Variant report

Variant	rs567281942
Chromosome Location	chr2:191045473-191045474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:191044829-191045592	GM12878	blood:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
2	CCNT2	chr2:191044878-191045889	K562	blood:	n/a	n/a
3	NFIC	chr2:191044835-191046090	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:191044910-191045776	K562	blood:	n/a	n/a
5	RAD21	chr2:191044859-191045807	HepG2	liver:	n/a	chr2:191045028-191045042 chr2:191045470-191045484 chr2:191045466-191045485 chr2:191045670-191045683 chr2:191045483-191045497 chr2:191045028-191045038 chr2:191045155-191045165 chr2:191045716-191045729
6	E2F6	chr2:191045400-191045678	K562	blood:	n/a	chr2:191045436-191045450 chr2:191045439-191045453
7	MAZ	chr2:191044847-191046275	K562	blood:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
8	HNF4A	chr2:191044892-191045875	HepG2	liver:	n/a	chr2:191045652-191045670 chr2:191045654-191045668 chr2:191045653-191045668 chr2:191045653-191045668 chr2:191045654-191045667 chr2:191045655-191045667 chr2:191045650-191045672 chr2:191045655-191045668 chr2:191045653-191045668 chr2:191045655-191045667 chr2:191045653-191045668
9	POLR2A	chr2:191044855-191045911	GM18526	blood:	n/a	n/a
10	UBTF	chr2:191044935-191045828	K562	blood:	n/a	n/a
11	POLR2A	chr2:191044862-191046235	K562	blood:	n/a	n/a
12	TBP	chr2:191044874-191045694	H1-hESC	embryonic stem cell:	n/a	n/a
13	GATA1	chr2:191045181-191046943	PBDE	blood:	n/a	chr2:191046502-191046518 chr2:191046507-191046514 chr2:191046500-191046521 chr2:191046507-191046514 chr2:191046507-191046514
14	GTF3C2	chr2:191044891-191045927	K562	blood:	n/a	n/a
15	KAP1	chr2:191044490-191045576	HEK293	kidney:	n/a	n/a
16	JUND	chr2:191045416-191045743	HepG2	liver:	n/a	chr2:191045683-191045692
17	TCF12	chr2:191044935-191045633	GM12878	blood:	n/a	chr2:191045486-191045493
18	YY1	chr2:191044879-191045617	GM12878	blood:	n/a	chr2:191045470-191045478 chr2:191045018-191045032 chr2:191045277-191045291 chr2:191045467-191045486
19	RCOR1	chr2:191044568-191045567	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:191044813-191045978	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr2:191044294-191046089	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
22	MXI1	chr2:191044566-191045986	GM12878	blood:	n/a	chr2:191045634-191045649
23	CTCF	chr2:191044897-191045589	GM19239	blood:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
24	MAZ	chr2:191044822-191045978	HepG2	liver:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
25	POLR2A	chr2:191045290-191045920	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr2:191045296-191045975	GM12892	blood:	n/a	n/a
27	CTCF	chr2:191044681-191045578	HCT-116	colon:	n/a	chr2:191045026-191045044 chr2:191045468-191045486 chr2:191045028-191045041
28	MXI1	chr2:191044760-191046144	HepG2	liver:	n/a	chr2:191045634-191045649
29	ZBTB7A	chr2:191044834-191046042	ECC-1	luminal epithelium:	n/a	chr2:191045027-191045035 chr2:191045112-191045121
30	CTCF	chr2:191045420-191045570	AG10803	skin:	n/a	chr2:191045468-191045486
31	CTCF	chr2:191044881-191045483	GM19238	blood:	n/a	chr2:191045026-191045044 chr2:191045028-191045041
32	HEY1	chr2:191044798-191045901	HepG2	liver:	n/a	chr2:191045810-191045825 chr2:191045348-191045363 chr2:191045754-191045769
33	POLR2A	chr2:191045401-191046275	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr2:191044818-191045659	K562	blood:	n/a	chr2:191045470-191045478 chr2:191045018-191045032 chr2:191045277-191045291 chr2:191045627-191045636 chr2:191045467-191045486
35	POLR2A	chr2:191044837-191045906	GM18951	blood:	n/a	n/a
36	E2F6	chr2:191045363-191045570	K562	blood:	n/a	chr2:191045436-191045450 chr2:191045439-191045453
