Variant report

Variant	rs563693094
Chromosome Location	chr2:74425130-74425131
allele	C/G
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	MAX	chr2:74425065-74426730	A549	lung:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
2	NR2F2	chr2:74424888-74426757	K562	blood:	n/a	n/a
3	USF1	chr2:74424996-74425887	A549	lung:	n/a	n/a
4	MXI1	chr2:74425075-74427471	IMR90	lung:	n/a	n/a
5	BCL3	chr2:74425066-74426735	A549	lung:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
6	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
7	E2F6	chr2:74425107-74426601	H1-hESC	embryonic stem cell:	n/a	chr2:74426374-74426383 chr2:74425688-74425698 chr2:74425735-74425746 chr2:74425684-74425693
8	JUN	chr2:74423469-74427661	K562	blood:	n/a	chr2:74425683-74425692 chr2:74426151-74426160
9	MAX	chr2:74424969-74427281	A549	lung:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426955-74426964 chr2:74426338-74426347
10	TAL1	chr2:74424993-74426660	K562	blood:	n/a	n/a
11	USF2	chr2:74424969-74426587	H1-hESC	embryonic stem cell:	n/a	chr2:74426319-74426335
12	MYC	chr2:74424939-74426664	MCF10A-Er-Src	breast:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
13	TCF12	chr2:74425033-74426734	A549	lung:	n/a	n/a
14	MAX	chr2:74425052-74426959	HCT-116	colon:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
15	MAX	chr2:74425118-74426654	H1-hESC	embryonic stem cell:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
16	REST	chr2:74425100-74426702	A549	lung:	n/a	chr2:74426320-74426333 chr2:74425678-74425691 chr2:74426383-74426396 chr2:74426224-74426244 chr2:74425916-74425929
17	PML	chr2:74424977-74426838	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:74425113-74425294	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr2:74424936-74426862	K562	blood:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
20	TEAD4	chr2:74425125-74425978	K562	blood:	n/a	n/a
21	CTCF	chr2:74424586-74427336	A549	lung:	n/a	chr2:74426386-74426399
22	E2F6	chr2:74425072-74426632	A549	lung:	n/a	chr2:74426374-74426383 chr2:74425688-74425698 chr2:74425735-74425746 chr2:74425684-74425693
23	CEBPB	chr2:74424968-74426020	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr2:74425010-74426805	MCF-7	breast:	n/a	n/a
25	NFIC	chr2:74425009-74426573	GM12878	blood:	n/a	chr2:74425550-74425578
26	POLR2A	chr2:74425120-74426826	PANC-1	pancreas:	n/a	n/a
27	CREB1	chr2:74425125-74426712	HepG2	liver:	n/a	chr2:74426013-74426026
28	SP1	chr2:74425073-74426615	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
29	POLR2A	chr2:74424020-74429252	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr2:74425067-74427721	SK-N-SH	brain:	n/a	n/a
31	SETDB1	chr2:74424992-74425813	U2OS	brain:	n/a	chr2:74425728-74425737
32	POLR2A	chr2:74425055-74427423	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:74425130-74427566	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr2:74424965-74427569	H1-hESC	embryonic stem cell:	n/a	n/a
35	RFX5	chr2:74424631-74427599	SK-N-SH	brain:	n/a	n/a
36	KAP1	chr2:74424955-74425575	K562	blood:	n/a	n/a
37	CBX3	chr2:74424919-74426515	K562	blood:	n/a	n/a
