Variant report

Variant	rs73984319
Chromosome Location	chr2:210867217-210867218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:376)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:376 , 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	ZNF143	chr2:210866960-210867382	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:210866863-210867651	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr2:210867080-210867230	HMEC	breast:	n/a	n/a
7	POLR2A	chr2:210866963-210867609	K562	blood:	n/a	n/a
8	ELF1	chr2:210866879-210868076	GM12878	blood:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
9	POLR2A	chr2:210866588-210868026	GM12892	blood:	n/a	n/a
10	MYBL2	chr2:210866767-210868118	HepG2	liver:	n/a	n/a
11	MYC	chr2:210867130-210867471	H1-hESC	embryonic stem cell:	n/a	n/a
12	ELF1	chr2:210866971-210867999	A549	lung:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
13	ZNF143	chr2:210867024-210867825	GM12878	blood:	n/a	n/a
14	YY1	chr2:210867008-210867764	A549	lung:	n/a	chr2:210867724-210867735
15	ELF1	chr2:210867084-210868015	K562	blood:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
16	MTA3	chr2:210866648-210868089	GM12878	blood:	n/a	n/a
17	SPI1	chr2:210867032-210867397	GM12891	blood:	n/a	chr2:210867061-210867074
18	TAF1	chr2:210867005-210867810	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr2:210866941-210868097	SK-N-SH	brain:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
20	ELF1	chr2:210866972-210867956	SK-N-SH	brain:	n/a	chr2:210867763-210867776 chr2:210867515-210867527
21	TAF1	chr2:210866941-210867827	GM12878	blood:	n/a	n/a
22	SIN3A	chr2:210866906-210868137	H1-hESC	embryonic stem cell:	n/a	chr2:210867541-210867552
23	TAF1	chr2:210866840-210867774	A549	lung:	n/a	n/a
24	SPI1	chr2:210867097-210867436	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:210866968-210867695	A549	lung:	n/a	n/a
26	MAFK	chr2:210867050-210867279	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:210866813-210868063	GM18526	blood:	n/a	n/a
28	POLR2A	chr2:210866848-210868030	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr2:210866982-210867755	GM12878	blood:	n/a	n/a
30	MXI1	chr2:210867089-210867965	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr2:210867017-210867870	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:210866841-210868099	HL-60	blood:	n/a	n/a
33	POLR2A	chr2:210866476-210868466	PBDE	blood:	n/a	n/a
34	SIN3AK20	chr2:210866963-210867781	SK-N-SH	brain:	n/a	n/a
35	YY1	chr2:210866856-210867902	SK-N-SH_RA	brain:	n/a	chr2:210867724-210867735
36	YY1	chr2:210867006-210867710	SK-N-SH	brain:	n/a	n/a
37	MXI1	chr2:210866786-210868407	IMR90	lung:	n/a	n/a
38	POLR2A	chr2:210866795-210867627	U87	brain:	n/a	n/a
39	CTCF	chr2:210867100-210867250	SK-N-SH_RA	brain:	n/a	chr2:210867226-210867239
40	HDAC2	chr2:210866968-210867829	HepG2	liver:	n/a	chr2:210866996-210867010 chr2:210867000-210867014
41	ATF2	chr2:210867096-210867454	H1-hESC	embryonic stem cell:	n/a	n/a
42	TEAD4	chr2:210866921-210867328	K562	blood:	n/a	n/a
43	POLR2A	chr2:210866544-210867822	PFSK-1	brain:	n/a	n/a
44	E2F4	chr2:210866900-210867493	MCF10A-Er-Src	breast:	n/a	n/a
45	MAX	chr2:210866938-210867932	K562	blood:	n/a	n/a
46	TAF1	chr2:210866968-210867581	GM12891	blood:	n/a	n/a
47	MAX	chr2:210867089-210867579	H1-hESC	embryonic stem cell:	n/a	n/a
48	HCFC1	chr2:210866870-210867870	K562	blood:	n/a	n/a
49	POLR2A	chr2:210866473-210867976	HepG2	liver:	n/a	n/a
50	TCF12	chr2:210866817-210867977	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:210867207-210867257	RPTEC	kidney:	n/a
2	chr2:210867207-210867257	HepG2	liver:	n/a
3	chr2:210867207-210867257	ovcar-3	ovarian:	n/a
4	chr2:210867217-210867267	PrEC	prostate:	n/a
5	chr2:210867217-210867267	MCF10A-Er-Src	breast:	n/a
6	chr2:210867217-210867267	ovcar-3	ovarian:	n/a
7	chr2:210867217-210867267	BJ	skin:	n/a
8	chr2:210867207-210867257	Hepatocyte	liver:	n/a
9	chr2:210867207-210867257	MCF-7	breast:	n/a
10	chr2:210867207-210867257	HCT-116	colon:	n/a
11	chr2:210867217-210867267	AoSMC	blood vessel:	n/a
12	chr2:210867207-210867257	GM12891	blood:	n/a
13	chr2:210867207-210867257	Hela-S3	cervix:	n/a
14	chr2:210867217-210867267	H1-hESC	embryonic stem cell:	embryo
15	chr2:210867207-210867257	HUVEC	blood vessel:	n/a
16	chr2:210867207-210867257	HCF	heart:	n/a
17	chr2:210867207-210867257	MCF10A-Er-Src	breast:	n/a
18	chr2:210867217-210867267	AG04450	lung:	fetal
19	chr2:210867207-210867257	GM06990	blood:	n/a
20	chr2:210867207-210867257	SAEC	small airway:	n/a
21	chr2:210867217-210867267	NT2-D1	testis:	n/a
22	chr2:210867207-210867257	A549	lung:	n/a
23	chr2:210867217-210867267	HCM	heart:	n/a
24	chr2:210867207-210867257	HRCEpiC	kidney:	n/a
25	chr2:210867207-210867257	BJ	skin:	n/a
26	chr2:210867207-210867257	AG04450	lung:	fetal
27	chr2:210867217-210867267	GM19239	blood:	n/a
28	chr2:210867207-210867257	HNPCEpiC	eye:	n/a
29	chr2:210867207-210867257	AG10803	skin:	n/a
30	chr2:210867207-210867257	IMR90	lung:	fetal
31	chr2:210867207-210867257	HRE	kidney:	n/a
32	chr2:210867207-210867257	BE2_C	brain:	n/a
33	chr2:210867217-210867267	A549	lung:	n/a
34	chr2:210867207-210867257	SKMC	muscle:	n/a
35	chr2:210867217-210867267	ECC-1	luminal epithelium:	n/a
36	chr2:210867207-210867257	HAEpiC	amniotic membrane:	n/a
37	chr2:210867217-210867267	HRE	kidney:	n/a
38	chr2:210867207-210867257	U87	brain:	n/a
39	chr2:210867207-210867257	AoSMC	blood vessel:	n/a
40	chr2:210867217-210867267	K562	blood:	n/a
41	chr2:210867217-210867267	ProgFib	skin:	n/a
42	chr2:210867207-210867257	GM19239	blood:	n/a
43	chr2:210867217-210867267	HRCEpiC	kidney:	n/a
44	chr2:210867207-210867257	ECC-1	luminal epithelium:	n/a
45	chr2:210867217-210867267	BE2_C	brain:	n/a
46	chr2:210867207-210867257	NT2-D1	testis:	n/a
47	chr2:210867217-210867267	LNCaP	prostate:	n/a
48	chr2:210867207-210867257	HRPEpiC	eye:	n/a
49	chr2:210867217-210867267	NHDF-neo	bronchial:	n/a
50	chr2:210867217-210867267	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:210867212..210869682-chr2:210892589..210895075,2	K562	blood:
2	chr2:210865937..210867928-chr2:211034610..211037287,3	MCF-7	breast:
3	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:
4	chr2:210866819..210870543-chr2:211034282..211037464,4	K562	blood:
5	chr2:210866282..210870548-chr2:211034114..211037570,6	MCF-7	breast:
6	chr2:210866974..210867861-chr7:1014447..1015141,2	HCT-116	colon:

