Variant report

Variant	rs2539866
Chromosome Location	chr2:210867165-210867166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:369)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr2:210867032-210867683	GM12878	blood:	n/a	n/a
2	YY1	chr2:210867108-210867640	GM12891	blood:	n/a	n/a
3	ELF1	chr2:210867053-210867888	GM12878	blood:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
4	CTCF	chr2:210867136-210867197	GM19239	blood:	n/a	n/a
5	ZNF143	chr2:210866960-210867382	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:210866863-210867651	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr2:210867080-210867230	HMEC	breast:	n/a	n/a
8	POLR2A	chr2:210866963-210867609	K562	blood:	n/a	n/a
9	ELF1	chr2:210866879-210868076	GM12878	blood:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
10	POLR2A	chr2:210866588-210868026	GM12892	blood:	n/a	n/a
11	MYBL2	chr2:210866767-210868118	HepG2	liver:	n/a	n/a
12	MYC	chr2:210867130-210867471	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr2:210866971-210867999	A549	lung:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
14	ZNF143	chr2:210867024-210867825	GM12878	blood:	n/a	n/a
15	YY1	chr2:210867008-210867764	A549	lung:	n/a	chr2:210867724-210867735
16	ELF1	chr2:210867084-210868015	K562	blood:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
17	MTA3	chr2:210866648-210868089	GM12878	blood:	n/a	n/a
18	SPI1	chr2:210867032-210867397	GM12891	blood:	n/a	chr2:210867061-210867074
19	TAF1	chr2:210867005-210867810	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELF1	chr2:210866941-210868097	SK-N-SH	brain:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
21	ELF1	chr2:210866972-210867956	SK-N-SH	brain:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
22	TAF1	chr2:210866941-210867827	GM12878	blood:	n/a	n/a
23	SIN3A	chr2:210866906-210868137	H1-hESC	embryonic stem cell:	n/a	chr2:210867541-210867552
24	TAF1	chr2:210866840-210867774	A549	lung:	n/a	n/a
25	SPI1	chr2:210867097-210867436	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:210866968-210867695	A549	lung:	n/a	n/a
27	MAFK	chr2:210867050-210867279	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:210866813-210868063	GM18526	blood:	n/a	n/a
29	POLR2A	chr2:210866848-210868030	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr2:210867040-210867190	GM12865	blood:	n/a	n/a
31	POLR2A	chr2:210866982-210867755	GM12878	blood:	n/a	n/a
32	MXI1	chr2:210867089-210867965	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr2:210867017-210867870	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr2:210866841-210868099	HL-60	blood:	n/a	n/a
35	POLR2A	chr2:210866476-210868466	PBDE	blood:	n/a	n/a
36	SIN3AK20	chr2:210866963-210867781	SK-N-SH	brain:	n/a	n/a
37	YY1	chr2:210866856-210867902	SK-N-SH_RA	brain:	n/a	chr2:210867724-210867735
38	YY1	chr2:210867006-210867710	SK-N-SH	brain:	n/a	n/a
39	MXI1	chr2:210866786-210868407	IMR90	lung:	n/a	n/a
40	POLR2A	chr2:210866795-210867627	U87	brain:	n/a	n/a
41	CTCF	chr2:210867100-210867250	SK-N-SH_RA	brain:	n/a	chr2:210867226-210867239
42	HDAC2	chr2:210866968-210867829	HepG2	liver:	n/a	chr2:210866996-210867010 chr2:210867000-210867014
43	ATF2	chr2:210867096-210867454	H1-hESC	embryonic stem cell:	n/a	n/a
44	TEAD4	chr2:210866921-210867328	K562	blood:	n/a	n/a
45	POLR2A	chr2:210866544-210867822	PFSK-1	brain:	n/a	n/a
46	E2F4	chr2:210866900-210867493	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr2:210866938-210867932	K562	blood:	n/a	n/a
48	TAF1	chr2:210866968-210867581	GM12891	blood:	n/a	n/a
49	MAX	chr2:210867089-210867579	H1-hESC	embryonic stem cell:	n/a	n/a
50	HCFC1	chr2:210866870-210867870	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:210867127-210867177	MCF10A-Er-Src	breast:	n/a
2	chr2:210867127-210867177	GM12891	blood:	n/a
3	chr2:210867127-210867177	RPTEC	kidney:	n/a
4	chr2:210867127-210867177	HMEC	breast:	n/a
5	chr2:210867127-210867177	NHBE	bronchial:	n/a
6	chr2:210867127-210867177	A549	lung:	n/a
7	chr2:210867127-210867177	AG09309	skin:	n/a
8	chr2:210867127-210867177	HEK293	kidney:	embryo
9	chr2:210867127-210867177	BJ	skin:	n/a
10	chr2:210867127-210867177	AG10803	skin:	n/a
11	chr2:210867127-210867177	SAEC	small airway:	n/a
12	chr2:210867127-210867177	HCF	heart:	n/a
13	chr2:210867127-210867177	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:210867127-210867177	Jurkat	blood:	n/a
15	chr2:210867127-210867177	HNPCEpiC	eye:	n/a
16	chr2:210867127-210867177	HEEpiC	esophagus:	n/a
17	chr2:210867127-210867177	T-47D	breast:	n/a
18	chr2:210867127-210867177	AG09319	gingival:	n/a
19	chr2:210867127-210867177	HCT-116	colon:	n/a
20	chr2:210867127-210867177	AoSMC	blood vessel:	n/a
21	chr2:210867127-210867177	SK-N-SH	brain:	n/a
22	chr2:210867127-210867177	U87	brain:	n/a
23	chr2:210867127-210867177	H1-hESC	embryonic stem cell:	embryo
24	chr2:210867127-210867177	HRE	kidney:	n/a
25	chr2:210867127-210867177	NH-A	brain:	n/a
26	chr2:210867127-210867177	GM19239	blood:	n/a
27	chr2:210867127-210867177	HL-60	blood:	n/a
28	chr2:210867127-210867177	HIPEpiC	eye:	n/a
29	chr2:210867127-210867177	CMK	blood:	n/a
30	chr2:210867127-210867177	GM12878	blood:	n/a
31	chr2:210867127-210867177	NT2-D1	testis:	n/a
32	chr2:210867127-210867177	GM12892	blood:	n/a
33	chr2:210867127-210867177	HUVEC	blood vessel:	n/a
34	chr2:210867127-210867177	Caco-2	colon:	n/a
35	chr2:210867127-210867177	PFSK-1	brain:	n/a
36	chr2:210867127-210867177	ECC-1	luminal epithelium:	n/a
37	chr2:210867127-210867177	SKMC	muscle:	n/a
38	chr2:210867127-210867177	K562	blood:	n/a
39	chr2:210867127-210867177	Hepatocyte	liver:	n/a
40	chr2:210867127-210867177	HRPEpiC	eye:	n/a
41	chr2:210867127-210867177	MCF-7	breast:	n/a
42	chr2:210867127-210867177	HRCEpiC	kidney:	n/a
43	chr2:210867127-210867177	AG04450	lung:	fetal
44	chr2:210867127-210867177	HCPEpiC	choroid plexus:	n/a
45	chr2:210867127-210867177	PrEC	prostate:	n/a
46	chr2:210867127-210867177	HCM	heart:	n/a
47	chr2:210867127-210867177	PANC-1	pancreas:	n/a
48	chr2:210867127-210867177	IMR90	lung:	fetal
49	chr2:210867127-210867177	SK-N-MC	brain:	n/a
50	chr2:210867127-210867177	BE2_C	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:210865937..210867928-chr2:211034610..211037287,3	MCF-7	breast:
2	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:
3	chr2:210866819..210870543-chr2:211034282..211037464,4	K562	blood:
4	chr2:210866282..210870548-chr2:211034114..211037570,6	MCF-7	breast:
5	chr2:210866974..210867861-chr7:1014447..1015141,2	HCT-116	colon:

No data

Variant related genes	Relation type
RPE	TF binding region
RPE	CpG island
ENSG00000231294	Chromatin interaction
ENSG00000263530	Chromatin interaction
ENSG00000144445	Chromatin interaction
ENSG00000240230	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11682724	1.00[ASN][1000 genomes]
rs1468731	1.00[ASN][1000 genomes]
rs60523731	1.00[ASN][1000 genomes]
rs73984318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210866400-210867200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr2:210866400-210868200	Active TSS	Brain Substantia Nigra	brain
3	chr2:210866600-210867200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr2:210866600-210867200	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr2:210866600-210867200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:210866600-210867200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:210866600-210867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:210866600-210867200	Enhancers	Spleen	Spleen
9	chr2:210866600-210867200	Flanking Active TSS	HMEC	breast
10	chr2:210866600-210867800	Active TSS	Fetal Brain Female	brain
11	chr2:210866600-210868000	Active TSS	Rectal Smooth Muscle	rectum
12	chr2:210866600-210868200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:210866600-210868200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:210866600-210868400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:210866600-210868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:210866600-210868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:210866600-210868600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:210866600-210868600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr2:210866600-210868800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:210866600-210869200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:210866800-210867200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:210866800-210867200	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr2:210866800-210867200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr2:210866800-210867200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:210866800-210867200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr2:210866800-210867200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr2:210866800-210867200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:210866800-210867200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:210866800-210867200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:210866800-210867200	Flanking Active TSS	HUVEC	blood vessel
31	chr2:210866800-210867200	Flanking Active TSS	NH-A	brain
32	chr2:210866800-210867800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:210866800-210867800	Active TSS	Fetal Lung	lung
34	chr2:210866800-210867800	Active TSS	Placenta	Placenta
35	chr2:210866800-210868000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:210866800-210868000	Active TSS	Fetal Heart	heart
37	chr2:210866800-210868000	Active TSS	Fetal Intestine Large	intestine
38	chr2:210866800-210868000	Active TSS	Lung	lung
39	chr2:210866800-210868200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:210866800-210868200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:210866800-210868200	Active TSS	Aorta	Aorta
42	chr2:210866800-210868200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:210866800-210868200	Active TSS	Esophagus	oesophagus
44	chr2:210866800-210868400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:210866800-210868400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:210866800-210868400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:210866800-210868400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:210866800-210868400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:210866800-210868400	Active TSS	Fetal Muscle Trunk	muscle
50	chr2:210866800-210868400	Active TSS	Left Ventricle	heart

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