Variant report

Variant	rs533478816
Chromosome Location	chr2:74425644-74425645
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:518)
CpG islands
(count:61)
Chromatin interactive
region (count:50)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr2:74425478-74426035	GM12892	blood:	n/a	n/a
2	MYC	chr2:74425396-74426479	K562	blood:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
3	MAX	chr2:74425065-74426730	A549	lung:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
4	SP2	chr2:74425467-74425750	K562	blood:	n/a	chr2:74425679-74425694
5	POLR2A	chr2:74425469-74426704	H1-neurons	neurons:	n/a	n/a
6	CREB1	chr2:74425298-74426700	H1-hESC	embryonic stem cell:	n/a	chr2:74426013-74426026
7	NR2F2	chr2:74424888-74426757	K562	blood:	n/a	n/a
8	USF1	chr2:74424996-74425887	A549	lung:	n/a	n/a
9	POLR2A	chr2:74425447-74426620	H1-neurons	neurons:	n/a	n/a
10	TBL1XR1	chr2:74425593-74426592	K562	blood:	n/a	n/a
11	ELF1	chr2:74425292-74426620	GM12878	blood:	n/a	chr2:74426219-74426231
12	JUND	chr2:74425253-74426533	K562	blood:	n/a	chr2:74425683-74425692 chr2:74426151-74426160
13	MAZ	chr2:74425590-74426620	HepG2	liver:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
14	POLR2A	chr2:74425301-74426702	K562	blood:	n/a	n/a
15	POLR2A	chr2:74425241-74427579	HL-60	blood:	n/a	n/a
16	CHD2	chr2:74425210-74425926	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP2	chr2:74425463-74425876	H1-hESC	embryonic stem cell:	n/a	chr2:74425679-74425694
18	TEAD4	chr2:74425181-74425993	HepG2	liver:	n/a	n/a
19	MXI1	chr2:74425075-74427471	IMR90	lung:	n/a	n/a
20	SETDB1	chr2:74425468-74426399	K562	blood:	n/a	chr2:74425728-74425737
21	BRCA1	chr2:74425616-74425811	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF12	chr2:74425543-74426478	A549	lung:	n/a	n/a
23	REST	chr2:74425593-74425904	Hela-S3	cervix:	n/a	chr2:74425678-74425691
24	TBP	chr2:74425290-74425960	GM12878	blood:	n/a	n/a
25	MAX	chr2:74425345-74425927	HUVEC	blood vessel:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726
26	TAF7	chr2:74425362-74426737	H1-hESC	embryonic stem cell:	n/a	n/a
27	USF2	chr2:74425353-74425933	K562	blood:	n/a	n/a
28	MXI1	chr2:74425282-74426712	GM12878	blood:	n/a	n/a
29	BCL3	chr2:74425066-74426735	A549	lung:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
30	SP1	chr2:74425256-74425904	GM12878	blood:	n/a	chr2:74425683-74425695 chr2:74425685-74425694 chr2:74425680-74425694 chr2:74425684-74425693 chr2:74425683-74425695
31	STAT3	chr2:74425418-74425802	MCF10A-Er-Src	breast:	n/a	chr2:74425483-74425490
32	POLR2A	chr2:74425437-74427496	GM12891	blood:	n/a	n/a
33	POLR2A	chr2:74425324-74426720	K562	blood:	n/a	n/a
34	SP1	chr2:74425048-74426741	A549	lung:	n/a	chr2:74426001-74426011 chr2:74426383-74426397 chr2:74426001-74426011 chr2:74426399-74426409 chr2:74425683-74425695 chr2:74425685-74425694 chr2:74426399-74426409 chr2:74425680-74425694 chr2:74425684-74425693 chr2:74425683-74425695
35	ELF1	chr2:74425577-74426009	HepG2	liver:	n/a	n/a
36	USF1	chr2:74425337-74425978	ECC-1	luminal epithelium:	n/a	n/a
37	SP1	chr2:74425320-74425878	H1-hESC	embryonic stem cell:	n/a	chr2:74425683-74425695 chr2:74425685-74425694 chr2:74425680-74425694 chr2:74425684-74425693 chr2:74425683-74425695
38	NFE2	chr2:74425554-74425781	GM12878	blood:	n/a	chr2:74425718-74425727
39	CREB1	chr2:74425181-74426654	GM12878	blood:	n/a	chr2:74426013-74426026
40	E2F6	chr2:74425107-74426601	H1-hESC	embryonic stem cell:	n/a	chr2:74426374-74426383 chr2:74425688-74425698 chr2:74425735-74425746 chr2:74425684-74425693
41	MYC	chr2:74425625-74425872	MCF-7	breast:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726
42	YY1	chr2:74425596-74425969	GM12891	blood:	n/a	n/a
43	FOXM1	chr2:74425306-74426996	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:74425377-74426662	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr2:74425322-74426904	GM12891	blood:	n/a	n/a
46	POLR2A	chr2:74425231-74426615	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr2:74425291-74426667	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:74425427-74427499	GM12891	blood:	n/a	n/a
49	POLR2A	chr2:74425342-74426610	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:74425401-74426507	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74425610-74425660	HIPEpiC	eye:	n/a
2	chr2:74425610-74425660	ProgFib	skin:	n/a
3	chr2:74425610-74425660	HAEpiC	amniotic membrane:	n/a
4	chr2:74425610-74425660	K562	blood:	n/a
5	chr2:74425610-74425660	SK-N-SH	brain:	n/a
6	chr2:74425610-74425660	MCF10A-Er-Src	breast:	n/a
7	chr2:74425610-74425660	LNCaP	prostate:	n/a
8	chr2:74425610-74425660	GM12891	blood:	n/a
9	chr2:74425610-74425660	SAEC	small airway:	n/a
10	chr2:74425610-74425660	AG04449	skin:	fetal
11	chr2:74425610-74425660	GM12892	blood:	n/a
12	chr2:74425610-74425660	AoSMC	blood vessel:	n/a
13	chr2:74425610-74425660	IMR90	lung:	fetal
14	chr2:74425610-74425660	NH-A	brain:	n/a
15	chr2:74425610-74425660	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:74425610-74425660	H1-hESC	embryonic stem cell:	embryo
