Variant report

Variant	rs369342441
Chromosome Location	chr2:74425426-74425427
allele	-/CTTTT
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	MYC	chr2:74425396-74426479	K562	blood:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
2	MAX	chr2:74425065-74426730	A549	lung:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726 chr2:74426338-74426347
3	CREB1	chr2:74425298-74426700	H1-hESC	embryonic stem cell:	n/a	chr2:74426013-74426026
4	NR2F2	chr2:74424888-74426757	K562	blood:	n/a	n/a
5	USF1	chr2:74424996-74425887	A549	lung:	n/a	n/a
6	ELF1	chr2:74425292-74426620	GM12878	blood:	n/a	chr2:74426219-74426231
7	JUND	chr2:74425253-74426533	K562	blood:	n/a	chr2:74425683-74425692 chr2:74426151-74426160
8	POLR2A	chr2:74425301-74426702	K562	blood:	n/a	n/a
9	POLR2A	chr2:74425241-74427579	HL-60	blood:	n/a	n/a
10	CHD2	chr2:74425210-74425926	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr2:74425181-74425993	HepG2	liver:	n/a	n/a
12	MXI1	chr2:74425075-74427471	IMR90	lung:	n/a	n/a
13	TBP	chr2:74425290-74425960	GM12878	blood:	n/a	n/a
14	MAX	chr2:74425345-74425927	HUVEC	blood vessel:	n/a	chr2:74425716-74425723 chr2:74425716-74425725 chr2:74425716-74425726
15	TAF7	chr2:74425362-74426737	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF2	chr2:74425353-74425933	K562	blood:	n/a	n/a
17	MXI1	chr2:74425282-74426712	GM12878	blood:	n/a	n/a
18	BCL3	chr2:74425066-74426735	A549	lung:	n/a	chr2:74426374-74426387 chr2:74426064-74426073 chr2:74426213-74426226 chr2:74426317-74426326 chr2:74426030-74426039
19	SP1	chr2:74425256-74425904	GM12878	blood:	n/a	chr2:74425683-74425695 chr2:74425685-74425694 chr2:74425680-74425694 chr2:74425684-74425693 chr2:74425683-74425695
20	STAT3	chr2:74425418-74425802	MCF10A-Er-Src	breast:	n/a	chr2:74425483-74425490
21	POLR2A	chr2:74425324-74426720	K562	blood:	n/a	n/a
22	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
23	USF1	chr2:74425337-74425978	ECC-1	luminal epithelium:	n/a	n/a
24	SPI1	chr2:74425364-74425594	K562	blood:	n/a	n/a
25	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
26	CREB1	chr2:74425181-74426654	GM12878	blood:	n/a	chr2:74426013-74426026
27	E2F6	chr2:74425107-74426601	H1-hESC	embryonic stem cell:	n/a	chr2:74426374-74426383 chr2:74425688-74425698 chr2:74425735-74425746 chr2:74425684-74425693
28	FOXM1	chr2:74425306-74426996	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:74425377-74426662	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr2:74425322-74426904	GM12891	blood:	n/a	n/a
31	POLR2A	chr2:74425231-74426615	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr2:74425291-74426667	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:74425342-74426610	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:74425401-74426507	HepG2	liver:	n/a	n/a
35	IRF1	chr2:74425301-74425973	K562	blood:	n/a	chr2:74425683-74425697
36	USF1	chr2:74425304-74425893	A549	lung:	n/a	n/a
37	POLR2A	chr2:74425334-74426596	A549	lung:	n/a	n/a
38	USF1	chr2:74425361-74426017	ECC-1	luminal epithelium:	n/a	n/a
39	RFX5	chr2:74425370-74425839	K562	blood:	n/a	n/a
40	GTF2F1	chr2:74425362-74426459	K562	blood:	n/a	n/a
41	SIX5	chr2:74425227-74426430	A549	lung:	n/a	n/a
42	USF1	chr2:74425390-74425850	SK-N-SH_RA	brain:	n/a	n/a
43	POLR2A	chr2:74425325-74426640	GM18951	blood:	n/a	n/a
44	TAF1	chr2:74425379-74425926	SK-N-SH	brain:	n/a	n/a
45	CHD1	chr2:74425301-74426738	GM12878	blood:	n/a	n/a
46	JUN	chr2:74423469-74427661	K562	blood:	n/a	chr2:74425683-74425692 chr2:74426151-74426160
47	POLR2A	chr2:74425409-74426576	A549	lung:	n/a	n/a
48	FOXA1	chr2:74425381-74425861	T-47D	breast:	n/a	n/a
49	POLR2A	chr2:74425398-74426058	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr2:74425317-74426546	PANC-1	pancreas:	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	chr2:74425407..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	chr2:74424267..74426205-chr2:74476345..74478878,2	MCF-7	breast:
9	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
10	chr1:17231207..17231977-chr2:74425262..74426115,2	Hela-S3	cervix:
11	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
12	chr2:74366917..74386173-chr2:74421816..74431613,38	K562	blood:
13	chr12:44199977..44200674-chr2:74425407..74426047,2	Hela-S3	cervix:
14	chr2:74207001..74208760-chr2:74424534..74426983,2	MCF-7	breast:
15	chr2:74425262..74426237-chr3:152878862..152879670,2	Hela-S3	cervix:
16	chr2:74424191..74425916-chr2:74756142..74757676,2	K562	blood:
17	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:
18	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
19	chr2:74367938..74377304-chr2:74421816..74428438,25	K562	blood:
20	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
21	chr2:74424051..74426811-chr2:74698289..74699842,2	K562	blood:
22	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
23	chr2:70474300..70476010-chr2:74425086..74427530,2	MCF-7	breast:
24	chr2:74425051..74425749-chr3:167813517..167814121,2	Hela-S3	cervix:
25	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
26	chr2:74346224..74348120-chr2:74425405..74427108,2	MCF-7	breast:
27	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