38	TAF1	chr2:74424986-74426571	A549	lung:	n/a	n/a
39	SIN3AK20	chr2:74425083-74426789	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:74425101-74427526	A549	lung:	n/a	n/a
41	HCFC1	chr2:74424892-74426830	Hela-S3	cervix:	n/a	n/a
42	MAX	chr2:74425113-74426577	A549	lung:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
43	MYC	chr2:74425008-74427518	A549	lung:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74427347-74427356 chr2:74425716-74425726 chr2:74426955-74426964 chr2:74426338-74426347
44	POLR2A	chr2:74425114-74427443	K562	blood:	n/a	n/a
45	HEY1	chr2:74425045-74427400	K562	blood:	n/a	chr2:74426123-74426138
46	MTA3	chr2:74425007-74427570	GM12878	blood:	n/a	n/a
47	YY1	chr2:74425110-74425472	A549	lung:	n/a	n/a
48	POLR2A	chr2:74424999-74427582	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74425085-74425135	SK-N-MC	brain:	n/a
2	chr2:74425085-74425135	HRE	kidney:	n/a
3	chr2:74425085-74425135	LNCaP	prostate:	n/a
4	chr2:74425085-74425135	NHBE	bronchial:	n/a
5	chr2:74425085-74425135	GM19239	blood:	n/a
6	chr2:74425085-74425135	HCF	heart:	n/a
7	chr2:74425085-74425135	SK-N-SH_RA	brain:	n/a
8	chr2:74425085-74425135	IMR90	lung:	fetal
9	chr2:74425085-74425135	Hepatocyte	liver:	n/a
10	chr2:74425085-74425135	HCM	heart:	n/a
11	chr2:74425085-74425135	PANC-1	pancreas:	n/a
12	chr2:74425085-74425135	ovcar-3	ovarian:	n/a
13	chr2:74425085-74425135	RPTEC	kidney:	n/a
14	chr2:74425085-74425135	AG04450	lung:	fetal
15	chr2:74425085-74425135	PrEC	prostate:	n/a
16	chr2:74425085-74425135	HepG2	liver:	n/a
17	chr2:74425085-74425135	PFSK-1	brain:	n/a
18	chr2:74425085-74425135	AG04449	skin:	fetal
19	chr2:74425085-74425135	HCPEpiC	choroid plexus:	n/a
20	chr2:74425085-74425135	HEEpiC	esophagus:	n/a
21	chr2:74425085-74425135	U87	brain:	n/a
22	chr2:74425085-74425135	NH-A	brain:	n/a
23	chr2:74425085-74425135	HRPEpiC	eye:	n/a
24	chr2:74425085-74425135	SK-N-SH	brain:	n/a
25	chr2:74425085-74425135	HAEpiC	amniotic membrane:	n/a
26	chr2:74425085-74425135	Hela-S3	cervix:	n/a
27	chr2:74425085-74425135	SAEC	small airway:	n/a
28	chr2:74425085-74425135	NHDF-neo	bronchial:	n/a
29	chr2:74425085-74425135	HCT-116	colon:	n/a
30	chr2:74425085-74425135	HIPEpiC	eye:	n/a
31	chr2:74425085-74425135	A549	lung:	n/a
32	chr2:74425085-74425135	NT2-D1	testis:	n/a
33	chr2:74425085-74425135	HRCEpiC	kidney:	n/a
34	chr2:74425085-74425135	ECC-1	luminal epithelium:	n/a
35	chr2:74425085-74425135	H1-hESC	embryonic stem cell:	embryo
36	chr2:74425085-74425135	GM12878	blood:	n/a
37	chr2:74425085-74425135	ProgFib	skin:	n/a
38	chr2:74425085-74425135	HMEC	breast:	n/a
39	chr2:74425085-74425135	SKMC	muscle:	n/a
40	chr2:74425085-74425135	Caco-2	colon:	n/a
41	chr2:74425085-74425135	AG09309	skin:	n/a
42	chr2:74425085-74425135	K562	blood:	n/a
43	chr2:74425085-74425135	T-47D	breast:	n/a
44	chr2:74425085-74425135	NB4	blood:	n/a
45	chr2:74425085-74425135	GM12892	blood:	n/a
46	chr2:74425085-74425135	GM06990	blood:	n/a
47	chr2:74425085-74425135	MCF-7	breast:	n/a
48	chr2:74425085-74425135	BJ	skin:	n/a
49	chr2:74425085-74425135	GM12891	blood:	n/a
50	chr2:74425085-74425135	AG10803	skin:	n/a

