Variant report

Variant	rs2279838
Chromosome Location	chr2:114647485-114647486
allele	A/C
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	STAT5A	chr2:114647044-114647958	K562	blood:	n/a	chr2:114647915-114647927
2	ZNF143	chr2:114647188-114647613	Hela-S3	cervix:	n/a	n/a
3	EP300	chr2:114647200-114647756	K562	blood:	n/a	chr2:114647334-114647348 chr2:114647463-114647479 chr2:114647682-114647698
4	POLR2A	chr2:114646585-114647898	U87	brain:	n/a	n/a
5	TEAD4	chr2:114647359-114647734	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELK1	chr2:114647066-114647825	K562	blood:	n/a	n/a
7	YY1	chr2:114647047-114648741	GM12878	blood:	n/a	chr2:114647534-114647542 chr2:114647530-114647542 chr2:114647528-114647548 chr2:114647941-114647960 chr2:114647531-114647541 chr2:114648096-114648110 chr2:114648096-114648105 chr2:114647948-114647958 chr2:114648094-114648105 chr2:114647532-114647540 chr2:114647512-114647526 chr2:114647949-114647957
8	POLR2A	chr2:114646525-114649045	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr2:114646834-114647754	Hela-S3	cervix:	n/a	n/a
10	EP300	chr2:114646932-114647900	K562	blood:	n/a	chr2:114647334-114647348 chr2:114647463-114647479 chr2:114647682-114647698
11	USF2	chr2:114647205-114647852	H1-hESC	embryonic stem cell:	n/a	chr2:114647822-114647838
12	CHD2	chr2:114646783-114648596	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr2:114646977-114648004	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:114647026-114648394	HUVEC	blood vessel:	n/a	n/a
15	YY1	chr2:114646973-114648214	SK-N-SH_RA	brain:	n/a	chr2:114647534-114647542 chr2:114647530-114647542 chr2:114647528-114647548 chr2:114647941-114647960 chr2:114647531-114647541 chr2:114648096-114648110 chr2:114648096-114648105 chr2:114647948-114647958 chr2:114648094-114648105 chr2:114647532-114647540 chr2:114647512-114647526 chr2:114647002-114647013 chr2:114647949-114647957
16	PML	chr2:114647042-114647845	MCF-7	breast:	n/a	n/a
17	GABPA	chr2:114647136-114647747	SK-N-SH	brain:	n/a	chr2:114647442-114647456 chr2:114647445-114647456
18	IKZF1	chr2:114646893-114647700	GM12878	blood:	n/a	n/a
19	SP4	chr2:114647079-114647658	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr2:114647149-114647751	MCF10A-Er-Src	breast:	n/a	n/a
21	GTF2F1	chr2:114647101-114647846	K562	blood:	n/a	n/a
22	ZBTB33	chr2:114647023-114647503	A549	lung:	n/a	n/a
23	TCF12	chr2:114647148-114647693	HepG2	liver:	n/a	chr2:114647309-114647316
24	SP1	chr2:114647067-114647617	GM12878	blood:	n/a	n/a
25	HCFC1	chr2:114646881-114648632	K562	blood:	n/a	n/a
26	TAF1	chr2:114646953-114648000	GM12892	blood:	n/a	n/a
27	RFX5	chr2:114647032-114647714	GM12878	blood:	n/a	n/a
28	TCF12	chr2:114647348-114647655	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3AK20	chr2:114646869-114648995	MCF-7	breast:	n/a	n/a
30	EP300	chr2:114647154-114647671	SK-N-SH_RA	brain:	n/a	chr2:114647334-114647348 chr2:114647463-114647479
31	KAP1	chr2:114647049-114647566	U2OS	brain:	n/a	n/a
32	SIN3AK20	chr2:114647146-114648716	HepG2	liver:	n/a	n/a
33	SP1	chr2:114646950-114647901	HCT-116	colon:	n/a	chr2:114646997-114647011
34	ZBTB7A	chr2:114647147-114648389	K562	blood:	n/a	chr2:114648150-114648159
35	POLR2A	chr2:114646785-114647999	PFSK-1	brain:	n/a	n/a
36	CREB1	chr2:114647057-114647893	A549	lung:	n/a	n/a
37	SPI1	chr2:114647136-114647852	GM12891	blood:	n/a	chr2:114647671-114647680
38	TAF1	chr2:114647019-114647961	MCF-7	breast:	n/a	n/a
39	MXI1	chr2:114646885-114647840	Hela-S3	cervix:	n/a	n/a
40	MAZ	chr2:114646907-114648801	Hela-S3	cervix:	n/a	n/a
41	POU2F2	chr2:114646939-114648723	GM12878	blood:	n/a	n/a
42	REST	chr2:114646992-114647893	SK-N-SH	brain:	n/a	n/a
43	REST	chr2:114647083-114647527	A549	lung:	n/a	n/a
44	MYC	chr2:114646964-114648751	K562	blood:	n/a	n/a
45	HDAC2	chr2:114647255-114647630	K562	blood:	n/a	n/a
46	CUX1	chr2:114647043-114647841	K562	blood:	n/a	n/a
