Variant report

Variant	rs572836817
Chromosome Location	chr2:178129064-178129065
allele	A/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	POLR2A	chr2:178128095-178130334	GM12878	blood:	n/a	n/a
3	E2F6	chr2:178128592-178129205	K562	blood:	n/a	chr2:178128863-178128872 chr2:178128901-178128910
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	SRF	chr2:178129008-178129647	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:178128136-178130284	Gliobla	brain:	n/a	n/a
9	BHLHE40	chr2:178128056-178130373	K562	blood:	n/a	chr2:178129533-178129549 chr2:178129620-178129636
10	ZBTB7A	chr2:178128189-178129111	ECC-1	luminal epithelium:	n/a	n/a
11	TBP	chr2:178128176-178130447	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:178127987-178130384	NB4	blood:	n/a	n/a
13	POLR2A	chr2:178127927-178130404	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr2:178128960-178129110	AG04449	skin:	n/a	n/a
15	TAF1	chr2:178128032-178129943	GM12878	blood:	n/a	n/a
16	ELF1	chr2:178128064-178129070	K562	blood:	n/a	chr2:178128535-178128547
17	MYC	chr2:178128058-178129069	K562	blood:	n/a	chr2:178128795-178128804 chr2:178128986-178128995 chr2:178128361-178128370
18	ELF1	chr2:178128150-178130260	GM12878	blood:	n/a	chr2:178128535-178128547
19	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
20	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
21	HDAC2	chr2:178129024-178130419	HepG2	liver:	n/a	n/a
22	TAF1	chr2:178127973-178130329	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr2:178128124-178130270	A549	lung:	n/a	n/a
24	MTA3	chr2:178127833-178130490	GM12878	blood:	n/a	n/a
25	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
26	JUND	chr2:178128072-178131546	K562	blood:	n/a	n/a
27	CEBPD	chr2:178129006-178130273	HepG2	liver:	n/a	n/a
28	TAF1	chr2:178128085-178130238	K562	blood:	n/a	n/a
29	POLR2A	chr2:178127996-178130330	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:178127887-178130308	GM12892	blood:	n/a	n/a
31	CREB1	chr2:178128015-178130182	K562	blood:	n/a	n/a
32	POLR2A	chr2:178127882-178130463	U87	brain:	n/a	n/a
33	POLR2A	chr2:178128043-178130256	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:178128037-178130175	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr2:178128086-178130290	HEK293	kidney:	n/a	n/a
36	ELF1	chr2:178128043-178129065	MCF-7	breast:	n/a	chr2:178128535-178128547
37	UBTF	chr2:178127808-178130425	K562	blood:	n/a	n/a
38	RCOR1	chr2:178128042-178130222	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:178127796-178130725	GM12878	blood:	n/a	n/a
40	EGR1	chr2:178127942-178130495	HCT-116	colon:	n/a	chr2:178129923-178129933 chr2:178128900-178128910 chr2:178129922-178129932 chr2:178128882-178128904 chr2:178129414-178129428 chr2:178129699-178129714 chr2:178129604-178129617 chr2:178129701-178129711 chr2:178128884-178128898 chr2:178129642-178129652 chr2:178128887-178128900 chr2:178129700-178129713 chr2:178129701-178129712 chr2:178128673-178128683 chr2:178129700-178129713 chr2:178129604-178129617
41	ZNF263	chr2:178128247-178130210	K562	blood:	n/a	chr2:178128590-178128599
42	POLR2A	chr2:178128912-178129432	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF12	chr2:178127686-178132004	A549	lung:	n/a	chr2:178127747-178127754 chr2:178129626-178129633
44	TAF1	chr2:178128065-178130258	HepG2	liver:	n/a	n/a
45	MAX	chr2:178128091-178130343	GM12878	blood:	n/a	chr2:178129585-178129594 chr2:178128795-178128804 chr2:178128986-178128995 chr2:178130083-178130094 chr2:178128361-178128370 chr2:178129923-178129933
46	EGR1	chr2:178128096-178130344	K562	blood:	n/a	chr2:178129923-178129933 chr2:178128900-178128910 chr2:178129922-178129932 chr2:178128882-178128904 chr2:178129414-178129428 chr2:178129699-178129714 chr2:178129604-178129617 chr2:178129701-178129711 chr2:178128884-178128898 chr2:178129642-178129652 chr2:178128887-178128900 chr2:178129700-178129713 chr2:178129701-178129712 chr2:178128673-178128683 chr2:178129700-178129713 chr2:178129604-178129617
47	CHD1	chr2:178125890-178131288	IMR90	lung:	n/a	chr2:178129487-178129497 chr2:178128831-178128841
48	PBX3	chr2:178128021-178129224	SK-N-SH	brain:	n/a	n/a
49	E2F4	chr2:178128125-178130258	K562	blood:	n/a	chr2:178128461-178128468 chr2:178128460-178128472 chr2:178128461-178128468 chr2:178128863-178128872 chr2:178129534-178129543 chr2:178129609-178129621 chr2:178128461-178128468 chr2:178128901-178128910 chr2:178129481-178129490
50	MAX	chr2:178127961-178130487	HCT-116	colon:	n/a	chr2:178129585-178129594 chr2:178128795-178128804 chr2:178128986-178128995 chr2:178130083-178130094 chr2:178128361-178128370 chr2:178129923-178129933

