Variant report

Variant	rs17551500
Chromosome Location	chr2:178128448-178128449
allele	G/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	GTF2B	chr2:178128261-178128555	K562	blood:	n/a	n/a
4	POLR2A	chr2:178128095-178130334	GM12878	blood:	n/a	n/a
5	CTCF	chr2:178128300-178128450	GM12874	blood:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
6	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
7	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
8	TEAD4	chr2:178127801-178129231	K562	blood:	n/a	n/a
9	USF2	chr2:178128266-178128676	HepG2	liver:	n/a	n/a
10	CTCF	chr2:178128320-178128470	Hela-S3	cervix:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
11	ETS1	chr2:178128041-178128560	GM12878	blood:	n/a	chr2:178128277-178128286
12	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
13	POLR2A	chr2:178128136-178130284	Gliobla	brain:	n/a	n/a
14	MYC	chr2:178128203-178128477	GM12878	blood:	n/a	chr2:178128361-178128370
15	BHLHE40	chr2:178128056-178130373	K562	blood:	n/a	chr2:178129533-178129549 chr2:178129620-178129636
16	ZBTB7A	chr2:178128189-178129111	ECC-1	luminal epithelium:	n/a	n/a
17	TBP	chr2:178128176-178130447	H1-hESC	embryonic stem cell:	n/a	n/a
18	PML	chr2:178128006-178128639	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:178128153-178128573	T-47D	breast:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
20	FOSL2	chr2:178128024-178128600	HepG2	liver:	n/a	n/a
21	ZEB1	chr2:178128103-178128598	GM12878	blood:	n/a	n/a
22	CEBPB	chr2:178127830-178128978	ECC-1	luminal epithelium:	n/a	chr2:178128228-178128239
23	POLR2A	chr2:178127987-178130384	NB4	blood:	n/a	n/a
24	POLR2A	chr2:178127927-178130404	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr2:178128032-178129943	GM12878	blood:	n/a	n/a
26	ELF1	chr2:178128064-178129070	K562	blood:	n/a	chr2:178128535-178128547
27	GATA3	chr2:178127986-178128576	MCF-7	breast:	n/a	n/a
28	WRNIP1	chr2:178127920-178128490	GM12878	blood:	n/a	n/a
29	MAX	chr2:178128109-178128873	H1-hESC	embryonic stem cell:	n/a	chr2:178128795-178128804 chr2:178128361-178128370
30	MYC	chr2:178128058-178129069	K562	blood:	n/a	chr2:178128795-178128804 chr2:178128986-178128995 chr2:178128361-178128370
31	CTCF	chr2:178128300-178128450	BJ	skin:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
32	EP300	chr2:178128142-178128532	SK-N-SH_RA	brain:	n/a	n/a
33	MAX	chr2:178127957-178129059	MCF-7	breast:	n/a	chr2:178128795-178128804 chr2:178128986-178128995 chr2:178128361-178128370
34	STAT3	chr2:178128005-178128495	MCF10A-Er-Src	breast:	n/a	chr2:178128022-178128033
35	ELF1	chr2:178128150-178130260	GM12878	blood:	n/a	chr2:178128535-178128547
36	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
37	ETS1	chr2:178128149-178130076	K562	blood:	n/a	chr2:178128827-178128838 chr2:178128772-178128785 chr2:178128748-178128761 chr2:178128277-178128286 chr2:178129840-178129853 chr2:178128848-178128859
38	CTCF	chr2:178128300-178128450	AG10803	skin:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
39	MAX	chr2:178128046-178128561	Hela-S3	cervix:	n/a	chr2:178128361-178128370
40	TAF1	chr2:178127973-178130329	ECC-1	luminal epithelium:	n/a	n/a
41	YY1	chr2:178128060-178128901	SK-N-SH	brain:	n/a	chr2:178128858-178128872 chr2:178128839-178128850
42	MYBL2	chr2:178127716-178128865	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:178127938-178128464	K562	blood:	n/a	chr2:178128228-178128239
44	CTCF	chr2:178128300-178128450	HFF-Myc	foreskin:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
45	ATF2	chr2:178127815-178128605	GM12878	blood:	n/a	n/a
46	RELA	chr2:178128057-178128579	GM19099	blood:	n/a	n/a
