Variant report

Variant	rs546823414
Chromosome Location	chr2:181845017-181845018
allele	A/G
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	ARID3A	chr2:181844944-181845261	HepG2	liver:	n/a	n/a
2	HEY1	chr2:181844157-181845616	HepG2	liver:	n/a	chr2:181845368-181845383 chr2:181845366-181845381 chr2:181845501-181845516
3	IRF1	chr2:181844936-181845408	K562	blood:	n/a	chr2:181845010-181845024
4	ELF1	chr2:181844836-181845181	HepG2	liver:	n/a	chr2:181845009-181845021 chr2:181845008-181845017
5	POLR2A	chr2:181844747-181845661	H1-neurons	neurons:	n/a	n/a
6	ZBTB7A	chr2:181844768-181845147	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:181844773-181845581	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:181844929-181845259	GM12891	blood:	n/a	n/a
9	STAT1	chr2:181844887-181845079	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:181844707-181846196	GM18951	blood:	n/a	n/a
11	POLR2A	chr2:181843861-181845587	PBDE	blood:	n/a	n/a
12	MAX	chr2:181844636-181845584	NB4	blood:	n/a	n/a
13	MYC	chr2:181844770-181845561	MCF-7	breast:	n/a	n/a
14	EGR1	chr2:181844752-181845720	K562	blood:	n/a	chr2:181845412-181845426 chr2:181845064-181845086 chr2:181845600-181845610 chr2:181845459-181845468 chr2:181845372-181845386 chr2:181845458-181845471 chr2:181845458-181845471 chr2:181844871-181844881 chr2:181845651-181845664 chr2:181845453-181845475 chr2:181845069-181845082
15	E2F4	chr2:181844890-181845586	MCF10A-Er-Src	breast:	n/a	chr2:181845218-181845230 chr2:181845068-181845077 chr2:181845371-181845381 chr2:181845219-181845230 chr2:181845374-181845384
16	UBTF	chr2:181844601-181846848	K562	blood:	n/a	n/a
17	E2F1	chr2:181844871-181845528	Hela-S3	cervix:	n/a	chr2:181844871-181844880 chr2:181845218-181845230 chr2:181845068-181845077 chr2:181845371-181845381 chr2:181845374-181845384 chr2:181845105-181845116
18	POLR2A	chr2:181844827-181845574	GM12891	blood:	n/a	n/a
19	EGR1	chr2:181844850-181845183	GM12878	blood:	n/a	chr2:181845064-181845086 chr2:181844871-181844881 chr2:181845069-181845082
20	GABPA	chr2:181844834-181845080	H1-hESC	embryonic stem cell:	n/a	chr2:181844946-181844955 chr2:181845068-181845077
21	REST	chr2:181844673-181845172	HepG2	liver:	n/a	chr2:181844902-181844922
22	JUND	chr2:181844765-181845687	A549	lung:	n/a	n/a
23	EP300	chr2:181844851-181845561	HepG2	liver:	n/a	chr2:181844939-181844948 chr2:181845372-181845381
24	POLR2A	chr2:181844859-181845568	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:181844758-181845516	A549	lung:	n/a	n/a
26	POLR2A	chr2:181844264-181846086	K562	blood:	n/a	n/a
27	PML	chr2:181844918-181845613	K562	blood:	n/a	chr2:181845078-181845086
28	POLR2A	chr2:181844647-181846214	K562	blood:	n/a	n/a
29	EGR1	chr2:181844791-181845742	HCT-116	colon:	n/a	chr2:181845412-181845426 chr2:181845064-181845086 chr2:181845600-181845610 chr2:181845459-181845468 chr2:181845372-181845386 chr2:181845458-181845471 chr2:181845458-181845471 chr2:181844871-181844881 chr2:181845651-181845664 chr2:181845453-181845475 chr2:181845069-181845082
30	MAZ	chr2:181844657-181846479	GM12878	blood:	n/a	chr2:181845600-181845610
31	RAD21	chr2:181844743-181845720	SK-N-SH_RA	brain:	n/a	chr2:181845110-181845123
32	POLR2A	chr2:181844170-181846127	MCF10A-Er-Src	breast:	n/a	n/a
33	ELF1	chr2:181844735-181845303	MCF-7	breast:	n/a	chr2:181845009-181845021 chr2:181845008-181845017
34	E2F6	chr2:181844606-181845301	A549	lung:	n/a	chr2:181844871-181844880 chr2:181845218-181845230 chr2:181845068-181845077
35	POLR2A	chr2:181844225-181846430	K562	blood:	n/a	n/a
36	POLR2A	chr2:181844265-181845573	K562	blood:	n/a	n/a
37	EGR1	chr2:181844877-181845644	H1-hESC	embryonic stem cell:	n/a	chr2:181845412-181845426 chr2:181845064-181845086 chr2:181845600-181845610 chr2:181845459-181845468 chr2:181845372-181845386 chr2:181845458-181845471 chr2:181845458-181845471 chr2:181845453-181845475 chr2:181845069-181845082