47	TRIM28	chr2:114646857-114647989	K562	blood:	n/a	n/a
48	MXI1	chr2:114646964-114647955	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:114646884-114649051	GM12892	blood:	n/a	n/a
50	RFX5	chr2:114647000-114647799	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114647455-114647505	ECC-1	luminal epithelium:	n/a
2	chr2:114647455-114647505	AG04450	lung:	fetal
3	chr2:114647455-114647505	SK-N-SH	brain:	n/a
4	chr2:114647455-114647505	GM12878	blood:	n/a
5	chr2:114647455-114647505	A549	lung:	n/a
6	chr2:114647447-114647497	AG09319	gingival:	n/a
7	chr2:114647455-114647505	SK-N-SH_RA	brain:	n/a
8	chr2:114647455-114647505	NHDF-neo	bronchial:	n/a
9	chr2:114647447-114647497	HCM	heart:	n/a
10	chr2:114647447-114647497	AoSMC	blood vessel:	n/a
11	chr2:114647455-114647505	Jurkat	blood:	n/a
12	chr2:114647447-114647497	Caco-2	colon:	n/a
13	chr2:114647447-114647497	PANC-1	pancreas:	n/a
14	chr2:114647455-114647505	HCPEpiC	choroid plexus:	n/a
15	chr2:114647455-114647505	NHBE	bronchial:	n/a
16	chr2:114647447-114647497	ECC-1	luminal epithelium:	n/a
17	chr2:114647447-114647497	HNPCEpiC	eye:	n/a
18	chr2:114647455-114647505	HCT-116	colon:	n/a
19	chr2:114647455-114647505	HEEpiC	esophagus:	n/a
20	chr2:114647455-114647505	ovcar-3	ovarian:	n/a
21	chr2:114647455-114647505	HIPEpiC	eye:	n/a
22	chr2:114647447-114647497	HAEpiC	amniotic membrane:	n/a
23	chr2:114647455-114647505	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:114647447-114647497	GM06990	blood:	n/a
25	chr2:114647455-114647505	RPTEC	kidney:	n/a
26	chr2:114647455-114647505	MCF-7	breast:	n/a
27	chr2:114647455-114647505	AG09309	skin:	n/a
28	chr2:114647455-114647505	NH-A	brain:	n/a
29	chr2:114647447-114647497	GM12892	blood:	n/a
30	chr2:114647447-114647497	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:114647455-114647505	LNCaP	prostate:	n/a
32	chr2:114647455-114647505	HCF	heart:	n/a
33	chr2:114647447-114647497	HRE	kidney:	n/a
34	chr2:114647455-114647505	HNPCEpiC	eye:	n/a
35	chr2:114647455-114647505	NB4	blood:	n/a
36	chr2:114647447-114647497	H1-hESC	embryonic stem cell:	embryo
37	chr2:114647455-114647505	HRE	kidney:	n/a
38	chr2:114647447-114647497	ProgFib	skin:	n/a
39	chr2:114647447-114647497	PFSK-1	brain:	n/a
40	chr2:114647455-114647505	HCM	heart:	n/a
41	chr2:114647447-114647497	IMR90	lung:	fetal
42	chr2:114647447-114647497	AG04449	skin:	fetal
43	chr2:114647447-114647497	HRCEpiC	kidney:	n/a
44	chr2:114647455-114647505	HEK293	kidney:	embryo
45	chr2:114647447-114647497	HIPEpiC	eye:	n/a
46	chr2:114647455-114647505	SK-N-MC	brain:	n/a
47	chr2:114647455-114647505	T-47D	breast:	n/a
48	chr2:114647447-114647497	BE2_C	brain:	n/a
49	chr2:114647455-114647505	HRPEpiC	eye:	n/a
50	chr2:114647447-114647497	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114500995..114503917-chr2:114646360..114648344,2	MCF-7	breast:
2	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
3	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
4	chr2:114604030..114606548-chr2:114644904..114647521,3	K562	blood:
5	chr2:105945454..105947093-chr2:114645537..114647581,2	K562	blood:
6	chr2:114513771..114515245-chr2:114647371..114648721,7	MCF-7	breast:
7	chr10:1033868..1034831-chr2:114647091..114647827,2	HCT-116	colon:
8	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
9	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000270019	TF binding region
ENSG00000270019	CpG island
ACTR3	CpG island
ENSG00000205740	Chromatin interaction
ENSG00000135966	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000239077	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10187493	0.83[ASN][1000 genomes]
rs10187590	0.82[ASN][1000 genomes]
rs2134778	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3748996	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3791742	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59235945	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60060801	0.84[ASN][1000 genomes]
