Variant report

Variant	rs545920348
Chromosome Location	chr2:128144825-128144826
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	ZKSCAN1	chr2:128144623-128144881	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:128144758-128146110	MCF-7	breast:	n/a	n/a
3	MAX	chr2:128144457-128146041	HepG2	liver:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
4	KAP1	chr2:128144396-128144929	HEK293	kidney:	n/a	n/a
5	RUNX3	chr2:128144347-128146478	GM12878	blood:	n/a	n/a
6	BACH1	chr2:128144732-128145063	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:128144343-128146428	GM12891	blood:	n/a	n/a
8	EP300	chr2:128144468-128146129	HepG2	liver:	n/a	chr2:128145703-128145719 chr2:128145712-128145728 chr2:128145498-128145507 chr2:128145501-128145517 chr2:128145468-128145484
9	POLR2A	chr2:128144624-128146116	MCF-7	breast:	n/a	n/a
10	MAX	chr2:128144669-128146230	Hela-S3	cervix:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
11	TBL1XR1	chr2:128144687-128145085	K562	blood:	n/a	n/a
12	SIN3A	chr2:128144430-128146062	H1-hESC	embryonic stem cell:	n/a	chr2:128145470-128145481 chr2:128144859-128144870 chr2:128145893-128145902
13	PAX5	chr2:128144774-128145141	GM12878	blood:	n/a	n/a
14	STAT1	chr2:128144695-128145063	GM12878	blood:	n/a	n/a
15	MAFK	chr2:128144643-128144871	IMR90	lung:	n/a	n/a
16	RAD21	chr2:128144685-128145092	SK-N-SH_RA	brain:	n/a	chr2:128144843-128144853
17	PAX5	chr2:128144747-128145088	GM12878	blood:	n/a	n/a
18	MAX	chr2:128144496-128146255	GM12878	blood:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
19	CHD1	chr2:128143649-128147067	IMR90	lung:	n/a	chr2:128145167-128145177
20	JUND	chr2:128144774-128145137	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:128144643-128146053	Gliobla	brain:	n/a	n/a
22	JUND	chr2:128144745-128145078	HepG2	liver:	n/a	n/a
23	NRF1	chr2:128144336-128146260	SK-N-SH	brain:	n/a	chr2:128145663-128145674 chr2:128145663-128145677 chr2:128145665-128145674 chr2:128145628-128145639 chr2:128145660-128145674 chr2:128145663-128145674
24	TAF1	chr2:128144633-128145183	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr2:128144307-128146229	SK-N-MC	brain:	n/a	n/a
26	EGR1	chr2:128144704-128146189	HCT-116	colon:	n/a	chr2:128145683-128145698 chr2:128145683-128145697 chr2:128145685-128145695 chr2:128145664-128145673 chr2:128145685-128145695 chr2:128145685-128145696 chr2:128145699-128145713 chr2:128145681-128145695 chr2:128145684-128145697 chr2:128145069-128145083
27	HMGN3	chr2:128144751-128146078	K562	blood:	n/a	n/a
28	FOXM1	chr2:128144595-128145102	GM12878	blood:	n/a	n/a
29	ELF1	chr2:128144693-128145994	GM12878	blood:	n/a	chr2:128145438-128145447 chr2:128145117-128145129
30	FOXM1	chr2:128144675-128146196	GM12878	blood:	n/a	n/a
31	EP300	chr2:128144748-128146508	GM12878	blood:	n/a	chr2:128145703-128145719 chr2:128145712-128145728 chr2:128145498-128145507 chr2:128145501-128145517 chr2:128145468-128145484
32	CEBPD	chr2:128144736-128145994	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr2:128144591-128145104	A549	lung:	n/a	n/a
34	TFAP2A	chr2:128144693-128146275	Hela-S3	cervix:	n/a	chr2:128145602-128145617 chr2:128145773-128145788
35	POLR2A	chr2:128144696-128146001	HepG2	liver:	n/a	n/a
36	RAD21	chr2:128144600-128146451	IMR90	lung:	n/a	chr2:128144843-128144853
37	POLR2A	chr2:128144667-128146031	GM12878	blood:	n/a	n/a
38	MYBL2	chr2:128144475-128146159	HepG2	liver:	n/a	n/a
39	BRCA1	chr2:128144670-128145029	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr2:128144503-128146173	ECC-1	luminal epithelium:	n/a	chr2:128145890-128145905 chr2:128145892-128145902
41	CREB1	chr2:128144709-128146022	A549	lung:	n/a	n/a
42	PML	chr2:128144447-128146442	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:128144701-128146085	GM12892	blood:	n/a	n/a