37	POLR2A	chr2:191044888-191045745	HCT-116	colon:	n/a	n/a
38	CHD2	chr2:191044672-191045530	GM12878	blood:	n/a	n/a
39	MAX	chr2:191044849-191045975	K562	blood:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
40	MAX	chr2:191044452-191046036	ECC-1	luminal epithelium:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
41	POLR2A	chr2:191045018-191045983	K562	blood:	n/a	n/a
42	CTCF	chr2:191045413-191045509	GM13976	blood:	n/a	chr2:191045468-191045486
43	MYC	chr2:191045431-191045651	K562	blood:	n/a	n/a
44	YY1	chr2:191044854-191045650	GM12878	blood:	n/a	chr2:191045470-191045478 chr2:191045018-191045032 chr2:191045277-191045291 chr2:191045627-191045636 chr2:191045467-191045486
45	CEBPD	chr2:191044848-191045475	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:191045035-191045840	A549	lung:	n/a	n/a
47	POLR2A	chr2:191045044-191045972	GM12878	blood:	n/a	n/a
48	RCOR1	chr2:191044545-191045988	HepG2	liver:	n/a	n/a
49	MYC	chr2:191044822-191046070	K562	blood:	n/a	chr2:191045708-191045718 chr2:191045362-191045372
50	NFIC	chr2:191044771-191045658	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191045430-191045480	PrEC	prostate:	n/a
2	chr2:191045430-191045480	SK-N-SH_RA	brain:	n/a
3	chr2:191045430-191045480	HIPEpiC	eye:	n/a
4	chr2:191045430-191045480	HMEC	breast:	n/a
5	chr2:191045430-191045480	HCT-116	colon:	n/a
6	chr2:191045430-191045480	SAEC	small airway:	n/a
7	chr2:191045430-191045480	HNPCEpiC	eye:	n/a
8	chr2:191045430-191045480	HUVEC	blood vessel:	n/a
9	chr2:191045430-191045480	HEK293	kidney:	embryo
10	chr2:191045430-191045480	HAEpiC	amniotic membrane:	n/a
11	chr2:191045430-191045480	CMK	blood:	n/a
12	chr2:191045430-191045480	NT2-D1	testis:	n/a
13	chr2:191045430-191045480	AG04449	skin:	fetal
14	chr2:191045430-191045480	Caco-2	colon:	n/a
15	chr2:191045430-191045480	IMR90	lung:	fetal
16	chr2:191045430-191045480	ProgFib	skin:	n/a
17	chr2:191045430-191045480	HepG2	liver:	n/a
18	chr2:191045430-191045480	HCF	heart:	n/a
19	chr2:191045430-191045480	BE2_C	brain:	n/a
20	chr2:191045430-191045480	Hela-S3	cervix:	n/a
21	chr2:191045430-191045480	Hepatocyte	liver:	n/a
22	chr2:191045430-191045480	PANC-1	pancreas:	n/a
23	chr2:191045430-191045480	K562	blood:	n/a
24	chr2:191045430-191045480	LNCaP	prostate:	n/a
25	chr2:191045430-191045480	AG09319	gingival:	n/a
26	chr2:191045430-191045480	GM19239	blood:	n/a
27	chr2:191045430-191045480	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:191045430-191045480	U87	brain:	n/a
29	chr2:191045430-191045480	NHDF-neo	bronchial:	n/a
30	chr2:191045430-191045480	A549	lung:	n/a
31	chr2:191045430-191045480	AG04450	lung:	fetal
32	chr2:191045430-191045480	HL-60	blood:	n/a
33	chr2:191045430-191045480	NH-A	brain:	n/a
34	chr2:191045430-191045480	MCF-7	breast:	n/a
35	chr2:191045430-191045480	ECC-1	luminal epithelium:	n/a
36	chr2:191045430-191045480	HEEpiC	esophagus:	n/a
37	chr2:191045430-191045480	HRE	kidney:	n/a
38	chr2:191045430-191045480	SK-N-MC	brain:	n/a
39	chr2:191045430-191045480	HCM	heart:	n/a
40	chr2:191045430-191045480	BJ	skin:	n/a
41	chr2:191045430-191045480	HCPEpiC	choroid plexus:	n/a
42	chr2:191045430-191045480	HRPEpiC	eye:	n/a
43	chr2:191045430-191045480	AG09309	skin:	n/a
44	chr2:191045430-191045480	SKMC	muscle:	n/a
45	chr2:191045430-191045480	T-47D	breast:	n/a
46	chr2:191045430-191045480	H1-hESC	embryonic stem cell:	embryo
47	chr2:191045430-191045480	Jurkat	blood:	n/a
48	chr2:191045430-191045480	ovcar-3	ovarian:	n/a
49	chr2:191045430-191045480	GM12892	blood:	n/a
50	chr2:191045430-191045480	AoSMC	blood vessel:	n/a

Variant related genes	Relation type
C2orf88	TF binding region
