Variant report

Variant	rs377119829
Chromosome Location	chr2:148601326-148601327
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	POLR2A	chr2:148601284-148602455	HepG2	liver:	n/a	n/a
2	MYC	chr2:148601246-148602656	MCF10A-Er-Src	breast:	n/a	n/a
3	RUNX3	chr2:148601241-148602539	GM12878	blood:	n/a	n/a
4	REST	chr2:148600840-148605989	H1-neurons	neurons:	n/a	chr2:148601480-148601493 chr2:148603066-148603073
5	POLR2A	chr2:148600929-148603195	HepG2	liver:	n/a	n/a
6	HNF4A	chr2:148601304-148602487	HepG2	liver:	n/a	n/a
7	MTA3	chr2:148601138-148601862	GM12878	blood:	n/a	n/a
8	RAD21	chr2:148601210-148601798	IMR90	lung:	n/a	n/a
9	MAX	chr2:148600990-148602550	HepG2	liver:	n/a	n/a
10	TBP	chr2:148601071-148602565	HepG2	liver:	n/a	chr2:148601120-148601131
11	POLR2A	chr2:148601108-148601932	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr2:148601318-148601916	A549	lung:	n/a	n/a
13	E2F6	chr2:148601163-148601509	K562	blood:	n/a	chr2:148601488-148601497
14	POLR2A	chr2:148601048-148602584	IMR90	lung:	n/a	n/a
15	POLR2A	chr2:148601101-148602452	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:148601169-148601935	HepG2	liver:	n/a	n/a
17	TAF1	chr2:148601258-148602473	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr2:148601304-148602548	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:148601228-148602407	Gliobla	brain:	n/a	n/a
20	MBD4	chr2:148600870-148601543	HepG2	liver:	n/a	n/a
21	CREB1	chr2:148601291-148601951	A549	lung:	n/a	n/a
22	RAD21	chr2:148601216-148601708	HepG2	liver:	n/a	n/a
23	MAX	chr2:148601103-148602516	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:148601296-148601964	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr2:148601323-148602516	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:148601322-148601352	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:148601180-148601330	HPF	lung:	n/a	n/a
28	CTCF	chr2:148601320-148601470	HVMF	connective:	n/a	n/a
29	TAF1	chr2:148601173-148601949	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr2:148601267-148603202	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:148601159-148601925	HUVEC	blood vessel:	n/a	n/a
32	GATA2	chr2:148601145-148601903	SH-SY5Y	brain:	n/a	n/a
33	HDAC2	chr2:148601159-148601912	HepG2	liver:	n/a	chr2:148601361-148601375 chr2:148601363-148601377 chr2:148601365-148601379 chr2:148601362-148601376
34	CREB1	chr2:148600993-148602539	HepG2	liver:	n/a	n/a
35	MAX	chr2:148601138-148602333	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr2:148601311-148602499	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr2:148600836-148602173	H1-hESC	embryonic stem cell:	n/a	chr2:148601488-148601497
38	RAD21	chr2:148601237-148601670	SK-N-SH_RA	brain:	n/a	n/a
39	SETDB1	chr2:148600430-148601443	U2OS	brain:	n/a	n/a
40	POLR2A	chr2:148601276-148602680	GM12892	blood:	n/a	n/a
41	POLR2A	chr2:148601131-148603559	H1-neurons	neurons:	n/a	n/a
42	E2F6	chr2:148601207-148602119	A549	lung:	n/a	chr2:148601488-148601497
43	E2F6	chr2:148601128-148602495	K562	blood:	n/a	chr2:148602316-148602326 chr2:148602334-148602344 chr2:148602337-148602347 chr2:148601488-148601497
44	MAX	chr2:148600818-148602545	HepG2	liver:	n/a	n/a
45	BACH1	chr2:148601138-148601830	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr2:148601309-148601947	A549	lung:	n/a	n/a
47	E2F6	chr2:148601179-148602208	K562	blood:	n/a	chr2:148601488-148601497
48	CTCF	chr2:148601280-148601430	HAc	cerebellar:	n/a	n/a
49	ZBTB7A	chr2:148601182-148601829	ECC-1	luminal epithelium:	n/a	chr2:148601780-148601787 chr2:148601660-148601671 chr2:148601587-148601594 chr2:148601659-148601670
50	REST	chr2:148601303-148601960	HepG2	liver:	n/a	chr2:148601480-148601493

No.	Distal block	Cell Line	Cell type
1	chr2:148567317..148569523-chr2:148600689..148602415,2	MCF-7	breast:
2	chr2:148600187..148601857-chr2:148665482..148668201,2	MCF-7	breast:
3	chr2:148589254..148592247-chr2:148597949..148601498,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ORC4-2	chr2:148600791-148601664	NONHSAT074859

Variant related genes	Relation type
ACVR2A	TF binding region
ENSG00000229143	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3426833	chr2:148600907-148603455	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3446571	chr2:148601082-148603305	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148600400-148601600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:148600400-148604400	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:148600400-148606200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:148600600-148603800	Active TSS	Brain Anterior Caudate	brain
5	chr2:148600600-148604600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:148600600-148604600	Active TSS	Fetal Brain Female	brain
7	chr2:148600600-148605800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:148600600-148606200	Active TSS	HSMMtube	muscle
9	chr2:148600800-148601400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:148600800-148601400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr2:148600800-148601400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:148600800-148601400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:148600800-148601400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr2:148600800-148601400	Flanking Active TSS	Liver	Liver
15	chr2:148600800-148601400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr2:148600800-148601400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr2:148600800-148601400	Flanking Active TSS	Fetal Brain Male	brain
18	chr2:148600800-148601400	Flanking Active TSS	Fetal Lung	lung
19	chr2:148600800-148601400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:148600800-148601400	Flanking Active TSS	Stomach Mucosa	stomach
21	chr2:148600800-148601400	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr2:148600800-148601400	Flanking Active TSS	HUVEC	blood vessel
23	chr2:148600800-148601600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr2:148600800-148601600	Bivalent/Poised TSS	GM12878-XiMat	blood
25	chr2:148600800-148601800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr2:148600800-148601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:148600800-148603600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:148600800-148603600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:148600800-148603800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:148600800-148603800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:148600800-148603800	Active TSS	Fetal Muscle Leg	muscle
32	chr2:148600800-148604000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:148600800-148604000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:148600800-148604200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr2:148600800-148604200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:148600800-148604200	Active TSS	HSMM	muscle
37	chr2:148600800-148604400	Active TSS	Fetal Stomach	stomach
38	chr2:148600800-148604400	Active TSS	Ovary	ovary
39	chr2:148600800-148604600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:148600800-148604600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:148600800-148604800	Active TSS	Right Atrium	heart
42	chr2:148600800-148605000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:148601000-148601400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr2:148601000-148601400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr2:148601000-148601400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr2:148601000-148601400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:148601000-148601400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:148601000-148601400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:148601000-148601400	Flanking Active TSS	Placenta	Placenta
50	chr2:148601000-148601400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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