17	chr2:74425610-74425660	NHDF-neo	bronchial:	n/a
18	chr2:74425610-74425660	HL-60	blood:	n/a
19	chr2:74425610-74425660	HRE	kidney:	n/a
20	chr2:74425610-74425660	SK-N-MC	brain:	n/a
21	chr2:74425610-74425660	HCT-116	colon:	n/a
22	chr2:74425610-74425660	GM12878	blood:	n/a
23	chr2:74425610-74425660	Hela-S3	cervix:	n/a
24	chr2:74425610-74425660	HepG2	liver:	n/a
25	chr2:74425610-74425660	HRPEpiC	eye:	n/a
26	chr2:74425610-74425660	U87	brain:	n/a
27	chr2:74425610-74425660	Hepatocyte	liver:	n/a
28	chr2:74425610-74425660	NT2-D1	testis:	n/a
29	chr2:74425610-74425660	SKMC	muscle:	n/a
30	chr2:74425610-74425660	GM06990	blood:	n/a
31	chr2:74425610-74425660	HRCEpiC	kidney:	n/a
32	chr2:74425610-74425660	SK-N-SH_RA	brain:	n/a
33	chr2:74425610-74425660	HCF	heart:	n/a
34	chr2:74425610-74425660	AG09309	skin:	n/a
35	chr2:74425610-74425660	T-47D	breast:	n/a
36	chr2:74425610-74425660	AG10803	skin:	n/a
37	chr2:74425610-74425660	HNPCEpiC	eye:	n/a
38	chr2:74425610-74425660	PFSK-1	brain:	n/a
39	chr2:74425610-74425660	PANC-1	pancreas:	n/a
40	chr2:74425610-74425660	CMK	blood:	n/a
41	chr2:74425610-74425660	Jurkat	blood:	n/a
42	chr2:74425610-74425660	PrEC	prostate:	n/a
43	chr2:74425610-74425660	HUVEC	blood vessel:	n/a
44	chr2:74425610-74425660	HMEC	breast:	n/a
45	chr2:74425610-74425660	HEEpiC	esophagus:	n/a
46	chr2:74425610-74425660	NB4	blood:	n/a
47	chr2:74425610-74425660	NHBE	bronchial:	n/a
48	chr2:74425610-74425660	BE2_C	brain:	n/a
49	chr2:74425610-74425660	ovcar-3	ovarian:	n/a
50	chr2:74425610-74425660	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
2	chr2:74397813..74400618-chr2:74425096..74427227,2	MCF-7	breast:
3	chr2:74229598..74231793-chr2:74423826..74425705,2	MCF-7	breast:
4	chr2:74425407..74426106-chr7:139043916..139044907,2	Hela-S3	cervix:
5	chr2:74423959..74426234-chr2:74728911..74730811,4	K562	blood:
6	chr2:74425417..74426404-chr3:129158834..129159727,2	Hela-S3	cervix:
7	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
8	chr10:69865624..69866375-chr2:74425502..74426074,2	Hela-S3	cervix:
9	chr2:74424267..74426205-chr2:74476345..74478878,2	MCF-7	breast:
10	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
11	chr1:17231207..17231977-chr2:74425262..74426115,2	Hela-S3	cervix:
12	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
13	chr12:123716997..123718069-chr2:74425440..74426291,3	Hela-S3	cervix:
14	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
15	chr2:74425505..74426095-chr9:132387975..132388623,2	HCT-116	colon:
16	chr1:245133242..245133885-chr2:74425551..74426096,2	Hela-S3	cervix:
17	chr12:44199977..44200674-chr2:74425407..74426047,2	Hela-S3	cervix:
18	chr2:74207001..74208760-chr2:74424534..74426983,2	MCF-7	breast:
19	chr2:74425262..74426237-chr3:152878862..152879670,2	Hela-S3	cervix:
20	chr2:74424191..74425916-chr2:74756142..74757676,2	K562	blood:
21	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:
22	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
23	chr2:74425544..74426237-chr3:146262234..146262977,2	HCT-116	colon:
24	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
25	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
26	chr2:74424051..74426811-chr2:74698289..74699842,2	K562	blood:
27	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
28	chr2:70474300..70476010-chr2:74425086..74427530,2	MCF-7	breast:
29	chr2:74425051..74425749-chr3:167813517..167814121,2	Hela-S3	cervix:
30	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
31	chr2:74346224..74348120-chr2:74425405..74427108,2	MCF-7	breast:
32	chr1:210547014..210547912-chr2:74425635..74426185,2	HCT-116	colon:
33	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
34	chr15:66796682..66797225-chr2:74425336..74426277,2	Hela-S3	cervix:
35	chr2:74425525..74426060-chr21:34914349..34915114,2	Hela-S3	cervix:
36	chr2:74425419..74425988-chr9:132934675..132935211,2	Hela-S3	cervix:
37	chr2:74423897..74425896-chr2:74778164..74780154,2	K562	blood:
38	chr2:74424209..74427112-chr2:74756176..74758593,3	K562	blood:
39	chr2:74398418..74401052-chr2:74424457..74426717,2	MCF-7	breast:
40	chr2:74425489..74426008-chr9:35102578..35103177,2	Hela-S3	cervix:
41	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:
42	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
43	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
44	chr16:56715933..56716914-chr2:74425591..74426161,2	HCT-116	colon:
45	chr2:74425474..74426159-chr20:62258160..62259047,2	Hela-S3	cervix:
46	chr2:74425440..74425940-chr7:72992543..72993531,2	NB4	blood:
47	chr15:65278048..65279846-chr2:74424472..74426316,2	K562	blood:
48	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:
49	chr2:74400907..74407799-chr2:74422654..74428562,23	MCF-7	breast:
50	chr2:74425539..74426148-chrX:12992455..12993356,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC4A5-1	chr2:74423831-74425682	NONHSAT071675

No data

Variant related genes	Relation type
