Variant report

Variant	rs554587380
Chromosome Location	chr2:134023713-134023714
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	TAF1	chr2:134023707-134024023	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr2:134023712-134024382	IMR90	lung:	n/a	chr2:134024041-134024051 chr2:134024114-134024124
3	POLR2A	chr2:134022398-134025207	Hela-S3	cervix:	n/a	n/a
4	STAT1	chr2:134022542-134024195	Hela-S3	cervix:	n/a	chr2:134023343-134023355 chr2:134024118-134024130 chr2:134023286-134023298
5	SP1	chr2:134023691-134024208	A549	lung:	n/a	chr2:134024054-134024063 chr2:134024117-134024127 chr2:134024117-134024127 chr2:134024118-134024127 chr2:134024118-134024127 chr2:134024116-134024128 chr2:134024116-134024128 chr2:134023731-134023740 chr2:134024113-134024127 chr2:134024117-134024126
6	MAFK	chr2:134022580-134024107	Hela-S3	cervix:	n/a	chr2:134022900-134022916 chr2:134022901-134022915 chr2:134022898-134022918
7	E2F6	chr2:134023688-134024474	H1-hESC	embryonic stem cell:	n/a	chr2:134024044-134024053 chr2:134024178-134024192 chr2:134024117-134024126 chr2:134024033-134024042
8	CTCF	chr2:134023713-134024018	A549	lung:	n/a	n/a
9	CTCF	chr2:134023623-134024026	H1-hESC	embryonic stem cell:	n/a	n/a
10	SMC3	chr2:134022598-134024573	Hela-S3	cervix:	n/a	chr2:134024041-134024051 chr2:134024410-134024420 chr2:134024114-134024124
11	POLR2A	chr2:134022773-134025233	Hela-S3	cervix:	n/a	n/a
12	RFX5	chr2:134022391-134024244	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:134023584-134024434	A549	lung:	n/a	n/a
14	NR2F2	chr2:134023600-134024492	MCF-7	breast:	n/a	n/a
15	MAX	chr2:134022796-134024492	Hela-S3	cervix:	n/a	chr2:134024245-134024255 chr2:134023049-134023058 chr2:134024246-134024255 chr2:134023284-134023294
16	SMARCB1	chr2:134022905-134024499	Hela-S3	cervix:	n/a	n/a
17	ELK1	chr2:134023650-134024039	Hela-S3	cervix:	n/a	n/a
18	E2F6	chr2:134023508-134024486	H1-hESC	embryonic stem cell:	n/a	chr2:134024044-134024053 chr2:134024178-134024192 chr2:134024117-134024126 chr2:134024033-134024042
19	MAX	chr2:134022968-134023853	ECC-1	luminal epithelium:	n/a	chr2:134023049-134023058 chr2:134023284-134023294
20	RXRA	chr2:134023657-134024113	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr2:134022735-134025209	Hela-S3	cervix:	n/a	chr2:134024205-134024216
22	RCOR1	chr2:134022319-134024432	Hela-S3	cervix:	n/a	n/a
23	SIN3A	chr2:134023644-134024552	H1-hESC	embryonic stem cell:	n/a	chr2:134023727-134023740 chr2:134023727-134023738
24	TBP	chr2:134023585-134024344	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr2:134023022-134023909	ECC-1	luminal epithelium:	n/a	chr2:134023049-134023058 chr2:134023284-134023294
26	CTCF	chr2:134023680-134023830	HAc	cerebellar:	n/a	n/a
27	HDAC2	chr2:134023588-134024084	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL3	chr2:134023499-134024135	A549	lung:	n/a	n/a
29	MYC	chr2:134023675-134023774	MCF-7	breast:	n/a	n/a
30	YY1	chr2:134023693-134023958	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr2:134022876-134025211	IMR90	lung:	n/a	n/a
32	POLR2A	chr2:134023571-134024327	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:134023640-134024032	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr2:134022615-134025069	Hela-S3	cervix:	n/a	chr2:134023449-134023456 chr2:134024118-134024128 chr2:134023183-134023193
35	RAD21	chr2:134022387-134024282	Hela-S3	cervix:	n/a	chr2:134024041-134024051 chr2:134024114-134024124
36	MAX	chr2:134022864-134024530	A549	lung:	n/a	chr2:134024245-134024255 chr2:134023049-134023058 chr2:134024246-134024255 chr2:134023284-134023294
37	MAZ	chr2:134022741-134025120	Hela-S3	cervix:	n/a	chr2:134024245-134024255 chr2:134023049-134023058 chr2:134024246-134024255 chr2:134023284-134023294
38	CTCF	chr2:134023697-134024032	IMR90	lung:	n/a	n/a
39	MAX	chr2:134023433-134024505	H1-hESC	embryonic stem cell:	n/a	chr2:134024245-134024255 chr2:134024246-134024255
40	POLR2A	chr2:134023611-134023853	A549	lung:	n/a	n/a
41	BRCA1	chr2:134022507-134023986	Hela-S3	cervix:	n/a	n/a
42	NFYA	chr2:134022868-134023923	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:134023124-134024240	A549	lung:	n/a	chr2:134023325-134023338 chr2:134023331-134023344 chr2:134024038-134024051 chr2:134024111-134024124
44	MAX	chr2:134022959-134024432	Hela-S3	cervix:	n/a	chr2:134024245-134024255 chr2:134023049-134023058 chr2:134024246-134024255 chr2:134023284-134023294
45	POLR2A	chr2:134023598-134023792	MCF-7	breast:	n/a	n/a
46	E2F6	chr2:134023556-134024352	A549	lung:	n/a	chr2:134024044-134024053 chr2:134024178-134024192 chr2:134024117-134024126 chr2:134024033-134024042
47	POLR2A	chr2:134023430-134024487	SK-N-MC	brain:	n/a	n/a
48	HA-E2F1	chr2:134023047-134024581	Hela-S3	cervix:	n/a	chr2:134023449-134023456 chr2:134023449-134023460 chr2:134024044-134024053 chr2:134024178-134024192 chr2:134024117-134024126 chr2:134024033-134024042
49	MYC	chr2:134022825-134024460	Hela-S3	cervix:	n/a	chr2:134024245-134024255 chr2:134023049-134023058 chr2:134024246-134024255 chr2:134023284-134023294
50	MAX	chr2:134023080-134024386	H1-hESC	embryonic stem cell:	n/a	chr2:134024245-134024255 chr2:134024246-134024255 chr2:134023284-134023294