47	CTCF	chr2:178128300-178128450	GM12864	blood:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
48	CTCF	chr2:178128300-178128450	HBMEC	blood vessel:	n/a	chr2:178128377-178128390 chr2:178128380-178128389 chr2:178128379-178128400 chr2:178128378-178128394 chr2:178128380-178128393 chr2:178128377-178128395 chr2:178128382-178128392
49	POLR2A	chr2:178128124-178130270	A549	lung:	n/a	n/a
50	MTA3	chr2:178127833-178130490	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:178128430-178128480	NHBE	bronchial:	n/a
2	chr2:178128430-178128480	AG09309	skin:	n/a
3	chr2:178128430-178128480	Jurkat	blood:	n/a
4	chr2:178128430-178128480	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:178128430-178128480	AG09319	gingival:	n/a
6	chr2:178128430-178128480	AG10803	skin:	n/a
7	chr2:178128430-178128480	GM12891	blood:	n/a
8	chr2:178128430-178128480	NH-A	brain:	n/a
9	chr2:178128430-178128480	HRPEpiC	eye:	n/a
10	chr2:178128430-178128480	SK-N-MC	brain:	n/a
11	chr2:178128430-178128480	HepG2	liver:	n/a
12	chr2:178128430-178128480	GM06990	blood:	n/a
13	chr2:178128430-178128480	ECC-1	luminal epithelium:	n/a
14	chr2:178128430-178128480	GM19239	blood:	n/a
15	chr2:178128430-178128480	PFSK-1	brain:	n/a
16	chr2:178128430-178128480	MCF-7	breast:	n/a
17	chr2:178128430-178128480	AoSMC	blood vessel:	n/a
18	chr2:178128430-178128480	T-47D	breast:	n/a
19	chr2:178128430-178128480	NT2-D1	testis:	n/a
20	chr2:178128430-178128480	SKMC	muscle:	n/a
21	chr2:178128430-178128480	Hela-S3	cervix:	n/a
22	chr2:178128430-178128480	HEK293	kidney:	embryo
23	chr2:178128430-178128480	A549	lung:	n/a
24	chr2:178128430-178128480	SK-N-SH_RA	brain:	n/a
25	chr2:178128430-178128480	HCF	heart:	n/a
26	chr2:178128430-178128480	AG04449	skin:	fetal
27	chr2:178128430-178128480	Hepatocyte	liver:	n/a
28	chr2:178128430-178128480	Caco-2	colon:	n/a
29	chr2:178128430-178128480	HUVEC	blood vessel:	n/a
30	chr2:178128430-178128480	HIPEpiC	eye:	n/a
31	chr2:178128430-178128480	HCPEpiC	choroid plexus:	n/a
32	chr2:178128430-178128480	SK-N-SH	brain:	n/a
33	chr2:178128430-178128480	SAEC	small airway:	n/a
34	chr2:178128430-178128480	NHDF-neo	bronchial:	n/a
35	chr2:178128430-178128480	HCT-116	colon:	n/a
36	chr2:178128430-178128480	HCM	heart:	n/a
37	chr2:178128430-178128480	IMR90	lung:	fetal
38	chr2:178128430-178128480	K562	blood:	n/a
39	chr2:178128430-178128480	AG04450	lung:	fetal
40	chr2:178128430-178128480	H1-hESC	embryonic stem cell:	embryo
41	chr2:178128430-178128480	ProgFib	skin:	n/a
42	chr2:178128430-178128480	HNPCEpiC	eye:	n/a
43	chr2:178128430-178128480	ovcar-3	ovarian:	n/a
44	chr2:178128430-178128480	PANC-1	pancreas:	n/a
45	chr2:178128430-178128480	HAEpiC	amniotic membrane:	n/a
46	chr2:178128430-178128480	HMEC	breast:	n/a
47	chr2:178128430-178128480	MCF10A-Er-Src	breast:	n/a
48	chr2:178128430-178128480	PrEC	prostate:	n/a
49	chr2:178128430-178128480	LNCaP	prostate:	n/a
50	chr2:178128430-178128480	HL-60	blood:	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	chr2:178127698..178128692-chr6:27860535..27861147,2	Hela-S3	cervix:
10	chr2:178083222..178085082-chr2:178127670..178130323,2	MCF-7	breast:
11	chr2:178128296..178129936-chr2:179344780..179347369,2	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
NFE2L2	TF binding region
NFE2L2	CpG island
ENSG00000222043	CpG island
ENSG00000233224	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000201102	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000115966	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000215973	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000079150	Chromatin interaction
