Variant report

Variant	rs12471974
Chromosome Location	chr2:96010686-96010687
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:96010540-96010690	AG09319	gingival:	n/a	n/a
2	CTCF	chr2:96010600-96010750	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr2:96010540-96010690	GM12872	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96010652-96010702	SAEC	small airway:	n/a
2	chr2:96010652-96010702	NB4	blood:	n/a
3	chr2:96010652-96010702	AG04450	lung:	fetal
4	chr2:96010652-96010702	GM12892	blood:	n/a
5	chr2:96010652-96010702	AoSMC	blood vessel:	n/a
6	chr2:96010652-96010702	NHBE	bronchial:	n/a
7	chr2:96010652-96010702	BE2_C	brain:	n/a
8	chr2:96010652-96010702	AG10803	skin:	n/a
9	chr2:96010652-96010702	AG04449	skin:	fetal
10	chr2:96010652-96010702	SK-N-SH_RA	brain:	n/a
11	chr2:96010652-96010702	HNPCEpiC	eye:	n/a
12	chr2:96010652-96010702	SK-N-MC	brain:	n/a
13	chr2:96010652-96010702	HRE	kidney:	n/a
14	chr2:96010652-96010702	HIPEpiC	eye:	n/a
15	chr2:96010652-96010702	CMK	blood:	n/a
16	chr2:96010652-96010702	U87	brain:	n/a
17	chr2:96010652-96010702	HCF	heart:	n/a
18	chr2:96010652-96010702	PrEC	prostate:	n/a
19	chr2:96010652-96010702	Caco-2	colon:	n/a
20	chr2:96010652-96010702	ovcar-3	ovarian:	n/a
21	chr2:96010652-96010702	HAEpiC	amniotic membrane:	n/a
22	chr2:96010652-96010702	T-47D	breast:	n/a
23	chr2:96010652-96010702	HepG2	liver:	n/a
24	chr2:96010652-96010702	Hepatocyte	liver:	n/a
25	chr2:96010652-96010702	NT2-D1	testis:	n/a
26	chr2:96010652-96010702	HEK293	kidney:	embryo
27	chr2:96010652-96010702	BJ	skin:	n/a
28	chr2:96010652-96010702	Hela-S3	cervix:	n/a
29	chr2:96010652-96010702	NH-A	brain:	n/a
30	chr2:96010652-96010702	HRPEpiC	eye:	n/a
31	chr2:96010652-96010702	HCM	heart:	n/a
32	chr2:96010652-96010702	LNCaP	prostate:	n/a
33	chr2:96010652-96010702	GM06990	blood:	n/a
34	chr2:96010652-96010702	ECC-1	luminal epithelium:	n/a
35	chr2:96010652-96010702	HUVEC	blood vessel:	n/a
36	chr2:96010652-96010702	H1-hESC	embryonic stem cell:	embryo
37	chr2:96010652-96010702	NHDF-neo	bronchial:	n/a
38	chr2:96010652-96010702	HCT-116	colon:	n/a
39	chr2:96010652-96010702	MCF10A-Er-Src	breast:	n/a
40	chr2:96010652-96010702	GM19239	blood:	n/a
41	chr2:96010652-96010702	Jurkat	blood:	n/a
42	chr2:96010652-96010702	HEEpiC	esophagus:	n/a
43	chr2:96010652-96010702	HRCEpiC	kidney:	n/a
44	chr2:96010652-96010702	HCPEpiC	choroid plexus:	n/a
45	chr2:96010652-96010702	HL-60	blood:	n/a
46	chr2:96010652-96010702	K562	blood:	n/a
47	chr2:96010652-96010702	SKMC	muscle:	n/a
48	chr2:96010652-96010702	GM12891	blood:	n/a
49	chr2:96010652-96010702	RPTEC	kidney:	n/a
50	chr2:96010652-96010702	PANC-1	pancreas:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:95993761..95997355-chr2:96009051..96012049,3	K562	blood:
2	chr2:95936957..95940788-chr2:96009231..96012475,5	MCF-7	breast:
3	chr2:96009340..96011395-chr2:96014535..96017221,2	K562	blood:
4	chr2:95926758..95928320-chr2:96008890..96011843,2	K562	blood:
5	chr2:96004290..96007822-chr2:96008274..96011100,3	K562	blood:
6	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:

No data

Variant related genes	Relation type
KCNIP3	TF binding region
KCNIP3	CpG island
ENSG00000155066	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv582496	chr2:95999856-96020029	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv829578	chr2:96010192-96015186	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96008600-96011000	Enhancers	HMEC	breast
2	chr2:96008800-96011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:96009000-96011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:96009000-96011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:96009200-96011000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:96009200-96011200	Enhancers	NHEK	skin
7	chr2:96010000-96011400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:96010400-96010800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:96010400-96010800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:96010400-96010800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:96010400-96011000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:96010600-96011000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:96010600-96011000	Bivalent Enhancer	Fetal Kidney	kidney

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