Variant report

Variant	rs144631327
Chromosome Location	chr2:56410082-56410083
allele	A/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:0)
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	POLR2A	chr2:56408936-56411912	K562	blood:	n/a	n/a
2	POLR2A	chr2:56409791-56410191	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:56410080-56410230	GM12865	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56410071-56410121	GM12892	blood:	n/a
2	chr2:56410071-56410121	SAEC	small airway:	n/a
3	chr2:56410071-56410121	AG09309	skin:	n/a
4	chr2:56410071-56410121	HIPEpiC	eye:	n/a
5	chr2:56410071-56410121	ECC-1	luminal epithelium:	n/a
6	chr2:56410071-56410121	AG04450	lung:	fetal
7	chr2:56410071-56410121	GM19239	blood:	n/a
8	chr2:56410071-56410121	HCT-116	colon:	n/a
9	chr2:56410071-56410121	U87	brain:	n/a
10	chr2:56410071-56410121	NHBE	bronchial:	n/a
11	chr2:56410071-56410121	H1-hESC	embryonic stem cell:	embryo
12	chr2:56410071-56410121	SKMC	muscle:	n/a
13	chr2:56410071-56410121	PFSK-1	brain:	n/a
14	chr2:56410071-56410121	GM12878	blood:	n/a
15	chr2:56410071-56410121	HepG2	liver:	n/a
16	chr2:56410071-56410121	AoSMC	blood vessel:	n/a
17	chr2:56410071-56410121	HCPEpiC	choroid plexus:	n/a
18	chr2:56410071-56410121	K562	blood:	n/a
19	chr2:56410071-56410121	MCF-7	breast:	n/a
20	chr2:56410071-56410121	T-47D	breast:	n/a
21	chr2:56410071-56410121	RPTEC	kidney:	n/a
22	chr2:56410071-56410121	HCF	heart:	n/a
23	chr2:56410071-56410121	ovcar-3	ovarian:	n/a
24	chr2:56410071-56410121	MCF10A-Er-Src	breast:	n/a
25	chr2:56410071-56410121	PrEC	prostate:	n/a
26	chr2:56410071-56410121	HL-60	blood:	n/a
27	chr2:56410071-56410121	HUVEC	blood vessel:	n/a
28	chr2:56410071-56410121	NH-A	brain:	n/a
29	chr2:56410071-56410121	ProgFib	skin:	n/a
30	chr2:56410071-56410121	HCM	heart:	n/a
31	chr2:56410071-56410121	AG04449	skin:	fetal
32	chr2:56410071-56410121	NHDF-neo	bronchial:	n/a
33	chr2:56410071-56410121	HNPCEpiC	eye:	n/a
34	chr2:56410071-56410121	GM12891	blood:	n/a
35	chr2:56410071-56410121	IMR90	lung:	fetal
36	chr2:56410071-56410121	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:56410071-56410121	BE2_C	brain:	n/a
38	chr2:56410071-56410121	PANC-1	pancreas:	n/a
39	chr2:56410071-56410121	GM06990	blood:	n/a
40	chr2:56410071-56410121	CMK	blood:	n/a
41	chr2:56410071-56410121	NT2-D1	testis:	n/a
42	chr2:56410071-56410121	HEEpiC	esophagus:	n/a
43	chr2:56410071-56410121	HEK293	kidney:	embryo
44	chr2:56410071-56410121	Hepatocyte	liver:	n/a
45	chr2:56410071-56410121	SK-N-SH	brain:	n/a
46	chr2:56410071-56410121	HMEC	breast:	n/a
47	chr2:56410071-56410121	AG09319	gingival:	n/a
48	chr2:56410071-56410121	AG10803	skin:	n/a
49	chr2:56410071-56410121	HAEpiC	amniotic membrane:	n/a
50	chr2:56410071-56410121	A549	lung:	n/a

No data

Variant related genes	Relation type
CCDC85A	TF binding region
CCDC85A	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv874169	chr2:56383762-56473480	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2762648	chr2:56386656-56422448	Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3411625	chr2:56409873-56412421	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56400400-56410200	Weak transcription	HUVEC	blood vessel
2	chr2:56401000-56410600	Weak transcription	Left Ventricle	heart
3	chr2:56405200-56410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:56409000-56410800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:56409200-56410200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:56409200-56411000	Enhancers	Placenta	Placenta
7	chr2:56409400-56410200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr2:56409400-56410600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:56409400-56410600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr2:56409400-56411200	Weak transcription	Fetal Heart	heart
11	chr2:56409800-56410200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr2:56409800-56410200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr2:56409800-56410200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr2:56409800-56410400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:56409800-56410600	Enhancers	Adipose Nuclei	Adipose
16	chr2:56409800-56411000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:56410000-56410200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
18	chr2:56410000-56410200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:56410000-56410400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr2:56410000-56410600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr2:56410000-56410800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:56410000-56410800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:56410000-56410800	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:56410000-56411000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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