Variant report

Variant	rs537388575
Chromosome Location	chr2:178128133-178128134
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	REST	chr2:178128061-178130300	K562	blood:	n/a	chr2:178128776-178128796 chr2:178130030-178130039
2	CEBPB	chr2:178127915-178128536	ECC-1	luminal epithelium:	n/a	chr2:178128228-178128239
3	POLR2A	chr2:178128095-178130334	GM12878	blood:	n/a	n/a
4	MAZ	chr2:178128032-178130868	K562	blood:	n/a	chr2:178129585-178129594 chr2:178128795-178128804 chr2:178128986-178128995 chr2:178130083-178130094 chr2:178128361-178128370 chr2:178129923-178129933
5	MYC	chr2:178128027-178130971	K562	blood:	n/a	chr2:178129585-178129594 chr2:178128795-178128804 chr2:178128986-178128995 chr2:178130083-178130094 chr2:178128361-178128370 chr2:178129923-178129933
6	TEAD4	chr2:178127801-178129231	K562	blood:	n/a	n/a
7	ETS1	chr2:178128041-178128560	GM12878	blood:	n/a	chr2:178128277-178128286
8	CTCF	chr2:178128083-178128954	K562	blood:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
9	BHLHE40	chr2:178128056-178130373	K562	blood:	n/a	chr2:178129533-178129549 chr2:178129620-178129636
10	PML	chr2:178128006-178128639	MCF-7	breast:	n/a	n/a
11	FOSL2	chr2:178128024-178128600	HepG2	liver:	n/a	n/a
12	ZEB1	chr2:178128103-178128598	GM12878	blood:	n/a	n/a
13	CEBPB	chr2:178127830-178128978	ECC-1	luminal epithelium:	n/a	chr2:178128228-178128239
14	POLR2A	chr2:178127987-178130384	NB4	blood:	n/a	n/a
15	POLR2A	chr2:178127927-178130404	Hela-S3	cervix:	n/a	n/a
16	TAF1	chr2:178128032-178129943	GM12878	blood:	n/a	n/a
17	ELF1	chr2:178128064-178129070	K562	blood:	n/a	chr2:178128535-178128547
18	GATA3	chr2:178127986-178128576	MCF-7	breast:	n/a	n/a
19	WRNIP1	chr2:178127920-178128490	GM12878	blood:	n/a	n/a
20	MAX	chr2:178128109-178128873	H1-hESC	embryonic stem cell:	n/a	chr2:178128795-178128804 chr2:178128361-178128370
21	MYC	chr2:178128058-178129069	K562	blood:	n/a	chr2:178128795-178128804 chr2:178128986-178128995 chr2:178128361-178128370
22	MAX	chr2:178127957-178129059	MCF-7	breast:	n/a	chr2:178128795-178128804 chr2:178128986-178128995 chr2:178128361-178128370
23	STAT3	chr2:178128005-178128495	MCF10A-Er-Src	breast:	n/a	chr2:178128022-178128033
24	YY1	chr2:178128051-178130337	GM12878	blood:	n/a	chr2:178128858-178128872 chr2:178129538-178129552 chr2:178128901-178128910 chr2:178128839-178128850 chr2:178129471-178129482 chr2:178129535-178129546
25	MAX	chr2:178128046-178128561	Hela-S3	cervix:	n/a	chr2:178128361-178128370
26	TAF1	chr2:178127973-178130329	ECC-1	luminal epithelium:	n/a	n/a
27	YY1	chr2:178128060-178128901	SK-N-SH	brain:	n/a	chr2:178128858-178128872 chr2:178128839-178128850
28	MYBL2	chr2:178127716-178128865	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:178127938-178128464	K562	blood:	n/a	chr2:178128228-178128239
30	ATF2	chr2:178127815-178128605	GM12878	blood:	n/a	n/a
31	RELA	chr2:178128057-178128579	GM19099	blood:	n/a	n/a
32	POLR2A	chr2:178128124-178130270	A549	lung:	n/a	n/a
33	MTA3	chr2:178127833-178130490	GM12878	blood:	n/a	n/a
34	YY1	chr2:178128132-178130375	GM12878	blood:	n/a	chr2:178128858-178128872 chr2:178129538-178129552 chr2:178128901-178128910 chr2:178128839-178128850 chr2:178129471-178129482 chr2:178129535-178129546
35	JUND	chr2:178128072-178131546	K562	blood:	n/a	n/a
36	CEBPB	chr2:178128007-178128554	IMR90	lung:	n/a	chr2:178128228-178128239
37	TRIM28	chr2:178128114-178128419	K562	blood:	n/a	n/a
38	ATF2	chr2:178128002-178128614	GM12878	blood:	n/a	n/a
39	FOXA1	chr2:178128051-178128476	T-47D	breast:	n/a	n/a
40	TAF1	chr2:178128085-178130238	K562	blood:	n/a	n/a
41	BCLAF1	chr2:178127886-178128596	K562	blood:	n/a	chr2:178128566-178128579
42	ZKSCAN1	chr2:178128125-178128613	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr2:178128083-178128555	SK-N-SH_RA	brain:	n/a	chr2:178128379-178128393 chr2:178128378-178128397 chr2:178128383-178128393 chr2:178128381-178128394 chr2:178128383-178128395
44	POLR2A	chr2:178127996-178130330	Hela-S3	cervix:	n/a	n/a
45	SP4	chr2:178128103-178128504	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZBTB33	chr2:178128014-178128467	A549	lung:	n/a	chr2:178128278-178128285
47	POLR2A	chr2:178127887-178130308	GM12892	blood:	n/a	n/a
48	CREB1	chr2:178128015-178130182	K562	blood:	n/a	n/a
49	POLR2A	chr2:178127882-178130463	U87	brain:	n/a	n/a
50	HNF4A	chr2:178128069-178128541	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178027294..178032235-chr2:178128040..178131162,6	MCF-7	breast:
2	chr2:178127221..178129853-chr2:179341742..179345099,3	K562	blood:
3	chr2:178125970..178131401-chr2:178255081..178263132,15	K562	blood:
4	chr2:178025635..178032808-chr2:178126889..178131438,9	K562	blood:
5	chr2:178025635..178032947-chr2:178118593..178131370,24	K562	blood:
6	chr11:62439409..62439960-chr2:178127818..178128661,2	Hela-S3	cervix:
7	chr2:178128121..178130128-chr2:178186184..178188372,2	MCF-7	breast:
8	chr2:178090995..178099266-chr2:178122532..178131742,19	MCF-7	breast:
9	chr2:178028794..178029510-chr2:178127384..178128424,3	MCF-7	breast:
10	chr2:178127698..178128692-chr6:27860535..27861147,2	Hela-S3	cervix:
11	chr2:178083222..178085082-chr2:178127670..178130323,2	MCF-7	breast:
12	chr2:178128089..178131376-chr2:178255205..178259020,7	K562	blood:
13	chr2:178071941..178083670-chr2:178123489..178131742,39	MCF-7	breast:
14	chr2:178059437..178061662-chr2:178125593..178129550,4	K562	blood:
15	chr2:176031084..176033684-chr2:178126996..178129674,2	MCF-7	breast:
16	chr2:178028965..178029849-chr2:178127850..178128850,9	MCF-7	breast:
17	chr2:178074677..178081196-chr2:178126992..178134025,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222043	TF binding region
ENSG00000079150	Chromatin interaction
ENSG00000229750	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000225808	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000215973	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000115966	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000201102	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000170144	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3409728	chr2:178128131-178130679	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178122600-178128200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:178124800-178130200	Active TSS	Ovary	ovary
3	chr2:178124800-178130600	Active TSS	NHLF	lung
4	chr2:178125000-178130200	Active TSS	Aorta	Aorta
5	chr2:178125200-178128200	Active TSS	Right Atrium	heart
6	chr2:178125200-178130400	Active TSS	Esophagus	oesophagus
7	chr2:178125400-178128200	Weak transcription	Spleen	Spleen
8	chr2:178125400-178130000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:178125400-178130400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:178125400-178130400	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:178125400-178130600	Active TSS	HSMMtube	muscle
12	chr2:178125600-178130400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr2:178125600-178130600	Active TSS	A549	lung
14	chr2:178125800-178128600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:178125800-178130000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:178125800-178130400	Active TSS	Fetal Kidney	kidney
17	chr2:178126000-178130000	Active TSS	HSMM	muscle
18	chr2:178126000-178130400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:178126000-178130400	Active TSS	Colonic Mucosa	Colon
20	chr2:178126000-178130600	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:178126400-178128200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:178126400-178128600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:178126400-178128600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:178126400-178129800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:178126400-178130400	Active TSS	Fetal Stomach	stomach
26	chr2:178126400-178130400	Active TSS	Lung	lung
27	chr2:178126400-178130400	Active TSS	Stomach Mucosa	stomach
28	chr2:178126400-178130600	Active TSS	Brain Substantia Nigra	brain
29	chr2:178126400-178130600	Active TSS	NHDF-Ad	bronchial
30	chr2:178126600-178128400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:178126600-178128400	Active TSS	Brain Germinal Matrix	brain
32	chr2:178126600-178129800	Active TSS	Primary T cells fromperipheralblood	blood
33	chr2:178126600-178129800	Active TSS	GM12878-XiMat	blood
34	chr2:178126600-178130000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:178126600-178130000	Active TSS	HMEC	breast
36	chr2:178126600-178130400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:178126600-178130400	Active TSS	Placenta	Placenta
38	chr2:178126600-178130400	Active TSS	Psoas Muscle	Psoas
39	chr2:178126600-178130400	Active TSS	Right Ventricle	heart
40	chr2:178126600-178130600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr2:178126600-178130600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:178126600-178130600	Active TSS	Colon Smooth Muscle	Colon
43	chr2:178126600-178130600	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr2:178126600-178130800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:178126600-178130800	Active TSS	Fetal Muscle Leg	muscle
46	chr2:178126800-178128400	Active TSS	Fetal Brain Female	brain
47	chr2:178126800-178129200	Bivalent/Poised TSS	HepG2	liver
48	chr2:178126800-178129800	Active TSS	NHEK	skin
49	chr2:178126800-178130000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:178126800-178130000	Active TSS	Fetal Thymus	thymus

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