MTHFD2	TF binding region
MTHFD2	CpG island
ENSG00000138347	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000165283	Chromatin interaction
ENSG00000148335	Chromatin interaction
ENSG00000273391	Chromatin interaction
ENSG00000205542	Chromatin interaction
ENSG00000232442	Chromatin interaction
ENSG00000173905	Chromatin interaction
ENSG00000090487	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000187193	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000129071	Chromatin interaction
ENSG00000257702	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000204822	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000203666	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000106638	Chromatin interaction
ENSG00000163913	Chromatin interaction
ENSG00000267958	Chromatin interaction
ENSG00000107130	Chromatin interaction
ENSG00000159140	Chromatin interaction
ENSG00000101216	Chromatin interaction
ENSG00000146963	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000244268	Chromatin interaction
ENSG00000179528	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000159131	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000115317	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000116001	Chromatin interaction
ENSG00000188313	Chromatin interaction
ENSG00000115318	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	esv3342573	chr2:74424669-74427217	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 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	chr2:74425000-74426400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:74425000-74426600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:74425000-74426800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:74425000-74427200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:74425000-74427400	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:74425000-74427600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:74425000-74428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:74425000-74428800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:74425200-74425800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr2:74425200-74425800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:74425200-74425800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:74425200-74426000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr2:74425200-74426000	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr2:74425200-74426800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:74425200-74426800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:74425200-74427000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:74425200-74427000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:74425200-74427000	Active TSS	Fetal Kidney	kidney
19	chr2:74425200-74427000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:74425200-74427000	Active TSS	A549	lung
21	chr2:74425200-74427000	Active TSS	HSMM	muscle
22	chr2:74425200-74427000	Active TSS	HSMMtube	muscle
23	chr2:74425200-74427000	Active TSS	NHLF	lung
24	chr2:74425200-74427200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:74425200-74427200	Active TSS	Colonic Mucosa	Colon
26	chr2:74425200-74427200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr2:74425200-74427200	Active TSS	Stomach Smooth Muscle	stomach
28	chr2:74425200-74427400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:74425200-74427400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:74425200-74427400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr2:74425200-74427400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:74425200-74427400	Active TSS	Fetal Brain Female	brain
33	chr2:74425200-74427600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr2:74425200-74427600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr2:74425200-74427600	Active TSS	Right Ventricle	heart
36	chr2:74425200-74428000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr2:74425200-74428000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:74425200-74428600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr2:74425200-74428600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:74425400-74425800	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:74425400-74426000	Flanking Active TSS	Fetal Thymus	thymus
42	chr2:74425400-74426400	Active TSS	Pancreas	Pancrea
43	chr2:74425400-74426600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr2:74425400-74426600	Active TSS	Duodenum Mucosa	Duodenum
45	chr2:74425400-74426800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:74425400-74427000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr2:74425400-74427000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:74425400-74427000	Active TSS	Psoas Muscle	Psoas
49	chr2:74425400-74427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:74425400-74427200	Flanking Active TSS	Placenta	Placenta

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