44	BCLAF1	chr2:128144567-128146390	GM12878	blood:	n/a	chr2:128145438-128145451 chr2:128145473-128145486 chr2:128145499-128145508 chr2:128145472-128145485
45	EGR1	chr2:128144650-128145282	K562	blood:	n/a	chr2:128145069-128145083
46	MXI1	chr2:128144504-128146058	HepG2	liver:	n/a	chr2:128145893-128145902
47	WRNIP1	chr2:128144530-128144913	GM12878	blood:	n/a	n/a
48	EP300	chr2:128144790-128145118	SK-N-SH_RA	brain:	n/a	n/a
49	TCF12	chr2:128144476-128146453	A549	lung:	n/a	n/a
50	POLR2A	chr2:128144402-128146409	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128144817-128144867	HCPEpiC	choroid plexus:	n/a
2	chr2:128144817-128144867	HPAEpiC	pulmonary alveolar:	n/a
3	chr2:128144817-128144867	T-47D	breast:	n/a
4	chr2:128144817-128144867	HMEC	breast:	n/a
5	chr2:128144817-128144867	GM12878	blood:	n/a
6	chr2:128144817-128144867	MCF10A-Er-Src	breast:	n/a
7	chr2:128144817-128144867	Caco-2	colon:	n/a
8	chr2:128144817-128144867	HRPEpiC	eye:	n/a
9	chr2:128144817-128144867	HCF	heart:	n/a
10	chr2:128144817-128144867	GM12891	blood:	n/a
11	chr2:128144817-128144867	LNCaP	prostate:	n/a
12	chr2:128144817-128144867	AG04449	skin:	fetal
13	chr2:128144817-128144867	HEEpiC	esophagus:	n/a
14	chr2:128144817-128144867	BE2_C	brain:	n/a
15	chr2:128144817-128144867	A549	lung:	n/a
16	chr2:128144817-128144867	HEK293	kidney:	embryo
17	chr2:128144817-128144867	H1-hESC	embryonic stem cell:	embryo
18	chr2:128144817-128144867	AG10803	skin:	n/a
19	chr2:128144817-128144867	Hepatocyte	liver:	n/a
20	chr2:128144817-128144867	PANC-1	pancreas:	n/a
21	chr2:128144817-128144867	MCF-7	breast:	n/a
22	chr2:128144817-128144867	ovcar-3	ovarian:	n/a
23	chr2:128144817-128144867	HL-60	blood:	n/a
24	chr2:128144817-128144867	AG09309	skin:	n/a
25	chr2:128144817-128144867	PrEC	prostate:	n/a
26	chr2:128144817-128144867	NHBE	bronchial:	n/a
27	chr2:128144817-128144867	BJ	skin:	n/a
28	chr2:128144817-128144867	NHDF-neo	bronchial:	n/a
29	chr2:128144817-128144867	HRE	kidney:	n/a
30	chr2:128144817-128144867	AG09319	gingival:	n/a
31	chr2:128144817-128144867	AoSMC	blood vessel:	n/a
32	chr2:128144817-128144867	HepG2	liver:	n/a
33	chr2:128144817-128144867	IMR90	lung:	fetal
34	chr2:128144817-128144867	HIPEpiC	eye:	n/a
35	chr2:128144817-128144867	GM06990	blood:	n/a
36	chr2:128144817-128144867	HNPCEpiC	eye:	n/a
37	chr2:128144817-128144867	PFSK-1	brain:	n/a
38	chr2:128144817-128144867	NH-A	brain:	n/a
39	chr2:128144817-128144867	NB4	blood:	n/a
40	chr2:128144817-128144867	AG04450	lung:	fetal
41	chr2:128144817-128144867	HUVEC	blood vessel:	n/a
42	chr2:128144817-128144867	SKMC	muscle:	n/a
43	chr2:128144817-128144867	Jurkat	blood:	n/a
44	chr2:128144817-128144867	HCM	heart:	n/a
45	chr2:128144817-128144867	SAEC	small airway:	n/a
46	chr2:128144817-128144867	GM12892	blood:	n/a
47	chr2:128144817-128144867	ProgFib	skin:	n/a
48	chr2:128144817-128144867	ECC-1	luminal epithelium:	n/a
49	chr2:128144817-128144867	CMK	blood:	n/a
50	chr2:128144817-128144867	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128143986..128147167-chr2:128178825..128181533,4	MCF-7	breast:
2	chr2:128100303..128102941-chr2:128143349..128145550,2	MCF-7	breast:
3	chr2:120435826..120437483-chr2:128143933..128146415,2	MCF-7	breast:
4	chr2:128142847..128144835-chr2:128235432..128237017,2	MCF-7	breast:
5	chr2:128100404..128103030-chr2:128144500..128146639,3	MCF-7	breast:
6	chr2:128143823..128146469-chr2:128456940..128459025,2	MCF-7	breast:
7	chr2:128144539..128145445-chr2:128165335..128166197,2	MCF-7	breast:
8	chr2:128143841..128146885-chr2:128179410..128184717,5	MCF-7	breast:
9	chr2:128123227..128125802-chr2:128143081..128145387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236682	TF binding region
ENSG00000236682	CpG island