38	EBF1	chr2:181844711-181845149	GM12878	blood:	n/a	chr2:181844970-181844981
39	POLR2A	chr2:181844737-181845559	A549	lung:	n/a	n/a
40	POLR2A	chr2:181844770-181845570	A549	lung:	n/a	n/a
41	CHD2	chr2:181844709-181846453	Hela-S3	cervix:	n/a	n/a
42	HDAC2	chr2:181844731-181845605	HepG2	liver:	n/a	chr2:181845159-181845168 chr2:181845576-181845590
43	NFIC	chr2:181844582-181845582	HepG2	liver:	n/a	n/a
44	E2F6	chr2:181844746-181845570	K562	blood:	n/a	chr2:181844871-181844880 chr2:181845218-181845230 chr2:181845068-181845077 chr2:181845371-181845381 chr2:181845374-181845384
45	MYC	chr2:181844370-181846598	K562	blood:	n/a	chr2:181845600-181845610
46	POLR2A	chr2:181844329-181846225	K562	blood:	n/a	n/a
47	POLR2A	chr2:181845006-181845245	GM12891	blood:	n/a	n/a
48	POLR2A	chr2:181844626-181845538	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr2:181843951-181845618	K562	blood:	n/a	n/a
50	TAF1	chr2:181844676-181845675	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:181845005-181845055	HRE	kidney:	n/a
2	chr2:181845005-181845055	SK-N-SH_RA	brain:	n/a
3	chr2:181845005-181845055	SK-N-MC	brain:	n/a
4	chr2:181845005-181845055	HUVEC	blood vessel:	n/a
5	chr2:181845005-181845055	HL-60	blood:	n/a
6	chr2:181845005-181845055	HEK293	kidney:	embryo
7	chr2:181845005-181845055	CMK	blood:	n/a
8	chr2:181845005-181845055	PANC-1	pancreas:	n/a
9	chr2:181845005-181845055	U87	brain:	n/a
10	chr2:181845005-181845055	BE2_C	brain:	n/a
11	chr2:181845005-181845055	HAEpiC	amniotic membrane:	n/a
12	chr2:181845005-181845055	GM06990	blood:	n/a
13	chr2:181845005-181845055	Hepatocyte	liver:	n/a
14	chr2:181845005-181845055	Hela-S3	cervix:	n/a
15	chr2:181845005-181845055	K562	blood:	n/a
16	chr2:181845005-181845055	HNPCEpiC	eye:	n/a
17	chr2:181845005-181845055	SK-N-SH	brain:	n/a
18	chr2:181845005-181845055	IMR90	lung:	fetal
19	chr2:181845005-181845055	AG09309	skin:	n/a
20	chr2:181845005-181845055	HCF	heart:	n/a
21	chr2:181845005-181845055	GM12891	blood:	n/a
22	chr2:181845005-181845055	MCF-7	breast:	n/a
23	chr2:181845005-181845055	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:181845005-181845055	HMEC	breast:	n/a
25	chr2:181845005-181845055	HEEpiC	esophagus:	n/a
26	chr2:181845005-181845055	BJ	skin:	n/a
27	chr2:181845005-181845055	GM12878	blood:	n/a
28	chr2:181845005-181845055	AG04450	lung:	fetal
29	chr2:181845005-181845055	HCPEpiC	choroid plexus:	n/a
30	chr2:181845005-181845055	H1-hESC	embryonic stem cell:	embryo
31	chr2:181845005-181845055	NT2-D1	testis:	n/a
32	chr2:181845005-181845055	T-47D	breast:	n/a
33	chr2:181845005-181845055	ECC-1	luminal epithelium:	n/a
34	chr2:181845005-181845055	PFSK-1	brain:	n/a
35	chr2:181845005-181845055	HRCEpiC	kidney:	n/a
36	chr2:181845005-181845055	AG09319	gingival:	n/a
37	chr2:181845005-181845055	NHBE	bronchial:	n/a
38	chr2:181845005-181845055	HRPEpiC	eye:	n/a
39	chr2:181845005-181845055	HCT-116	colon:	n/a
40	chr2:181845005-181845055	LNCaP	prostate:	n/a
41	chr2:181845005-181845055	AG10803	skin:	n/a
42	chr2:181845005-181845055	GM19239	blood:	n/a
43	chr2:181845005-181845055	ovcar-3	ovarian:	n/a
44	chr2:181845005-181845055	MCF10A-Er-Src	breast:	n/a
45	chr2:181845005-181845055	GM12892	blood:	n/a
46	chr2:181845005-181845055	Caco-2	colon:	n/a
47	chr2:181845005-181845055	SKMC	muscle:	n/a
48	chr2:181845005-181845055	A549	lung:	n/a
49	chr2:181845005-181845055	HCM	heart:	n/a
50	chr2:181845005-181845055	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181829069..181832020-chr2:181844085..181846532,2	MCF-7	breast:

Variant related genes	Relation type
UBE2E3	TF binding region
ENSG00000236153	TF binding region
UBE2E3	CpG island
ENSG00000236153	CpG island