No.	Distal block	Cell Line	Cell type
1	chr16:30709997..30710818-chr2:134023319..134023932,2	Hela-S3	cervix:
2	chr19:18793804..18794673-chr2:134023005..134023895,2	Hela-S3	cervix:
3	chr1:154946346..154946996-chr2:134023337..134024323,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000226953	TF binding region
ENSG00000261840	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000105662	Chromatin interaction
ENSG00000080603	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3367779	chr2:134023582-134025680	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134022400-134023800	Weak transcription	Fetal Kidney	kidney
2	chr2:134022400-134024000	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr2:134022400-134024200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:134022600-134024000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:134022600-134024400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:134022800-134023800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:134022800-134023800	Enhancers	HUVEC	blood vessel
8	chr2:134022800-134024000	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr2:134022800-134024200	Active TSS	Brain Substantia Nigra	brain
10	chr2:134022800-134024400	Active TSS	Placenta	Placenta
11	chr2:134022800-134025000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr2:134022800-134025000	Enhancers	Fetal Heart	heart
13	chr2:134022800-134025000	Active TSS	Hela-S3	cervix
14	chr2:134022800-134025200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:134023000-134023800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:134023000-134023800	Enhancers	Fetal Brain Male	brain
17	chr2:134023000-134023800	Enhancers	Pancreas	Pancrea
18	chr2:134023000-134023800	Enhancers	NH-A	brain
19	chr2:134023000-134024000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:134023000-134024000	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr2:134023000-134024200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:134023000-134024400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:134023000-134024400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr2:134023000-134024400	Active TSS	Rectal Smooth Muscle	rectum
25	chr2:134023000-134024400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr2:134023000-134024800	Active TSS	Left Ventricle	heart
27	chr2:134023000-134024800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:134023000-134025000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr2:134023000-134025000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr2:134023000-134025200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:134023000-134025200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:134023000-134025200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:134023000-134025200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr2:134023000-134025200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:134023200-134023800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:134023200-134023800	Active TSS	Duodenum Mucosa	Duodenum
37	chr2:134023200-134023800	Enhancers	Esophagus	oesophagus
38	chr2:134023200-134023800	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr2:134023200-134023800	Flanking Active TSS	Right Ventricle	heart
40	chr2:134023200-134023800	Enhancers	HMEC	breast
41	chr2:134023200-134024000	Flanking Active TSS	Lung	lung
42	chr2:134023200-134024000	Enhancers	Spleen	Spleen
43	chr2:134023200-134024200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:134023200-134024400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:134023200-134024800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr2:134023200-134024800	Active TSS	Psoas Muscle	Psoas
47	chr2:134023200-134024800	Active TSS	Right Atrium	heart
48	chr2:134023200-134025200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr2:134023400-134023800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:134023400-134023800	Bivalent/Poised TSS	Adipose Nuclei	Adipose

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