Variant report

Variant	rs538494579
Chromosome Location	chr14:38063966-38063967
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	POLR2A	chr14:38063500-38065371	ProgFib	skin:	n/a	n/a
2	REST	chr14:38063314-38065795	HepG2	liver:	n/a	chr14:38064034-38064044 chr14:38065269-38065282
3	POLR2A	chr14:38063256-38065621	Hela-S3	cervix:	n/a	n/a
4	HDAC2	chr14:38063258-38064343	MCF-7	breast:	n/a	chr14:38064284-38064293 chr14:38063289-38063303 chr14:38063290-38063304
5	MBD4	chr14:38062469-38066000	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:38063775-38064690	HepG2	liver:	n/a	n/a
7	ZNF143	chr14:38063373-38064237	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:38063610-38065883	MCF-7	breast:	n/a	n/a
9	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:38063093-38065769	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr14:38063390-38065891	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:38063223-38065902	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:38062953-38066652	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr14:38063338-38065476	Hela-S3	cervix:	n/a	chr14:38064741-38064751
15	RCOR1	chr14:38063421-38066027	HepG2	liver:	n/a	n/a
16	HA-E2F1	chr14:38063407-38065989	MCF-7	breast:	n/a	chr14:38065392-38065404 chr14:38065519-38065531 chr14:38065518-38065533 chr14:38064782-38064792
17	JUND	chr14:38062628-38066066	MCF-7	breast:	n/a	chr14:38064795-38064804 chr14:38065116-38065126 chr14:38063103-38063111 chr14:38065214-38065223 chr14:38063106-38063118 chr14:38064080-38064089 chr14:38065116-38065126 chr14:38062672-38062682 chr14:38065212-38065223 chr14:38065116-38065126 chr14:38064791-38064800 chr14:38063103-38063110 chr14:38065396-38065405 chr14:38065116-38065126 chr14:38063967-38063976 chr14:38065213-38065222
18	RFX5	chr14:38063260-38064319	Hela-S3	cervix:	n/a	n/a
19	MAX	chr14:38063378-38064012	K562	blood:	n/a	n/a
20	POLR2A	chr14:38063831-38064860	HEK293	kidney:	n/a	n/a
21	NR2F2	chr14:38063222-38066101	MCF-7	breast:	n/a	n/a
22	YY1	chr14:38063590-38065810	HepG2	liver:	n/a	chr14:38064841-38064855
23	SIN3AK20	chr14:38060259-38066080	MCF-7	breast:	n/a	n/a
24	MAX	chr14:38063265-38066034	HepG2	liver:	n/a	chr14:38064741-38064751
25	RAD21	chr14:38063351-38064208	IMR90	lung:	n/a	chr14:38063549-38063568
26	TCF7L2	chr14:38063472-38064653	HCT-116	colon:	n/a	n/a
27	CTBP2	chr14:38063545-38065794	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr14:38063642-38064723	HepG2	liver:	n/a	n/a
29	HA-E2F1	chr14:38063650-38065586	Hela-S3	cervix:	n/a	chr14:38065392-38065404 chr14:38065519-38065531 chr14:38065518-38065533 chr14:38064782-38064792
30	POLR2A	chr14:38063785-38065819	HepG2	liver:	n/a	n/a
31	GATA3	chr14:38063361-38065823	MCF-7	breast:	n/a	n/a
32	ZNF263	chr14:38062768-38066049	HEK293-T-REx	kidney:	n/a	chr14:38065390-38065399 chr14:38064974-38064983
33	MAX	chr14:38063390-38065930	HepG2	liver:	n/a	chr14:38064741-38064751
34	MAX	chr14:38063310-38063989	A549	lung:	n/a	n/a
35	MAX	chr14:38063221-38065953	A549	lung:	n/a	chr14:38064741-38064751
36	E2F6	chr14:38063777-38064623	K562	blood:	n/a	n/a
37	EP300	chr14:38062686-38065992	MCF-7	breast:	n/a	chr14:38063806-38063822 chr14:38063793-38063809 chr14:38064922-38064938 chr14:38065416-38065429
38	POLR2A	chr14:38063297-38066604	HepG2	liver:	n/a	n/a
39	MAX	chr14:38063166-38066136	HepG2	liver:	n/a	chr14:38064741-38064751
40	E2F1	chr14:38063689-38064658	Hela-S3	cervix:	n/a	n/a
41	SUZ12	chr14:38063382-38065945	NT2-D1	testis:	n/a	n/a
42	RAD21	chr14:38063286-38064042	HepG2	liver:	n/a	chr14:38063549-38063568
43	MAX	chr14:38063158-38063998	MCF-7	breast:	n/a	n/a
44	GATA3	chr14:38062684-38064001	MCF-7	breast:	n/a	chr14:38063101-38063110 chr14:38062965-38062981
45	MAZ	chr14:38063363-38065516	Hela-S3	cervix:	n/a	chr14:38064741-38064751
46	POLR2A	chr14:38063827-38065860	K562	blood:	n/a	n/a
47	HNF4A	chr14:38063393-38065735	HepG2	liver:	n/a	chr14:38065454-38065466 chr14:38064963-38064978 chr14:38064994-38065006 chr14:38064992-38065007 chr14:38065457-38065469
48	HMGN3	chr14:38063707-38065677	K562	blood:	n/a	chr14:38065118-38065127
49	TAF1	chr14:38063219-38065949	MCF-7	breast:	n/a	n/a
50	MAX	chr14:38063185-38066099	MCF-7	breast:	n/a	chr14:38064741-38064751

