Variant report

Variant	rs569681558
Chromosome Location	chr14:38064631-38064632
allele	G/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	chr14:38063500-38065371	ProgFib	skin:	n/a	n/a
2	POLR2A	chr14:38064025-38065942	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:38064367-38065778	MCF-7	breast:	n/a	n/a
4	REST	chr14:38063314-38065795	HepG2	liver:	n/a	chr14:38064034-38064044 chr14:38065269-38065282
5	ZBTB7A	chr14:38064426-38065016	K562	blood:	n/a	n/a
6	POLR2A	chr14:38063256-38065621	Hela-S3	cervix:	n/a	n/a
7	HDAC2	chr14:38064385-38065999	MCF-7	breast:	n/a	chr14:38064764-38064778 chr14:38065036-38065050 chr14:38065033-38065047 chr14:38065035-38065049 chr14:38064765-38064779
8	POLR2A	chr14:38064367-38064654	ECC-1	luminal epithelium:	n/a	n/a
9	MBD4	chr14:38062469-38066000	HepG2	liver:	n/a	n/a
10	TCF12	chr14:38064333-38065905	A549	lung:	n/a	chr14:38065551-38065559
11	POLR2A	chr14:38063775-38064690	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:38063610-38065883	MCF-7	breast:	n/a	n/a
13	ZBTB7A	chr14:38064420-38065123	ECC-1	luminal epithelium:	n/a	n/a
14	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
15	SP1	chr14:38064443-38065753	A549	lung:	n/a	chr14:38065395-38065404 chr14:38065465-38065477 chr14:38064737-38064751 chr14:38065466-38065475 chr14:38065394-38065408 chr14:38065387-38065401 chr14:38065393-38065405 chr14:38065393-38065405 chr14:38065462-38065476
16	POLR2A	chr14:38063093-38065769	Hela-S3	cervix:	n/a	n/a
17	RFX5	chr14:38063390-38065891	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:38063223-38065902	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:38062953-38066652	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr14:38063338-38065476	Hela-S3	cervix:	n/a	chr14:38064741-38064751
21	MAX	chr14:38064060-38065804	A549	lung:	n/a	chr14:38064741-38064751
22	RCOR1	chr14:38063421-38066027	HepG2	liver:	n/a	n/a
23	HA-E2F1	chr14:38063407-38065989	MCF-7	breast:	n/a	chr14:38065392-38065404 chr14:38065519-38065531 chr14:38065518-38065533 chr14:38064782-38064792
24	RAD21	chr14:38064596-38065827	MCF-7	breast:	n/a	n/a
25	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
26	JUND	chr14:38064440-38065639	K562	blood:	n/a	chr14:38064795-38064804 chr14:38065116-38065126 chr14:38065214-38065223 chr14:38065116-38065126 chr14:38065212-38065223 chr14:38065116-38065126 chr14:38064791-38064800 chr14:38065396-38065405 chr14:38065116-38065126 chr14:38065213-38065222
27	POLR2A	chr14:38063831-38064860	HEK293	kidney:	n/a	n/a
28	FOXA2	chr14:38064484-38064906	A549	lung:	n/a	n/a
29	NR2F2	chr14:38063222-38066101	MCF-7	breast:	n/a	n/a
30	YY1	chr14:38063590-38065810	HepG2	liver:	n/a	chr14:38064841-38064855
31	SIN3AK20	chr14:38060259-38066080	MCF-7	breast:	n/a	n/a
32	MAX	chr14:38063265-38066034	HepG2	liver:	n/a	chr14:38064741-38064751
33	FOXA2	chr14:38064342-38065650	HepG2	liver:	n/a	n/a
34	TCF7L2	chr14:38063472-38064653	HCT-116	colon:	n/a	n/a
35	GATA3	chr14:38064013-38066440	MCF-7	breast:	n/a	chr14:38066429-38066436
36	JUND	chr14:38064474-38065406	A549	lung:	n/a	chr14:38064795-38064804 chr14:38065116-38065126 chr14:38065214-38065223 chr14:38065116-38065126 chr14:38065212-38065223 chr14:38065116-38065126 chr14:38064791-38064800 chr14:38065396-38065405 chr14:38065116-38065126 chr14:38065213-38065222
37	CTBP2	chr14:38063545-38065794	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr14:38063967-38065075	ECC-1	luminal epithelium:	n/a	chr14:38064741-38064751
39	POLR2A	chr14:38064137-38065676	A549	lung:	n/a	n/a
40	TAF1	chr14:38063642-38064723	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:38064079-38064995	ECC-1	luminal epithelium:	n/a	n/a
42	TBP	chr14:38064073-38065842	K562	blood:	n/a	n/a
43	HA-E2F1	chr14:38063650-38065586	Hela-S3	cervix:	n/a	chr14:38065392-38065404 chr14:38065519-38065531 chr14:38065518-38065533 chr14:38064782-38064792
44	POLR2A	chr14:38063785-38065819	HepG2	liver:	n/a	n/a
45	GATA3	chr14:38063996-38065914	T-47D	breast:	n/a	n/a
46	GATA3	chr14:38063361-38065823	MCF-7	breast:	n/a	n/a
47	ZNF263	chr14:38062768-38066049	HEK293-T-REx	kidney:	n/a	chr14:38065390-38065399 chr14:38064974-38064983
48	SIN3AK20	chr14:38063985-38065743	HepG2	liver:	n/a	n/a
49	EP300	chr14:38064427-38064962	T-47D	breast:	n/a	chr14:38064922-38064938
50	POLR2A	chr14:38064339-38065913	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:
2	chr14:38064152..38064718-chr3:172468271..172468926,2	Hela-S3	cervix:
3	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
4	chr14:38064575..38066712-chr14:38067823..38069498,2	K562	blood:
5	chr14:38063715..38066524-chr16:54963024..54965693,2	MCF-7	breast:
6	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
7	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
8	chr12:133136306..133139084-chr14:38062974..38065575,2	MCF-7	breast:
9	chr14:38035462..38036377-chr14:38063741..38064636,2	MCF-7	breast:
10	chr14:38064124..38065674-chr20:47662197..47664307,2	MCF-7	breast:
11	chr12:52638172..52640523-chr14:38063240..38065213,2	MCF-7	breast:
12	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
13	chr14:38064027..38066439-chr20:52209479..52211136,2	MCF-7	breast:
14	chr14:38063644..38065305-chr17:59487657..59489465,2	MCF-7	breast:
15	chr14:38064151..38065863-chr2:43452314..43453931,2	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
ENSG00000176842	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000112787	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000245694	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000124207	Chromatin interaction
ENSG00000183032	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000259087	Chromatin interaction
ENSG00000111679	Chromatin interaction
ENSG00000227431	Chromatin interaction
ENSG00000135480	Chromatin interaction
ENSG00000114346	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000171940	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
8	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
9	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
10	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
11	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
12	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:97 , 50 per page) page: 1 2