rs62171763	0.86[ASN][1000 genomes]
rs62171780	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7580260	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3379758	chr2:114646832-114649180	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114644600-114649600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:114645400-114649800	Active TSS	GM12878-XiMat	blood
3	chr2:114645800-114648800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:114645800-114649600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:114646000-114649000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:114646000-114649200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:114646000-114649800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:114646000-114650000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:114646200-114649000	Active TSS	Stomach Mucosa	stomach
10	chr2:114646200-114649200	Active TSS	Fetal Kidney	kidney
11	chr2:114646200-114649400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr2:114646200-114649400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:114646400-114648800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:114646400-114648800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:114646400-114649200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr2:114646400-114649200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:114646400-114649200	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:114646400-114649400	Active TSS	Colonic Mucosa	Colon
19	chr2:114646400-114649800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:114646400-114649800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:114646400-114650000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:114646400-114650000	Active TSS	Psoas Muscle	Psoas
23	chr2:114646400-114650000	Active TSS	HSMM	muscle
24	chr2:114646400-114650200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:114646400-114650800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:114646600-114647800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:114646600-114647800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:114646600-114648000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:114646600-114648200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr2:114646600-114648400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:114646600-114648600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:114646600-114648800	Active TSS	Pancreas	Pancrea
33	chr2:114646600-114648800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:114646600-114649000	Active TSS	Ovary	ovary
35	chr2:114646600-114649000	Active TSS	Placenta Amnion	Placenta Amnion
36	chr2:114646600-114649200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:114646600-114649200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:114646600-114649200	Active TSS	Brain Angular Gyrus	brain
39	chr2:114646600-114649200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:114646600-114649200	Active TSS	Fetal Lung	lung
41	chr2:114646600-114649200	Active TSS	Small Intestine	intestine
42	chr2:114646600-114649200	Active TSS	Hela-S3	cervix
43	chr2:114646600-114649400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:114646600-114649400	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr2:114646600-114649400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:114646600-114649600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:114646600-114649600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:114646600-114649600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:114646600-114649600	Active TSS	Colon Smooth Muscle	Colon
50	chr2:114646600-114649600	Active TSS	Duodenum Mucosa	Duodenum

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