Variant report

Variant	rs149393745
Chromosome Location	chr2:96308288-96308289
allele	A/G
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	POLR2A	chr2:96307341-96308308	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96308242-96308292	A549	lung:	n/a
2	chr2:96308242-96308292	HEK293	kidney:	embryo
3	chr2:96308242-96308292	HUVEC	blood vessel:	n/a
4	chr2:96308242-96308292	PANC-1	pancreas:	n/a
5	chr2:96308242-96308292	AG04449	skin:	fetal
6	chr2:96308242-96308292	GM12892	blood:	n/a
7	chr2:96308242-96308292	Hela-S3	cervix:	n/a
8	chr2:96308242-96308292	GM12891	blood:	n/a
9	chr2:96308242-96308292	PFSK-1	brain:	n/a
10	chr2:96308242-96308292	NHBE	bronchial:	n/a
11	chr2:96308242-96308292	HCPEpiC	choroid plexus:	n/a
12	chr2:96308242-96308292	AG09309	skin:	n/a
13	chr2:96308242-96308292	ECC-1	luminal epithelium:	n/a
14	chr2:96308242-96308292	HCT-116	colon:	n/a
15	chr2:96308242-96308292	BE2_C	brain:	n/a
16	chr2:96308242-96308292	MCF10A-Er-Src	breast:	n/a
17	chr2:96308242-96308292	SK-N-SH_RA	brain:	n/a
18	chr2:96308242-96308292	HCM	heart:	n/a
19	chr2:96308242-96308292	HNPCEpiC	eye:	n/a
20	chr2:96308242-96308292	Caco-2	colon:	n/a
21	chr2:96308242-96308292	SAEC	small airway:	n/a
22	chr2:96308242-96308292	AoSMC	blood vessel:	n/a
23	chr2:96308242-96308292	HRPEpiC	eye:	n/a
24	chr2:96308242-96308292	SK-N-SH	brain:	n/a
25	chr2:96308242-96308292	RPTEC	kidney:	n/a
26	chr2:96308242-96308292	PrEC	prostate:	n/a
27	chr2:96308242-96308292	AG09319	gingival:	n/a
28	chr2:96308242-96308292	HIPEpiC	eye:	n/a
29	chr2:96308242-96308292	K562	blood:	n/a
30	chr2:96308242-96308292	HRCEpiC	kidney:	n/a
31	chr2:96308242-96308292	CMK	blood:	n/a
32	chr2:96308242-96308292	GM12878	blood:	n/a
33	chr2:96308242-96308292	HL-60	blood:	n/a
34	chr2:96308242-96308292	Jurkat	blood:	n/a
35	chr2:96308242-96308292	ovcar-3	ovarian:	n/a
36	chr2:96308242-96308292	ProgFib	skin:	n/a
37	chr2:96308242-96308292	SKMC	muscle:	n/a
38	chr2:96308242-96308292	AG10803	skin:	n/a
39	chr2:96308242-96308292	NT2-D1	testis:	n/a
40	chr2:96308242-96308292	HAEpiC	amniotic membrane:	n/a
41	chr2:96308242-96308292	MCF-7	breast:	n/a
42	chr2:96308242-96308292	HEEpiC	esophagus:	n/a
43	chr2:96308242-96308292	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:96308242-96308292	H1-hESC	embryonic stem cell:	embryo
45	chr2:96308242-96308292	T-47D	breast:	n/a
46	chr2:96308242-96308292	IMR90	lung:	fetal
47	chr2:96308242-96308292	U87	brain:	n/a
48	chr2:96308242-96308292	HepG2	liver:	n/a
49	chr2:96308242-96308292	GM06990	blood:	n/a
50	chr2:96308242-96308292	NB4	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000235959	TF binding region
ENSG00000236750	TF binding region
ENSG00000236750	CpG island
ENSG00000235959	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv998587	chr2:96170558-96378228	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv961830	chr2:96255256-96329560	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv834301	chr2:96285762-96427246	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv18352	chr2:96291856-96391581	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1002700	chr2:96296630-96422939	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96307400-96308400	Enhancers	Osteobl	bone
2	chr2:96307400-96308800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:96307800-96308600	Weak transcription	NHDF-Ad	bronchial
4	chr2:96308000-96308400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:96308200-96308400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:96308200-96308400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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