No.	Distal block	Cell Line	Cell type
1	chr1:28832090..28832625-chr2:178128466..178129437,2	Hela-S3	cervix:
2	chr11:62608626..62609506-chr2:178128638..178129362,2	NB4	blood:
3	chr2:178027294..178032235-chr2:178128040..178131162,6	MCF-7	breast:
4	chr2:178127221..178129853-chr2:179341742..179345099,3	K562	blood:
5	chr2:178125970..178131401-chr2:178255081..178263132,15	K562	blood:
6	chr2:178128784..178131655-chr2:178537635..178541213,3	K562	blood:
7	chr2:178025635..178032808-chr2:178126889..178131438,9	K562	blood:
8	chr2:178025635..178032947-chr2:178118593..178131370,24	K562	blood:
9	chr2:178128121..178130128-chr2:178186184..178188372,2	MCF-7	breast:
10	chr2:178090995..178099266-chr2:178122532..178131742,19	MCF-7	breast:
11	chr2:178083222..178085082-chr2:178127670..178130323,2	MCF-7	breast:
12	chr2:178128296..178129936-chr2:179344780..179347369,2	MCF-7	breast:
13	chr2:178128089..178131376-chr2:178255205..178259020,7	K562	blood:
14	chr2:178071941..178083670-chr2:178123489..178131742,39	MCF-7	breast:
15	chr2:178059437..178061662-chr2:178125593..178129550,4	K562	blood:
16	chr12:69139736..69140676-chr2:178128562..178129536,2	Hela-S3	cervix:
17	chr2:176031084..176033684-chr2:178126996..178129674,2	MCF-7	breast:
18	chr2:178074677..178081196-chr2:178126992..178134025,23	MCF-7	breast:

Variant related genes	Relation type
NFE2L2	TF binding region
ENSG00000222043	TF binding region
ENSG00000229750	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000079150	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000215973	Chromatin interaction
ENSG00000175782	Chromatin interaction
ENSG00000225808	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000116095	Chromatin interaction
ENSG00000201102	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000115966	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000128655	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000133316	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	chr2:178124800-178130200	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	chr2:178125800-178130000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:178125800-178130400	Active TSS	Fetal Kidney	kidney
13	chr2:178126000-178130000	Active TSS	HSMM	muscle
14	chr2:178126000-178130400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:178126000-178130400	Active TSS	Colonic Mucosa	Colon
16	chr2:178126000-178130600	Active TSS	Stomach Smooth Muscle	stomach
17	chr2:178126400-178129800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:178126400-178130400	Active TSS	Fetal Stomach	stomach
19	chr2:178126400-178130400	Active TSS	Lung	lung
20	chr2:178126400-178130400	Active TSS	Stomach Mucosa	stomach
21	chr2:178126400-178130600	Active TSS	Brain Substantia Nigra	brain
22	chr2:178126400-178130600	Active TSS	NHDF-Ad	bronchial
23	chr2:178126600-178129800	Active TSS	Primary T cells fromperipheralblood	blood
24	chr2:178126600-178129800	Active TSS	GM12878-XiMat	blood
25	chr2:178126600-178130000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:178126600-178130000	Active TSS	HMEC	breast
27	chr2:178126600-178130400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:178126600-178130400	Active TSS	Placenta	Placenta
29	chr2:178126600-178130400	Active TSS	Psoas Muscle	Psoas
30	chr2:178126600-178130400	Active TSS	Right Ventricle	heart
31	chr2:178126600-178130600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:178126600-178130600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:178126600-178130600	Active TSS	Colon Smooth Muscle	Colon
34	chr2:178126600-178130600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr2:178126600-178130800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:178126600-178130800	Active TSS	Fetal Muscle Leg	muscle
37	chr2:178126800-178129200	Bivalent/Poised TSS	HepG2	liver
38	chr2:178126800-178129800	Active TSS	NHEK	skin
39	chr2:178126800-178130000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:178126800-178130000	Active TSS	Fetal Thymus	thymus
41	chr2:178126800-178130200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr2:178126800-178130400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:178126800-178130400	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr2:178126800-178130400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:178126800-178130400	Active TSS	Fetal Muscle Trunk	muscle
46	chr2:178126800-178130600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:178126800-178130600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:178126800-178130600	Active TSS	Brain Cingulate Gyrus	brain
49	chr2:178126800-178130600	Active TSS	Brain Hippocampus Middle	brain
50	chr2:178126800-178130600	Active TSS	Hela-S3	cervix

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