ENSG00000173349	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000264075	Chromatin interaction
ENSG00000144120	Chromatin interaction
ENSG00000169967	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3346398	chr2:128143907-128146455	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3327412	chr2:128144082-128146880	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:128143200-128145000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr2:128143200-128146200	Active TSS	Psoas Muscle	Psoas
3	chr2:128143400-128145800	Active TSS	Muscle Satellite Cultured Cells	--
4	chr2:128143400-128145800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:128143600-128145800	Active TSS	Fetal Intestine Large	intestine
6	chr2:128143600-128145800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:128143600-128146000	Active TSS	HSMMtube	muscle
8	chr2:128143800-128145800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:128143800-128145800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:128143800-128145800	Active TSS	Duodenum Mucosa	Duodenum
11	chr2:128143800-128145800	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:128143800-128146000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:128143800-128146000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:128143800-128146000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:128143800-128146000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:128143800-128146000	Active TSS	A549	lung
17	chr2:128143800-128146000	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:128143800-128146000	Active TSS	NHLF	lung
19	chr2:128143800-128146200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:128143800-128146200	Active TSS	Right Atrium	heart
21	chr2:128144000-128145800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:128144000-128145800	Active TSS	Thymus	Thymus
23	chr2:128144000-128145800	Active TSS	Hela-S3	cervix
24	chr2:128144000-128145800	Active TSS	HSMM	muscle
25	chr2:128144000-128146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:128144000-128146000	Active TSS	Brain Angular Gyrus	brain
27	chr2:128144000-128146000	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:128144000-128146000	Active TSS	Brain Hippocampus Middle	brain
29	chr2:128144000-128146000	Active TSS	Ovary	ovary
30	chr2:128144000-128146000	Active TSS	Stomach Smooth Muscle	stomach
31	chr2:128144000-128146200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:128144000-128146200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:128144000-128146200	Active TSS	Right Ventricle	heart
34	chr2:128144200-128145000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:128144200-128145800	Active TSS	HMEC	breast
36	chr2:128144200-128146000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:128144200-128146000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:128144200-128146000	Active TSS	K562	blood
39	chr2:128144200-128146200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr2:128144200-128146200	Active TSS	Fetal Brain Female	brain
41	chr2:128144200-128146200	Active TSS	GM12878-XiMat	blood
42	chr2:128144200-128146200	Active TSS	NHDF-Ad	bronchial
43	chr2:128144200-128146600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:128144200-128146600	Active TSS	Colonic Mucosa	Colon
45	chr2:128144400-128145000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:128144400-128145000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:128144400-128145800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:128144400-128145800	Active TSS	Stomach Mucosa	stomach
49	chr2:128144400-128146000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr2:128144400-128146000	Active TSS	H9 Cell Line	embryonic stem cell

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