No data

Variant related genes	Relation type
RPE	TF binding region
RPE	CpG island
ENSG00000144445	Chromatin interaction
ENSG00000231294	Chromatin interaction
ENSG00000240230	Chromatin interaction
ENSG00000272807	Chromatin interaction
ENSG00000263530	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56319988	1.00[AMR][1000 genomes]
rs61407359	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984314	1.00[AMR][1000 genomes]
rs73984315	1.00[AMR][1000 genomes]
rs73984316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984322	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210866400-210868200	Active TSS	Brain Substantia Nigra	brain
2	chr2:210866600-210867800	Active TSS	Fetal Brain Female	brain
3	chr2:210866600-210868000	Active TSS	Rectal Smooth Muscle	rectum
4	chr2:210866600-210868200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:210866600-210868200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:210866600-210868400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:210866600-210868400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:210866600-210868400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:210866600-210868600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:210866600-210868600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr2:210866600-210868800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:210866600-210869200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:210866800-210867800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:210866800-210867800	Active TSS	Fetal Lung	lung
15	chr2:210866800-210867800	Active TSS	Placenta	Placenta
16	chr2:210866800-210868000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:210866800-210868000	Active TSS	Fetal Heart	heart
18	chr2:210866800-210868000	Active TSS	Fetal Intestine Large	intestine
19	chr2:210866800-210868000	Active TSS	Lung	lung
20	chr2:210866800-210868200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:210866800-210868200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:210866800-210868200	Active TSS	Aorta	Aorta
23	chr2:210866800-210868200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:210866800-210868200	Active TSS	Esophagus	oesophagus
25	chr2:210866800-210868400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:210866800-210868400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:210866800-210868400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:210866800-210868400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:210866800-210868400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:210866800-210868400	Active TSS	Fetal Muscle Trunk	muscle
31	chr2:210866800-210868400	Active TSS	Left Ventricle	heart
32	chr2:210866800-210868400	Active TSS	Ovary	ovary
33	chr2:210866800-210868400	Active TSS	Right Ventricle	heart
34	chr2:210866800-210868800	Active TSS	A549	lung
35	chr2:210866800-210869000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr2:210866800-210869000	Active TSS	Right Atrium	heart
37	chr2:210867000-210867400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:210867000-210867400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:210867000-210867400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:210867000-210867400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:210867000-210867600	Active TSS	Primary hematopoietic stem cells	blood
42	chr2:210867000-210867600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr2:210867000-210867600	Active TSS	Adipose Nuclei	Adipose
44	chr2:210867000-210867600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr2:210867000-210867800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:210867000-210867800	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr2:210867000-210867800	Active TSS	Primary T cells fromperipheralblood	blood
48	chr2:210867000-210867800	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr2:210867000-210867800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:210867000-210867800	Active TSS	Primary T killer memory cells from peripheral blood	blood

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