ENSG00000229750	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000225808	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11885056	1.00[ASN][1000 genomes]
rs13419450	1.00[ASN][1000 genomes]

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	chr2:178124800-178130200	Active TSS	Ovary	ovary
2	chr2:178124800-178130600	Active TSS	NHLF	lung
3	chr2:178125000-178130200	Active TSS	Aorta	Aorta
4	chr2:178125200-178130400	Active TSS	Esophagus	oesophagus
5	chr2:178125400-178130000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:178125400-178130400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:178125400-178130400	Active TSS	Rectal Smooth Muscle	rectum
8	chr2:178125400-178130600	Active TSS	HSMMtube	muscle
9	chr2:178125600-178130400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:178125600-178130600	Active TSS	A549	lung
11	chr2:178125800-178128600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:178125800-178130000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:178125800-178130400	Active TSS	Fetal Kidney	kidney
14	chr2:178126000-178130000	Active TSS	HSMM	muscle
15	chr2:178126000-178130400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:178126000-178130400	Active TSS	Colonic Mucosa	Colon
17	chr2:178126000-178130600	Active TSS	Stomach Smooth Muscle	stomach
18	chr2:178126400-178128600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:178126400-178128600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:178126400-178129800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:178126400-178130400	Active TSS	Fetal Stomach	stomach
22	chr2:178126400-178130400	Active TSS	Lung	lung
23	chr2:178126400-178130400	Active TSS	Stomach Mucosa	stomach
24	chr2:178126400-178130600	Active TSS	Brain Substantia Nigra	brain
25	chr2:178126400-178130600	Active TSS	NHDF-Ad	bronchial
26	chr2:178126600-178129800	Active TSS	Primary T cells fromperipheralblood	blood
27	chr2:178126600-178129800	Active TSS	GM12878-XiMat	blood
28	chr2:178126600-178130000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:178126600-178130000	Active TSS	HMEC	breast
30	chr2:178126600-178130400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:178126600-178130400	Active TSS	Placenta	Placenta
32	chr2:178126600-178130400	Active TSS	Psoas Muscle	Psoas
33	chr2:178126600-178130400	Active TSS	Right Ventricle	heart
34	chr2:178126600-178130600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:178126600-178130600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:178126600-178130600	Active TSS	Colon Smooth Muscle	Colon
37	chr2:178126600-178130600	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:178126600-178130800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:178126600-178130800	Active TSS	Fetal Muscle Leg	muscle
40	chr2:178126800-178129200	Bivalent/Poised TSS	HepG2	liver
41	chr2:178126800-178129800	Active TSS	NHEK	skin
42	chr2:178126800-178130000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:178126800-178130000	Active TSS	Fetal Thymus	thymus
44	chr2:178126800-178130200	Active TSS	Placenta Amnion	Placenta Amnion
45	chr2:178126800-178130400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:178126800-178130400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr2:178126800-178130400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:178126800-178130400	Active TSS	Fetal Muscle Trunk	muscle
49	chr2:178126800-178130600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:178126800-178130600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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