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	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
7	chr14:38062800-38065600	Active TSS	K562	blood
8	chr14:38063000-38065600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:38063200-38065200	Active TSS	Duodenum Mucosa	Duodenum
10	chr14:38063200-38065400	Active TSS	Hela-S3	cervix
11	chr14:38063200-38065600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
12	chr14:38063400-38064800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:38063400-38064800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:38063400-38064800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:38063400-38064800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:38063400-38065000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:38063400-38065000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:38063400-38065200	Active TSS	Right Atrium	heart
19	chr14:38063400-38065400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr14:38063400-38065400	Active TSS	Right Ventricle	heart
21	chr14:38063400-38065600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:38063400-38065800	Active TSS	Gastric	stomach
23	chr14:38063600-38064800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr14:38063600-38064800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:38063600-38064800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:38063600-38064800	Active TSS	Ovary	ovary
27	chr14:38063600-38064800	Bivalent/Poised TSS	Thymus	Thymus
28	chr14:38063600-38064800	Active TSS	NHLF	lung
29	chr14:38063600-38065000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:38063600-38065000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr14:38063600-38065000	Active TSS	HSMM	muscle
32	chr14:38063600-38065200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:38063600-38065200	Active TSS	HMEC	breast
34	chr14:38063600-38065200	Active TSS	NHEK	skin
35	chr14:38063600-38065400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr14:38063600-38065400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:38063600-38065400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:38063600-38065400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:38063600-38065400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr14:38063600-38065600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:38063600-38065600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:38063600-38065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr14:38063600-38065600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr14:38063600-38065800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr14:38063600-38065800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:38063600-38065800	Active TSS	Esophagus	oesophagus
47	chr14:38063800-38064800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:38063800-38064800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:38063800-38064800	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr14:38063800-38064800	Bivalent/Poised TSS	Fetal Stomach	stomach

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