Variant report

Variant	rs529485495
Chromosome Location	chr2:74425231-74425232
allele	C/T
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	CHD2	chr2:74425210-74425926	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr2:74425181-74425993	HepG2	liver:	n/a	n/a
6	MXI1	chr2:74425075-74427471	IMR90	lung:	n/a	n/a
7	BCL3	chr2:74425066-74426735	A549	lung:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
8	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
9	CREB1	chr2:74425181-74426654	GM12878	blood:	n/a	chr2:74426013-74426026
10	E2F6	chr2:74425107-74426601	H1-hESC	embryonic stem cell:	n/a	chr2:74426374-74426383 chr2:74425688-74425698 chr2:74425735-74425746 chr2:74425684-74425693
11	POLR2A	chr2:74425231-74426615	HUVEC	blood vessel:	n/a	n/a
12	SIX5	chr2:74425227-74426430	A549	lung:	n/a	n/a
13	CTCF	chr2:74425213-74425297	GM13976	blood:	n/a	n/a
14	JUN	chr2:74423469-74427661	K562	blood:	n/a	chr2:74425683-74425692 chr2:74426151-74426160
15	NFYA	chr2:74425227-74425846	K562	blood:	n/a	n/a
16	POLR2A	chr2:74425200-74426778	PFSK-1	brain:	n/a	n/a
17	SIN3AK20	chr2:74425147-74426807	A549	lung:	n/a	n/a
18	MAX	chr2:74425185-74425928	H1-hESC	embryonic stem cell:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726
19	MAX	chr2:74424969-74427281	A549	lung:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426955-74426964 chr2:74426338-74426347
20	NFIC	chr2:74425224-74426665	ECC-1	luminal epithelium:	n/a	chr2:74425550-74425578
21	MAX	chr2:74425174-74426604	GM12878	blood:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
22	GATA3	chr2:74425198-74426700	A549	lung:	n/a	n/a
23	PBX3	chr2:74425206-74426647	A549	lung:	n/a	n/a
24	MAX	chr2:74425134-74426824	ECC-1	luminal epithelium:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
25	TBL1XR1	chr2:74425202-74425897	K562	blood:	n/a	n/a
26	ATF3	chr2:74425155-74425970	A549	lung:	n/a	n/a
27	TAL1	chr2:74424993-74426660	K562	blood:	n/a	n/a
28	KAP1	chr2:74425194-74426643	HEK293	kidney:	n/a	n/a
29	MAX	chr2:74425175-74426826	HepG2	liver:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
30	TAF1	chr2:74425227-74425985	PFSK-1	brain:	n/a	n/a
31	USF2	chr2:74424969-74426587	H1-hESC	embryonic stem cell:	n/a	chr2:74426319-74426335
32	MYC	chr2:74424939-74426664	MCF10A-Er-Src	breast:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
33	TEAD4	chr2:74425164-74425955	K562	blood:	n/a	n/a
34	SPI1	chr2:74425231-74426467	HL-60	blood:	n/a	n/a
35	TCF12	chr2:74425033-74426734	A549	lung:	n/a	n/a
36	MAX	chr2:74425052-74426959	HCT-116	colon:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
37	MAX	chr2:74425146-74426831	MCF-7	breast:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
38	MAX	chr2:74425118-74426654	H1-hESC	embryonic stem cell:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
39	REST	chr2:74425100-74426702	A549	lung:	n/a	chr2:74426320-74426333 chr2:74425678-74425691 chr2:74426383-74426396 chr2:74426224-74426244 chr2:74425916-74425929
40	MAX	chr2:74425163-74426588	H1-hESC	embryonic stem cell:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
41	PML	chr2:74424977-74426838	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:74425113-74425294	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr2:74424936-74426862	K562	blood:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
44	TEAD4	chr2:74425125-74425978	K562	blood:	n/a	n/a
45	CTCF	chr2:74424586-74427336	A549	lung:	n/a	chr2:74426386-74426399
46	POLR2A	chr2:74425226-74426777	HCT-116	colon:	n/a	n/a
47	E2F6	chr2:74425072-74426632	A549	lung:	n/a	chr2:74426374-74426383 chr2:74425688-74425698 chr2:74425735-74425746 chr2:74425684-74425693
48	POLR2A	chr2:74425152-74426866	K562	blood:	n/a	n/a
49	CEBPB	chr2:74424968-74426020	GM12878	blood:	n/a	n/a
50	SIN3AK20	chr2:74425010-74426805	MCF-7	breast:	n/a	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
ENSG00000115317	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000267958	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000179528	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000173905	Chromatin interaction
ENSG00000204822	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000257702	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000115318	Chromatin interaction
ENSG00000116001	Chromatin interaction
ENSG00000090487	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74424400-74425400	Enhancers	Pancreas	Pancrea
2	chr2:74425000-74425400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr2:74425000-74425400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:74425000-74425400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:74425000-74425400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:74425000-74425400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:74425000-74425400	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:74425000-74425400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:74425000-74425600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:74425000-74425600	Flanking Active TSS	Dnd41	blood
11	chr2:74425000-74425600	Flanking Active TSS	Hela-S3	cervix
12	chr2:74425000-74425600	Flanking Active TSS	K562	blood
13	chr2:74425000-74426400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr2:74425000-74426600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:74425000-74426800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:74425000-74427200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:74425000-74427400	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:74425000-74427600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:74425000-74428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:74425000-74428800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:74425200-74425400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:74425200-74425400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr2:74425200-74425400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:74425200-74425400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:74425200-74425400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:74425200-74425400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:74425200-74425400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:74425200-74425400	Enhancers	Brain Germinal Matrix	brain
29	chr2:74425200-74425400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr2:74425200-74425400	Enhancers	Fetal Brain Male	brain
31	chr2:74425200-74425400	Flanking Active TSS	Fetal Heart	heart
32	chr2:74425200-74425400	Enhancers	Placenta	Placenta
33	chr2:74425200-74425400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr2:74425200-74425400	Enhancers	Fetal Thymus	thymus
35	chr2:74425200-74425400	Flanking Active TSS	HMEC	breast
36	chr2:74425200-74425600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:74425200-74425600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:74425200-74425600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:74425200-74425600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:74425200-74425600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:74425200-74425600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr2:74425200-74425600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr2:74425200-74425600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:74425200-74425600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:74425200-74425600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:74425200-74425600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:74425200-74425600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:74425200-74425600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr2:74425200-74425600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:74425200-74425600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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