C2orf88	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3441594	chr2:191044357-191046805	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191044400-191046000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:191044400-191046200	Active TSS	Brain Cingulate Gyrus	brain
3	chr2:191044600-191046000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:191044600-191046000	Active TSS	Fetal Lung	lung
5	chr2:191044600-191046200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr2:191044600-191046400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:191044600-191046400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:191044600-191046600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:191044800-191045600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
10	chr2:191044800-191045600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
11	chr2:191044800-191045600	Active TSS	Fetal Brain Female	brain
12	chr2:191044800-191045800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:191044800-191045800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr2:191044800-191045800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:191044800-191045800	Active TSS	NHLF	lung
16	chr2:191044800-191046000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:191044800-191046000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:191044800-191046000	Active TSS	Primary hematopoietic stem cells	blood
19	chr2:191044800-191046000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:191044800-191046000	Flanking Active TSS	Liver	Liver
21	chr2:191044800-191046000	Active TSS	Brain Substantia Nigra	brain
22	chr2:191044800-191046000	Bivalent Enhancer	Fetal Brain Male	brain
23	chr2:191044800-191046000	Active TSS	Fetal Kidney	kidney
24	chr2:191044800-191046000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr2:191044800-191046200	Active TSS	Aorta	Aorta
26	chr2:191044800-191046200	Active TSS	Psoas Muscle	Psoas
27	chr2:191044800-191046200	Active TSS	HSMM	muscle
28	chr2:191044800-191046400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:191044800-191046400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:191044800-191046400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr2:191044800-191046400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:191044800-191046400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr2:191044800-191046400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:191044800-191046600	Active TSS	Right Ventricle	heart
35	chr2:191044800-191047000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:191044800-191047000	Active TSS	Left Ventricle	heart
37	chr2:191044800-191048000	Active TSS	Fetal Intestine Large	intestine
38	chr2:191044800-191049000	Active TSS	Right Atrium	heart
39	chr2:191045000-191045600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:191045000-191045800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:191045000-191045800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:191045000-191045800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:191045000-191045800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:191045000-191045800	Flanking Active TSS	Lung	lung
45	chr2:191045000-191045800	Flanking Active TSS	Spleen	Spleen
46	chr2:191045000-191045800	Active TSS	GM12878-XiMat	blood
47	chr2:191045000-191045800	Flanking Active TSS	HMEC	breast
48	chr2:191045000-191046000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:191045000-191046000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:191045000-191046000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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