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	chr2:74423959..74426234-chr2:74728911..74730811,4	K562	blood:
5	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
6	chr2:74424267..74426205-chr2:74476345..74478878,2	MCF-7	breast:
7	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
8	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
9	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
10	chr2:74207001..74208760-chr2:74424534..74426983,2	MCF-7	breast:
11	chr2:74424191..74425916-chr2:74756142..74757676,2	K562	blood:
12	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:
13	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
14	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
15	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
16	chr2:74424051..74426811-chr2:74698289..74699842,2	K562	blood:
17	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
18	chr2:70474300..70476010-chr2:74425086..74427530,2	MCF-7	breast:
19	chr2:74425051..74425749-chr3:167813517..167814121,2	Hela-S3	cervix:
20	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
21	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
22	chr2:74423897..74425896-chr2:74778164..74780154,2	K562	blood:
23	chr2:74424209..74427112-chr2:74756176..74758593,3	K562	blood:
24	chr2:74398418..74401052-chr2:74424457..74426717,2	MCF-7	breast:
25	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:
26	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
27	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
28	chr15:65278048..65279846-chr2:74424472..74426316,2	K562	blood:
29	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:
30	chr2:74400907..74407799-chr2:74422654..74428562,23	MCF-7	breast:

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

Variant related genes	Relation type
MTHFD2	TF binding region
MTHFD2	CpG island
ENSG00000114978	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000090487	Chromatin interaction
ENSG00000267958	Chromatin interaction
ENSG00000179528	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000204822	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000173905	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000257702	Chromatin interaction
ENSG00000115318	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000115317	Chromatin interaction
ENSG00000116001	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:74417600-74425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:74419600-74425200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:74419800-74425200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:74420000-74425200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:74423600-74425200	Enhancers	HepG2	liver
8	chr2:74424000-74425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:74424400-74425200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:74424400-74425400	Enhancers	Pancreas	Pancrea
11	chr2:74424600-74425200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:74424800-74425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:74424800-74425200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:74425000-74425200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:74425000-74425200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:74425000-74425200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:74425000-74425200	Enhancers	Primary B cells from cord blood	blood
18	chr2:74425000-74425200	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:74425000-74425200	Enhancers	Primary T cells from cord blood	blood
20	chr2:74425000-74425200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:74425000-74425200	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:74425000-74425200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:74425000-74425200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:74425000-74425200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:74425000-74425200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:74425000-74425200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:74425000-74425200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:74425000-74425200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:74425000-74425200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:74425000-74425200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:74425000-74425200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:74425000-74425200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:74425000-74425200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:74425000-74425200	Enhancers	Brain Angular Gyrus	brain
35	chr2:74425000-74425200	Enhancers	Brain Anterior Caudate	brain
36	chr2:74425000-74425200	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:74425000-74425200	Enhancers	Brain Hippocampus Middle	brain
38	chr2:74425000-74425200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:74425000-74425200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:74425000-74425200	Enhancers	Brain Substantia Nigra	brain
41	chr2:74425000-74425200	Enhancers	Fetal Heart	heart
42	chr2:74425000-74425200	Enhancers	Fetal Muscle Trunk	muscle
43	chr2:74425000-74425200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:74425000-74425200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:74425000-74425200	Enhancers	Stomach Mucosa	stomach
46	chr2:74425000-74425200	Enhancers	Thymus	Thymus
47	chr2:74425000-74425200	Flanking Active TSS	A549	lung
48	chr2:74425000-74425200	Enhancers	HMEC	breast
49	chr2:74425000-74425200	Enhancers	HUVEC	blood vessel
50	chr2:74425000-74425200	Enhancers	NH-A	brain

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