Variant report

Variant	rs139143943
Chromosome Location	chr2:98279540-98279541
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	POLR2A	chr2:98278939-98281047	HepG2	liver:	n/a	n/a
2	MYC	chr2:98279300-98279805	MCF10A-Er-Src	breast:	n/a	chr2:98279386-98279396
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	MAFF	chr2:98279142-98279878	K562	blood:	n/a	n/a
6	TAF1	chr2:98279138-98279762	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr2:98279420-98279570	HPAF	blood vessel:	n/a	n/a
8	GTF2F1	chr2:98279342-98279954	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:98279079-98281239	GM19099	blood:	n/a	n/a
10	TBP	chr2:98279301-98280154	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:98279158-98280381	K562	blood:	n/a	n/a
12	TEAD4	chr2:98279054-98280052	HepG2	liver:	n/a	chr2:98279746-98279755
13	TEAD4	chr2:98279350-98279947	K562	blood:	n/a	chr2:98279746-98279755
14	BCLAF1	chr2:98279107-98280050	GM12878	blood:	n/a	chr2:98279469-98279478
15	RAD21	chr2:98279250-98279649	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr2:98277387-98280171	K562	blood:	n/a	n/a
17	POLR2A	chr2:98279428-98281127	MCF-7	breast:	n/a	n/a
18	POLR2A	chr2:98279422-98280907	HepG2	liver:	n/a	n/a
19	RELA	chr2:98279075-98281449	GM15510	blood:	n/a	n/a
20	GABPA	chr2:98279536-98279719	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:98279175-98281003	GM15510	blood:	n/a	n/a
22	GABPA	chr2:98279342-98279867	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr2:98278878-98281363	K562	blood:	n/a	n/a
24	YY1	chr2:98279157-98280872	GM12892	blood:	n/a	chr2:98280585-98280594 chr2:98280356-98280370 chr2:98280512-98280526
25	CUX1	chr2:98279360-98279838	K562	blood:	n/a	n/a
26	POLR2A	chr2:98277968-98281074	GM12892	blood:	n/a	n/a
27	JUN	chr2:98279205-98280225	K562	blood:	n/a	chr2:98279470-98279477 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478
28	POLR2A	chr2:98279086-98281133	GM18951	blood:	n/a	n/a
29	MYC	chr2:98279116-98281408	NB4	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396
30	MAZ	chr2:98279123-98281339	K562	blood:	n/a	chr2:98280224-98280234
31	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
32	ELK1	chr2:98279369-98279787	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr2:98279171-98281191	GM12878	blood:	n/a	chr2:98280224-98280234
34	ZKSCAN1	chr2:98279416-98279850	Hela-S3	cervix:	n/a	n/a
35	NR2F2	chr2:98279126-98280143	K562	blood:	n/a	n/a
36	POLR2A	chr2:98279533-98279740	SK-N-SH	brain:	n/a	n/a
37	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
38	RFX5	chr2:98279178-98281483	Hela-S3	cervix:	n/a	chr2:98280645-98280659
39	POLR2A	chr2:98279226-98281507	K562	blood:	n/a	n/a
40	BHLHE40	chr2:98279195-98281292	K562	blood:	n/a	chr2:98280437-98280453 chr2:98280556-98280572
41	POLR2A	chr2:98278131-98281374	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr2:98279093-98281083	HUVEC	blood vessel:	n/a	n/a
43	TBP	chr2:98279169-98281431	K562	blood:	n/a	n/a
44	POLR2A	chr2:98279459-98280933	Gliobla	brain:	n/a	n/a
45	POLR2A	chr2:98279096-98281055	HUVEC	blood vessel:	n/a	n/a
46	EP300	chr2:98279236-98279583	GM12878	blood:	n/a	chr2:98279468-98279477
47	FOS	chr2:98279240-98279658	MCF10A-Er-Src	breast:	n/a	chr2:98279470-98279477 chr2:98279375-98279383 chr2:98279468-98279477 chr2:98279467-98279478 chr2:98279373-98279384 chr2:98279468-98279478 chr2:98279468-98279478
48	STAT5A	chr2:98279131-98280325	GM12878	blood:	n/a	chr2:98279469-98279478
49	STAT3	chr2:98279311-98279605	MCF10A-Er-Src	breast:	n/a	chr2:98279469-98279478
50	MAX	chr2:98279101-98281159	K562	blood:	n/a	chr2:98280224-98280234 chr2:98279386-98279396

No.	Distal block	Cell Line	Cell type
1	chr2:98205848..98207835-chr2:98279004..98283186,3	MCF-7	breast:
2	chr2:98278220..98280235-chr2:98364964..98367550,2	K562	blood:
3	chr2:98279098..98281561-chr2:98304916..98307735,3	MCF-7	breast:
4	chr2:98279310..98282281-chr2:98310556..98313961,3	MCF-7	breast:
5	chr2:98277235..98279650-chr2:98312622..98314344,2	K562	blood:
6	chr2:98277787..98279697-chr2:98287927..98289913,2	MCF-7	breast:
7	chr2:98278667..98281978-chr2:98283382..98286512,4	K562	blood:
8	chr2:98278665..98281371-chr2:98305087..98308005,4	MCF-7	breast:
9	chr2:98277609..98280060-chr2:98302722..98304227,2	MCF-7	breast:
10	chr2:98279513..98282179-chr2:98292256..98296228,3	MCF-7	breast:

Variant related genes	Relation type
LINC01125	TF binding region
ACTR1B	TF binding region
ENSG00000196912	Chromatin interaction
ENSG00000228486	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	chr2:98277800-98279600	Enhancers	Spleen	Spleen
2	chr2:98277800-98279800	Flanking Active TSS	Brain Angular Gyrus	brain
3	chr2:98278000-98279800	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr2:98278000-98279800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:98278000-98279800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:98278200-98280000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr2:98278200-98280000	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr2:98278400-98279600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:98278400-98279800	Flanking Active TSS	K562	blood
10	chr2:98278400-98280200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:98278600-98279600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr2:98278600-98279600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:98278600-98279800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:98278600-98279800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr2:98278600-98279800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:98278600-98279800	Flanking Active TSS	Thymus	Thymus
17	chr2:98278600-98279800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:98278600-98280000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr2:98278600-98280000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:98278600-98280000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:98278600-98280000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:98278600-98280000	Flanking Active TSS	Colonic Mucosa	Colon
23	chr2:98278600-98280000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr2:98278600-98280000	Flanking Active TSS	NH-A	brain
25	chr2:98278600-98281600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:98278800-98279600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:98278800-98279600	Flanking Active TSS	Fetal Heart	heart
28	chr2:98278800-98279600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:98278800-98279600	Flanking Active TSS	A549	lung
30	chr2:98278800-98279600	Flanking Active TSS	Dnd41	blood
31	chr2:98278800-98279800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:98278800-98279800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:98278800-98279800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:98278800-98279800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr2:98278800-98279800	Flanking Active TSS	Osteobl	bone
36	chr2:98278800-98280000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:98278800-98280000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr2:98278800-98280000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:98278800-98280000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:98278800-98280000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr2:98278800-98280000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:98278800-98280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:98278800-98280000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:98278800-98280000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:98278800-98280000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr2:98278800-98280000	Flanking Active TSS	HMEC	breast
47	chr2:98278800-98280000	Flanking Active TSS	HSMMtube	muscle
48	chr2:98278800-98281400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:98279000-98279600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:98279000-98279600	Flanking Active TSS	Fetal Intestine Large	intestine

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