ENSG00000170035	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	nsv875476	chr2:181767757-181854997	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	esv3439536	chr2:181844232-181847280	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181843800-181848600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:181843800-181849200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:181844000-181845200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:181844000-181845200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:181844000-181847400	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:181844200-181847000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:181844400-181845200	Active TSS	Placenta Amnion	Placenta Amnion
8	chr2:181844400-181845200	Flanking Active TSS	HMEC	breast
9	chr2:181844400-181845400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:181844400-181846400	Active TSS	Liver	Liver
11	chr2:181844400-181846400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:181844400-181846400	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr2:181844400-181846600	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:181844400-181846800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:181844400-181847000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:181844400-181847000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:181844400-181847000	Active TSS	Pancreas	Pancrea
18	chr2:181844400-181847000	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr2:181844400-181847200	Active TSS	Right Atrium	heart
20	chr2:181844400-181847400	Active TSS	Thymus	Thymus
21	chr2:181844400-181847600	Active TSS	Aorta	Aorta
22	chr2:181844400-181847600	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:181844600-181845200	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr2:181844600-181845200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:181844600-181845200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:181844600-181845200	Active TSS	Brain Substantia Nigra	brain
27	chr2:181844600-181846000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:181844600-181846200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:181844600-181846200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr2:181844600-181846400	Active TSS	Esophagus	oesophagus
31	chr2:181844600-181846400	Active TSS	Gastric	stomach
32	chr2:181844600-181846400	Active TSS	Small Intestine	intestine
33	chr2:181844600-181846600	Active TSS	Brain Anterior Caudate	brain
34	chr2:181844600-181846600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr2:181844600-181846800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:181844600-181846800	Active TSS	Brain Cingulate Gyrus	brain
37	chr2:181844600-181846800	Active TSS	Left Ventricle	heart
38	chr2:181844600-181846800	Active TSS	Lung	lung
39	chr2:181844600-181847000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:181844600-181847000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:181844600-181847000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:181844600-181847000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr2:181844600-181847000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:181844600-181847000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:181844600-181847000	Active TSS	Brain Angular Gyrus	brain
46	chr2:181844600-181847000	Active TSS	Brain Hippocampus Middle	brain
47	chr2:181844600-181847000	Active TSS	Hela-S3	cervix
48	chr2:181844600-181847200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:181844600-181847200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:181844600-181847200	Active TSS	Psoas Muscle	Psoas

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