Variant report

Variant	rs570122405
Chromosome Location	chr2:234525626-234525627
allele	C/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:0)
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	JUND	chr2:234525342-234525665	HepG2	liver:	n/a	chr2:234525488-234525497

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234525618-234525668	AoSMC	blood vessel:	n/a
2	chr2:234525618-234525668	HCPEpiC	choroid plexus:	n/a
3	chr2:234525618-234525668	Hepatocyte	liver:	n/a
4	chr2:234525618-234525668	AG09319	gingival:	n/a
5	chr2:234525618-234525668	HAEpiC	amniotic membrane:	n/a
6	chr2:234525618-234525668	HEK293	kidney:	embryo
7	chr2:234525618-234525668	HRE	kidney:	n/a
8	chr2:234525618-234525668	Jurkat	blood:	n/a
9	chr2:234525618-234525668	NH-A	brain:	n/a
10	chr2:234525618-234525668	LNCaP	prostate:	n/a
11	chr2:234525618-234525668	AG04450	lung:	fetal
12	chr2:234525618-234525668	NHDF-neo	bronchial:	n/a
13	chr2:234525618-234525668	ProgFib	skin:	n/a
14	chr2:234525618-234525668	GM12892	blood:	n/a
15	chr2:234525618-234525668	NB4	blood:	n/a
16	chr2:234525618-234525668	HL-60	blood:	n/a
17	chr2:234525618-234525668	GM12891	blood:	n/a
18	chr2:234525618-234525668	Caco-2	colon:	n/a
19	chr2:234525618-234525668	ECC-1	luminal epithelium:	n/a
20	chr2:234525618-234525668	SKMC	muscle:	n/a
21	chr2:234525618-234525668	AG04449	skin:	fetal
22	chr2:234525618-234525668	ovcar-3	ovarian:	n/a
23	chr2:234525618-234525668	SK-N-SH	brain:	n/a
24	chr2:234525618-234525668	SK-N-MC	brain:	n/a
25	chr2:234525618-234525668	NT2-D1	testis:	n/a
26	chr2:234525618-234525668	K562	blood:	n/a
27	chr2:234525618-234525668	GM19239	blood:	n/a
28	chr2:234525618-234525668	PrEC	prostate:	n/a
29	chr2:234525618-234525668	Hela-S3	cervix:	n/a
30	chr2:234525618-234525668	BE2_C	brain:	n/a
31	chr2:234525618-234525668	A549	lung:	n/a
32	chr2:234525618-234525668	HNPCEpiC	eye:	n/a
33	chr2:234525618-234525668	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:234525618-234525668	HUVEC	blood vessel:	n/a
35	chr2:234525618-234525668	MCF10A-Er-Src	breast:	n/a
36	chr2:234525618-234525668	HEEpiC	esophagus:	n/a
37	chr2:234525618-234525668	CMK	blood:	n/a
38	chr2:234525618-234525668	HepG2	liver:	n/a
39	chr2:234525618-234525668	HCF	heart:	n/a
40	chr2:234525618-234525668	SK-N-SH_RA	brain:	n/a
41	chr2:234525618-234525668	AG10803	skin:	n/a
42	chr2:234525618-234525668	NHBE	bronchial:	n/a
43	chr2:234525618-234525668	HMEC	breast:	n/a
44	chr2:234525618-234525668	PFSK-1	brain:	n/a
45	chr2:234525618-234525668	PANC-1	pancreas:	n/a
46	chr2:234525618-234525668	GM12878	blood:	n/a
47	chr2:234525618-234525668	SAEC	small airway:	n/a
48	chr2:234525618-234525668	MCF-7	breast:	n/a
49	chr2:234525618-234525668	HCT-116	colon:	n/a
50	chr2:234525618-234525668	AG09309	skin:	n/a

No data

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A8	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv3445986	chr2:234494952-234557707	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
5	nsv876014	chr2:234495742-234545861	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
6	esv3419326	chr2:234498411-234560470	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
7	esv2762307	chr2:234504523-234561979	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv1007561	chr2:234507291-234560670	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv536181	chr2:234507291-234560670	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3406377	chr2:234517448-234558127	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 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	chr2:234525600-234528200	Active TSS	Rectal Mucosa Donor 29	rectum

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