Variant report

Variant	rs534336795
Chromosome Location	chr2:98280497-98280498
allele	A/C
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	NFYB	chr2:98280359-98280946	GM12878	blood:	n/a	chr2:98280521-98280536 chr2:98280521-98280536
2	POLR2A	chr2:98278939-98281047	HepG2	liver:	n/a	n/a
3	EBF1	chr2:98279015-98280866	GM12878	blood:	n/a	chr2:98279203-98279214 chr2:98279203-98279216
4	IRF1	chr2:98279227-98281284	K562	blood:	n/a	chr2:98280508-98280522 chr2:98279778-98279792 chr2:98280584-98280598 chr2:98280523-98280532
5	EP300	chr2:98280437-98281213	A549	lung:	n/a	chr2:98280558-98280574 chr2:98280559-98280575
6	FOSL2	chr2:98280386-98280973	MCF-7	breast:	n/a	chr2:98280407-98280416 chr2:98280411-98280420
7	FOXA1	chr2:98280407-98280873	HepG2	liver:	n/a	n/a
8	ELF1	chr2:98280446-98281074	MCF-7	breast:	n/a	n/a
9	TBP	chr2:98279760-98281425	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:98279079-98281239	GM19099	blood:	n/a	n/a
11	PBX3	chr2:98280416-98280693	GM12878	blood:	n/a	n/a
12	NRF1	chr2:98280452-98280652	H1-hESC	embryonic stem cell:	n/a	chr2:98280585-98280594
13	POLR2A	chr2:98279814-98280949	A549	lung:	n/a	n/a
14	POLR2A	chr2:98279822-98281088	HCT-116	colon:	n/a	n/a
15	SRF	chr2:98280425-98280937	ECC-1	luminal epithelium:	n/a	chr2:98280513-98280523
16	PAX5	chr2:98280459-98280828	GM12878	blood:	n/a	n/a
17	ELF1	chr2:98280443-98281015	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr2:98280240-98281289	MCF-7	breast:	n/a	n/a
19	POLR2A	chr2:98279428-98281127	MCF-7	breast:	n/a	n/a
20	POLR2A	chr2:98279422-98280907	HepG2	liver:	n/a	n/a
21	JUND	chr2:98280456-98280838	H1-hESC	embryonic stem cell:	n/a	n/a
22	FOSL2	chr2:98280166-98280953	HepG2	liver:	n/a	chr2:98280407-98280416 chr2:98280411-98280420 chr2:98280223-98280232
23	RELA	chr2:98279075-98281449	GM15510	blood:	n/a	n/a
24	IRF3	chr2:98280480-98280730	Hela-S3	cervix:	n/a	chr2:98280508-98280522 chr2:98280584-98280598 chr2:98280523-98280532
25	SP1	chr2:98280377-98280885	GM12878	blood:	n/a	chr2:98280585-98280594 chr2:98280584-98280596 chr2:98280508-98280519 chr2:98280585-98280595 chr2:98280586-98280595 chr2:98280585-98280595 chr2:98280581-98280595 chr2:98280586-98280595 chr2:98280508-98280520 chr2:98280584-98280595 chr2:98280584-98280596
26	PAX5	chr2:98280410-98281021	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:98279175-98281003	GM15510	blood:	n/a	n/a
28	POLR2A	chr2:98278878-98281363	K562	blood:	n/a	n/a
29	PML	chr2:98280431-98280982	MCF-7	breast:	n/a	n/a
30	YY1	chr2:98279157-98280872	GM12892	blood:	n/a	chr2:98280585-98280594 chr2:98280356-98280370 chr2:98280512-98280526
31	ELF1	chr2:98280432-98280953	HepG2	liver:	n/a	n/a
32	ATF2	chr2:98280422-98281058	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:98277968-98281074	GM12892	blood:	n/a	n/a
34	MYBL2	chr2:98280367-98281197	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:98279086-98281133	GM18951	blood:	n/a	n/a
36	MYC	chr2:98279116-98281408	NB4	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396
37	MAZ	chr2:98279123-98281339	K562	blood:	n/a	chr2:98280224-98280234
38	HA-E2F1	chr2:98279479-98281376	MCF-7	breast:	n/a	chr2:98280412-98280424 chr2:98280708-98280719 chr2:98280523-98280532 chr2:98280224-98280233 chr2:98280585-98280594 chr2:98280361-98280370
39	MAZ	chr2:98279171-98281191	GM12878	blood:	n/a	chr2:98280224-98280234
40	ZBTB7A	chr2:98279870-98280748	K562	blood:	n/a	n/a
41	YY1	chr2:98279581-98281193	GM12878	blood:	n/a	chr2:98280585-98280594 chr2:98280356-98280370 chr2:98280512-98280526
42	JUND	chr2:98279156-98281542	K562	blood:	n/a	chr2:98280407-98280416 chr2:98279467-98279478 chr2:98279470-98279477 chr2:98280411-98280420 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478 chr2:98280223-98280232
43	RFX5	chr2:98279178-98281483	Hela-S3	cervix:	n/a	chr2:98280645-98280659
44	MAX	chr2:98279775-98281022	A549	lung:	n/a	chr2:98280224-98280234
45	POLR2A	chr2:98279226-98281507	K562	blood:	n/a	n/a
46	NFYA	chr2:98280437-98280748	GM12878	blood:	n/a	chr2:98280521-98280536 chr2:98280521-98280536
47	BHLHE40	chr2:98279195-98281292	K562	blood:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
48	POLR2A	chr2:98278131-98281374	Hela-S3	cervix:	n/a	n/a
49	NRF1	chr2:98280479-98280828	K562	blood:	n/a	chr2:98280585-98280594
50	CREB1	chr2:98280122-98280983	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:98205848..98207835-chr2:98279004..98283186,3	MCF-7	breast:
2	chr2:98206110..98207769-chr2:98279652..98281540,2	K562	blood:
3	chr2:98280397..98281205-chr6:170151172..170151729,2	Hela-S3	cervix:
4	chr2:98279098..98281561-chr2:98304916..98307735,3	MCF-7	breast:
5	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
6	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
7	chr12:52444633..52445269-chr2:98280481..98281231,2	Hela-S3	cervix:
8	chr2:98279581..98281603-chr2:98351078..98353477,2	K562	blood:
9	chr16:30546029..30546868-chr2:98279946..98280837,2	Hela-S3	cervix:
10	chr2:98279825..98280513-chr7:32982049..32982668,2	Hela-S3	cervix:
11	chr2:98280019..98280550-chr5:43556723..43557699,2	Hela-S3	cervix:
12	chr2:98278667..98281978-chr2:98283382..98286512,4	K562	blood:
13	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
14	chr17:37360262..37360780-chr2:98280277..98281092,2	Hela-S3	cervix:
15	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

Variant related genes	Relation type
ACTR1B	TF binding region
LINC01125	TF binding region
ENSG00000130023	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000108298	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000196912	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000184786	Chromatin interaction
ENSG00000115085	Chromatin interaction
ENSG00000235560	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3435324	chr2:98279520-98282118	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:98278600-98281600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:98278800-98281400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr2:98279000-98281400	Active TSS	Ovary	ovary
4	chr2:98279000-98281400	Active TSS	Psoas Muscle	Psoas
5	chr2:98279200-98281200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:98279200-98281200	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:98279200-98281200	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr2:98279200-98281400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:98279200-98281400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:98279200-98281400	Active TSS	Left Ventricle	heart
11	chr2:98279200-98281400	Active TSS	GM12878-XiMat	blood
12	chr2:98279200-98281400	Active TSS	NHLF	lung
13	chr2:98279200-98281600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:98279200-98281600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:98279200-98281800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:98279200-98281800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:98279200-98281800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:98279400-98280600	Bivalent/Poised TSS	HepG2	liver
19	chr2:98279400-98281200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:98279400-98281200	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr2:98279400-98281200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:98279400-98281200	Active TSS	Aorta	Aorta
23	chr2:98279400-98281200	Active TSS	Colon Smooth Muscle	Colon
24	chr2:98279400-98281400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:98279400-98281400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:98279400-98281400	Active TSS	Lung	lung
27	chr2:98279400-98281400	Active TSS	NHDF-Ad	bronchial
28	chr2:98279400-98281600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr2:98279400-98281600	Active TSS	Right Ventricle	heart
30	chr2:98279400-98281600	Active TSS	HSMM	muscle
31	chr2:98279400-98281800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:98279400-98281800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:98279400-98282000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:98279600-98281000	Active TSS	Gastric	stomach
35	chr2:98279600-98281000	Active TSS	Spleen	Spleen
36	chr2:98279600-98281200	Active TSS	Brain Hippocampus Middle	brain
37	chr2:98279600-98281200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:98279600-98281200	Active TSS	Small Intestine	intestine
39	chr2:98279600-98281400	Active TSS	Esophagus	oesophagus
40	chr2:98279600-98281400	Active TSS	Fetal Intestine Large	intestine
41	chr2:98279600-98281400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr2:98279600-98281400	Active TSS	A549	lung
43	chr2:98279600-98281600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:98279600-98281600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr2:98279600-98281600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:98279600-98281600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:98279600-98281600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:98279600-98281600	Active TSS	Pancreas	Pancrea
49	chr2:98279800-98281000	Active TSS	Primary B cells from peripheral blood	blood
50	chr2:98279800-98281000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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