28	chr15:66796682..66797225-chr2:74425336..74426277,2	Hela-S3	cervix:
29	chr2:74425419..74425988-chr9:132934675..132935211,2	Hela-S3	cervix:
30	chr2:74423897..74425896-chr2:74778164..74780154,2	K562	blood:
31	chr2:74424209..74427112-chr2:74756176..74758593,3	K562	blood:
32	chr2:74398418..74401052-chr2:74424457..74426717,2	MCF-7	breast:
33	chr2:74398845..74401491-chr2:74424210..74427393,3	K562	blood:
34	chr2:74346058..74349268-chr2:74424477..74426947,5	K562	blood:
35	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
36	chr15:65278048..65279846-chr2:74424472..74426316,2	K562	blood:
37	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:
38	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
ENSG00000146963	Chromatin interaction
ENSG00000107130	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000179528	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000116001	Chromatin interaction
ENSG00000115307	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000173905	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000115318	Chromatin interaction
ENSG00000267958	Chromatin interaction
ENSG00000257702	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000244268	Chromatin interaction
ENSG00000129071	Chromatin interaction
ENSG00000090487	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000273391	Chromatin interaction
ENSG00000163913	Chromatin interaction
ENSG00000115317	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000217702	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000204822	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74425000-74425600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:74425000-74425600	Flanking Active TSS	Dnd41	blood
3	chr2:74425000-74425600	Flanking Active TSS	Hela-S3	cervix
4	chr2:74425000-74425600	Flanking Active TSS	K562	blood
5	chr2:74425000-74426400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:74425000-74426600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:74425000-74426800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:74425000-74427200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:74425000-74427400	Active TSS	Rectal Smooth Muscle	rectum
10	chr2:74425000-74427600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:74425000-74428600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:74425000-74428800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:74425200-74425600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:74425200-74425600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:74425200-74425600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:74425200-74425600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:74425200-74425600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr2:74425200-74425600	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr2:74425200-74425600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr2:74425200-74425600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:74425200-74425600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr2:74425200-74425600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:74425200-74425600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr2:74425200-74425600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr2:74425200-74425600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr2:74425200-74425600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:74425200-74425600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:74425200-74425600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:74425200-74425600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr2:74425200-74425600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr2:74425200-74425600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:74425200-74425600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr2:74425200-74425600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:74425200-74425600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:74425200-74425600	Enhancers	Liver	Liver
36	chr2:74425200-74425600	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr2:74425200-74425600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr2:74425200-74425600	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr2:74425200-74425600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr2:74425200-74425600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:74425200-74425600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:74425200-74425600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr2:74425200-74425600	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr2:74425200-74425600	Enhancers	Esophagus	oesophagus
45	chr2:74425200-74425600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr2:74425200-74425600	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr2:74425200-74425600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr2:74425200-74425600	Flanking Active TSS	Fetal Lung	lung
49	chr2:74425200-74425600	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr2:74425200-74425600	Enhancers	Gastric	stomach

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