Variant report

Variant	rs573010966
Chromosome Location	chr12:120423919-120423920
allele	A/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:2)
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	chr12:120423883-120423933	SAEC	small airway:	n/a
2	chr12:120423883-120423933	AG10803	skin:	n/a
3	chr12:120423883-120423933	HCM	heart:	n/a
4	chr12:120423883-120423933	AG04449	skin:	fetal
5	chr12:120423883-120423933	HUVEC	blood vessel:	n/a
6	chr12:120423883-120423933	PANC-1	pancreas:	n/a
7	chr12:120423883-120423933	SKMC	muscle:	n/a
8	chr12:120423883-120423933	Hela-S3	cervix:	n/a
9	chr12:120423883-120423933	BE2_C	brain:	n/a
10	chr12:120423883-120423933	HNPCEpiC	eye:	n/a
11	chr12:120423883-120423933	HRPEpiC	eye:	n/a
12	chr12:120423883-120423933	GM19239	blood:	n/a
13	chr12:120423883-120423933	RPTEC	kidney:	n/a
14	chr12:120423883-120423933	HCT-116	colon:	n/a
15	chr12:120423883-120423933	Hepatocyte	liver:	n/a
16	chr12:120423883-120423933	SK-N-SH	brain:	n/a
17	chr12:120423883-120423933	AG04450	lung:	fetal
18	chr12:120423883-120423933	GM12878	blood:	n/a
19	chr12:120423883-120423933	HEEpiC	esophagus:	n/a
20	chr12:120423883-120423933	GM12892	blood:	n/a
21	chr12:120423883-120423933	LNCaP	prostate:	n/a
22	chr12:120423883-120423933	AoSMC	blood vessel:	n/a
23	chr12:120423883-120423933	HAEpiC	amniotic membrane:	n/a
24	chr12:120423883-120423933	H1-hESC	embryonic stem cell:	embryo
25	chr12:120423883-120423933	PrEC	prostate:	n/a
26	chr12:120423883-120423933	HIPEpiC	eye:	n/a
27	chr12:120423883-120423933	Caco-2	colon:	n/a
28	chr12:120423883-120423933	HRCEpiC	kidney:	n/a
29	chr12:120423883-120423933	HEK293	kidney:	embryo
30	chr12:120423883-120423933	K562	blood:	n/a
31	chr12:120423883-120423933	CMK	blood:	n/a
32	chr12:120423883-120423933	IMR90	lung:	fetal
33	chr12:120423883-120423933	MCF-7	breast:	n/a
34	chr12:120423883-120423933	GM06990	blood:	n/a
35	chr12:120423883-120423933	HCPEpiC	choroid plexus:	n/a
36	chr12:120423883-120423933	A549	lung:	n/a
37	chr12:120423883-120423933	PFSK-1	brain:	n/a
38	chr12:120423883-120423933	ECC-1	luminal epithelium:	n/a
39	chr12:120423883-120423933	NH-A	brain:	n/a
40	chr12:120423883-120423933	SK-N-SH_RA	brain:	n/a
41	chr12:120423883-120423933	NHDF-neo	bronchial:	n/a
42	chr12:120423883-120423933	HMEC	breast:	n/a
43	chr12:120423883-120423933	AG09309	skin:	n/a
44	chr12:120423883-120423933	SK-N-MC	brain:	n/a
45	chr12:120423883-120423933	ProgFib	skin:	n/a
46	chr12:120423883-120423933	GM12891	blood:	n/a
47	chr12:120423883-120423933	NHBE	bronchial:	n/a
48	chr12:120423883-120423933	T-47D	breast:	n/a
49	chr12:120423883-120423933	ovcar-3	ovarian:	n/a
50	chr12:120423883-120423933	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120420772..120424084-chr12:120424860..120426963,3	MCF-7	breast:
2	chr12:120413777..120415664-chr12:120421623..120425591,4	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC64	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1805506	chr12:120419963-120427915	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	esv1819565	chr12:120419963-120427915	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv1830757	chr12:120419963-120427915	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1838328	chr12:120419963-120427915	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv1835423	chr12:120420670-120427915	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1841015	chr12:120420670-120427915	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv560399	chr12:120421825-120427177	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv560400	chr12:120421825-120427688	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv560401	chr12:120421825-120427915	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv560402	chr12:120423472-120427457	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv560403	chr12:120423472-120427862	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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