No.	Distal block	Cell Line	Cell type
1	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
2	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:
3	chr14:38061626..38064274-chr8:144362134..144365132,2	MCF-7	breast:
4	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
5	chr14:38063715..38066524-chr16:54963024..54965693,2	MCF-7	breast:
6	chr14:38062598..38064269-chr16:87798800..87800930,2	MCF-7	breast:
7	chr14:38061973..38064113-chr8:48650908..48653008,2	MCF-7	breast:
8	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
9	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
10	chr12:133136306..133139084-chr14:38062974..38065575,2	MCF-7	breast:
11	chr14:38035462..38036377-chr14:38063741..38064636,2	MCF-7	breast:
12	chr12:52638172..52640523-chr14:38063240..38065213,2	MCF-7	breast:
13	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
14	chr14:38063644..38065305-chr17:59487657..59489465,2	MCF-7	breast:
15	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
16	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
17	chr14:38063458..38065003-chr17:45607681..45609442,2	MCF-7	breast:
18	chr14:37641087..37642667-chr14:38063502..38066629,3	MCF-7	breast:

Variant related genes	Relation type
FOXA1	TF binding region
TTC6	TF binding region
ENSG00000253716	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000176842	Chromatin interaction
ENSG00000207046	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000111679	Chromatin interaction
ENSG00000104731	Chromatin interaction
ENSG00000245694	Chromatin interaction
ENSG00000112787	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000183032	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000259087	Chromatin interaction
ENSG00000135480	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901644	chr14:38049107-38064738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv901645	chr14:38051035-38064215	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv901647	chr14:38052110-38064738	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv901648	chr14:38052110-38065813	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv901649	chr14:38053334-38065813	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	esv3405207	chr14:38062726-38066074	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38056200-38065600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
2	chr14:38056400-38066000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
3	chr14:38057000-38065400	Active TSS	Liver	Liver
4	chr14:38059800-38065600	Active TSS	A549	lung
5	chr14:38060400-38064000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr14:38060600-38064000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
7	chr14:38061800-38064600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:38062400-38064000	Active TSS	Colonic Mucosa	Colon
9	chr14:38062400-38064400	Active TSS	Small Intestine	intestine
10	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
12	chr14:38062800-38065600	Active TSS	K562	blood
13	chr14:38063000-38065600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr14:38063200-38065200	Active TSS	Duodenum Mucosa	Duodenum
15	chr14:38063200-38065400	Active TSS	Hela-S3	cervix
16	chr14:38063200-38065600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:38063400-38064200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
18	chr14:38063400-38064200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:38063400-38064200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:38063400-38064200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
21	chr14:38063400-38064200	Bivalent/Poised TSS	NHDF-Ad	bronchial
22	chr14:38063400-38064400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:38063400-38064600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:38063400-38064600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:38063400-38064600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:38063400-38064600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
27	chr14:38063400-38064600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:38063400-38064600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:38063400-38064600	Active TSS	HSMMtube	muscle
30	chr14:38063400-38064800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:38063400-38064800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:38063400-38064800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:38063400-38064800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:38063400-38065000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:38063400-38065000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:38063400-38065200	Active TSS	Right Atrium	heart
37	chr14:38063400-38065400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr14:38063400-38065400	Active TSS	Right Ventricle	heart
39	chr14:38063400-38065600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr14:38063400-38065800	Active TSS	Gastric	stomach
41	chr14:38063600-38064000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr14:38063600-38064000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr14:38063600-38064000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
44	chr14:38063600-38064000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr14:38063600-38064000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr14:38063600-38064000	Flanking Bivalent TSS/Enh	Placenta	Placenta
47	chr14:38063600-38064000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:38063600-38064200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr14:38063600-38064200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
50	chr14:38063600-38064200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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