Variant report

Variant	rs527938833
Chromosome Location	chr14:38064356-38064357
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	MAX	chr14:38064068-38064573	K562	blood:	n/a	n/a
4	REST	chr14:38063314-38065795	HepG2	liver:	n/a	chr14:38064034-38064044 chr14:38065269-38065282
5	POLR2A	chr14:38063256-38065621	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr14:38064185-38064523	Hela-S3	cervix:	n/a	n/a
7	MBD4	chr14:38062469-38066000	HepG2	liver:	n/a	n/a
8	TCF12	chr14:38064333-38065905	A549	lung:	n/a	chr14:38065551-38065559
9	POLR2A	chr14:38063775-38064690	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:38063610-38065883	MCF-7	breast:	n/a	n/a
11	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
12	SMC3	chr14:38064155-38064569	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:38063093-38065769	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr14:38063390-38065891	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:38063223-38065902	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:38062953-38066652	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr14:38063338-38065476	Hela-S3	cervix:	n/a	chr14:38064741-38064751
18	MAX	chr14:38064060-38065804	A549	lung:	n/a	chr14:38064741-38064751
19	RCOR1	chr14:38063421-38066027	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:38064038-38064365	H1-neurons	neurons:	n/a	n/a
21	MYC	chr14:38064105-38064558	MCF10A-Er-Src	breast:	n/a	n/a
22	HA-E2F1	chr14:38063407-38065989	MCF-7	breast:	n/a	chr14:38065392-38065404 chr14:38065519-38065531 chr14:38065518-38065533 chr14:38064782-38064792
23	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
24	POLR2A	chr14:38063831-38064860	HEK293	kidney:	n/a	n/a
25	NR2F2	chr14:38063222-38066101	MCF-7	breast:	n/a	n/a
26	YY1	chr14:38063590-38065810	HepG2	liver:	n/a	chr14:38064841-38064855
27	ZNF143	chr14:38064148-38064576	H1-hESC	embryonic stem cell:	n/a	chr14:38064553-38064571
28	SIN3AK20	chr14:38060259-38066080	MCF-7	breast:	n/a	n/a
29	MAX	chr14:38063265-38066034	HepG2	liver:	n/a	chr14:38064741-38064751
30	FOXA2	chr14:38064342-38065650	HepG2	liver:	n/a	n/a
31	TCF7L2	chr14:38063472-38064653	HCT-116	colon:	n/a	n/a
32	GATA3	chr14:38064013-38066440	MCF-7	breast:	n/a	chr14:38066429-38066436
33	CTBP2	chr14:38063545-38065794	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr14:38063967-38065075	ECC-1	luminal epithelium:	n/a	chr14:38064741-38064751
35	MXI1	chr14:38064150-38064373	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:38064137-38065676	A549	lung:	n/a	n/a
37	TAF1	chr14:38063642-38064723	HepG2	liver:	n/a	n/a
38	POLR2A	chr14:38064079-38064995	ECC-1	luminal epithelium:	n/a	n/a
39	TBP	chr14:38064073-38065842	K562	blood:	n/a	n/a
40	HA-E2F1	chr14:38063650-38065586	Hela-S3	cervix:	n/a	chr14:38065392-38065404 chr14:38065519-38065531 chr14:38065518-38065533 chr14:38064782-38064792
41	POLR2A	chr14:38063785-38065819	HepG2	liver:	n/a	n/a
42	GATA3	chr14:38063996-38065914	T-47D	breast:	n/a	n/a
43	GATA3	chr14:38063361-38065823	MCF-7	breast:	n/a	n/a
44	ZNF263	chr14:38062768-38066049	HEK293-T-REx	kidney:	n/a	chr14:38065390-38065399 chr14:38064974-38064983
45	SIN3AK20	chr14:38063985-38065743	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:38064339-38065913	HepG2	liver:	n/a	n/a
47	TBP	chr14:38064149-38064615	Hela-S3	cervix:	n/a	n/a
48	MAX	chr14:38064007-38066194	MCF-7	breast:	n/a	chr14:38064741-38064751
49	MAX	chr14:38063390-38065930	HepG2	liver:	n/a	chr14:38064741-38064751
50	POLR2A	chr14:38064149-38065862	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:38064014..38064548-chr15:90645261..90646074,2	MCF-7	breast:
2	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:
3	chr14:38064152..38064718-chr3:172468271..172468926,2	Hela-S3	cervix:
4	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
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	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
17	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
18	chr14:38063458..38065003-chr17:45607681..45609442,2	MCF-7	breast:
19	chr14:37641087..37642667-chr14:38063502..38066629,3	MCF-7	breast:

Variant related genes	Relation type
TTC6	TF binding region
FOXA1	TF binding region
ENSG00000135480	Chromatin interaction
ENSG00000111679	Chromatin interaction
ENSG00000114346	Chromatin interaction
ENSG00000124207	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000259685	Chromatin interaction
ENSG00000182054	Chromatin interaction
ENSG00000207046	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000183032	Chromatin interaction
ENSG00000176842	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000245694	Chromatin interaction
ENSG00000259087	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000227431	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000112787	Chromatin interaction
ENSG00000267280	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:98 , 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	chr14:38061800-38064600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr14:38062400-38064400	Active TSS	Small Intestine	intestine
7	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
9	chr14:38062800-38065600	Active TSS	K562	blood
10	chr14:38063000-38065600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:38063200-38065200	Active TSS	Duodenum Mucosa	Duodenum
12	chr14:38063200-38065400	Active TSS	Hela-S3	cervix
13	chr14:38063200-38065600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:38063400-38064400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:38063400-38064600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:38063400-38064600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:38063400-38064600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:38063400-38064600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
19	chr14:38063400-38064600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:38063400-38064600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:38063400-38064600	Active TSS	HSMMtube	muscle
22	chr14:38063400-38064800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:38063400-38064800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:38063400-38064800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:38063400-38064800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:38063400-38065000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:38063400-38065000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:38063400-38065200	Active TSS	Right Atrium	heart
29	chr14:38063400-38065400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr14:38063400-38065400	Active TSS	Right Ventricle	heart
31	chr14:38063400-38065600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:38063400-38065800	Active TSS	Gastric	stomach
33	chr14:38063600-38064400	Active TSS	Osteobl	bone
34	chr14:38063600-38064600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:38063600-38064600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:38063600-38064600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:38063600-38064600	Active TSS	Aorta	Aorta
38	chr14:38063600-38064600	Bivalent/Poised TSS	Fetal Kidney	kidney
39	chr14:38063600-38064800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr14:38063600-38064800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:38063600-38064800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:38063600-38064800	Active TSS	Ovary	ovary
43	chr14:38063600-38064800	Bivalent/Poised TSS	Thymus	Thymus
44	chr14:38063600-38064800	Active TSS	NHLF	lung
45	chr14:38063600-38065000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:38063600-38065000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr14:38063600-38065000	Active TSS	HSMM	muscle
48	chr14:38063600-38065200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:38063600-38065200	Active TSS	HMEC	breast
50	chr14:38063600-38065200	Active TSS	NHEK	skin

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