	n/a
48	chr4:20885246-20885296	A549	lung:	n/a
49	chr4:20885246-20885296	BJ	skin:	n/a
50	chr4:20885246-20885296	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
KCNIP4	TF binding region
KCNIP4	CpG island

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10516372	1.00[JPT][hapmap]
rs10516373	1.00[JPT][hapmap]
rs10938820	1.00[JPT][hapmap]
rs11931507	1.00[JPT][hapmap]
rs11946257	1.00[JPT][hapmap]
rs12639782	1.00[JPT][hapmap]
rs12642219	1.00[JPT][hapmap]
rs12643593	1.00[JPT][hapmap]
rs12645600	1.00[JPT][hapmap]
rs12647136	1.00[JPT][hapmap]
rs12647761	1.00[JPT][hapmap]
rs12648562	1.00[JPT][hapmap]
rs12649754	1.00[JPT][hapmap]
rs12650301	1.00[JPT][hapmap]
rs12650955	1.00[JPT][hapmap]
rs13143622	1.00[JPT][hapmap]
rs1388319	0.89[ASN][1000 genomes]
rs1434954	1.00[JPT][hapmap]
rs1434955	1.00[JPT][hapmap]
rs1491371	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16870186	1.00[JPT][hapmap]
rs16870225	1.00[JPT][hapmap]
rs16870226	1.00[JPT][hapmap]
rs16870239	1.00[JPT][hapmap]
rs16870246	1.00[JPT][hapmap]
rs1988092	1.00[JPT][hapmap]
rs41389548	1.00[JPT][hapmap]
rs4235287	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4499695	1.00[JPT][hapmap]
rs6834010	1.00[JPT][hapmap]
rs6834492	1.00[JPT][hapmap]
rs6836818	1.00[JPT][hapmap]
rs6856054	1.00[JPT][hapmap]
rs7340882	1.00[JPT][hapmap]
rs7660907	1.00[JPT][hapmap]
rs7675477	1.00[JPT][hapmap]
rs7676308	1.00[JPT][hapmap]
rs7676475	1.00[JPT][hapmap]
rs7678620	1.00[JPT][hapmap]

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	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv829877	chr4:20847465-20992544	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1803304	chr4:20853243-20934396	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1808703	chr4:20853243-20934396	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20883600-20887000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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