Variant report

Variant	rs192963558
Chromosome Location	chr14:32546799-32546800
allele	C/G
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	chr14:32545351-32547512	Raji	blood:	n/a	n/a
2	CTCF	chr14:32546571-32546835	IMR90	lung:	n/a	chr14:32546677-32546690
3	POLR2A	chr14:32546654-32546917	K562	blood:	n/a	n/a
4	CTCF	chr14:32546680-32546830	HVMF	connective:	n/a	n/a
5	HEY1	chr14:32546437-32546929	K562	blood:	n/a	chr14:32546754-32546769 chr14:32546541-32546556 chr14:32546765-32546780 chr14:32546550-32546565
6	HMGN3	chr14:32545867-32547116	K562	blood:	n/a	n/a
7	YY1	chr14:32545270-32546932	SK-N-SH	brain:	n/a	chr14:32546540-32546554 chr14:32546810-32546824 chr14:32546546-32546555 chr14:32546768-32546779 chr14:32546807-32546821 chr14:32545492-32545506 chr14:32546764-32546775 chr14:32546313-32546323 chr14:32546543-32546552 chr14:32546546-32546560 chr14:32546764-32546773 chr14:32546544-32546555 chr14:32546232-32546246 chr14:32546543-32546557
8	POLR2A	chr14:32545141-32547177	H1-neurons	neurons:	n/a	n/a
9	MAX	chr14:32546552-32547122	H1-hESC	embryonic stem cell:	n/a	chr14:32546967-32546977 chr14:32546864-32546874
10	FOSL1	chr14:32546601-32546841	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:32545159-32547496	GM19193	blood:	n/a	n/a
12	ZNF143	chr14:32546531-32547245	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:32545240-32547079	K562	blood:	n/a	n/a
14	E2F6	chr14:32545302-32547094	K562	blood:	n/a	chr14:32546544-32546554 chr14:32546966-32546975 chr14:32546940-32546950 chr14:32545951-32545962 chr14:32546547-32546557
15	POLR2A	chr14:32545423-32547516	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:32545316-32546858	ProgFib	skin:	n/a	n/a
17	POLR2A	chr14:32545330-32546922	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:32545255-32546843	A549	lung:	n/a	n/a
19	MAX	chr14:32546560-32546835	K562	blood:	n/a	n/a
20	CTCF	chr14:32546417-32546872	K562	blood:	n/a	chr14:32546677-32546690
21	POLR2A	chr14:32545352-32547117	HEK293	kidney:	n/a	n/a
22	UBTF	chr14:32545245-32547688	K562	blood:	n/a	n/a
23	SP1	chr14:32546491-32546891	H1-hESC	embryonic stem cell:	n/a	chr14:32546869-32546881 chr14:32546870-32546879 chr14:32546869-32546881
24	POLR2A	chr14:32544903-32547703	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:32545271-32547661	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:32545041-32547553	IMR90	lung:	n/a	n/a
27	TEAD4	chr14:32546376-32546915	ECC-1	luminal epithelium:	n/a	n/a
28	YY1	chr14:32544981-32546917	SK-N-SH	brain:	n/a	chr14:32546540-32546554 chr14:32546810-32546824 chr14:32546546-32546555 chr14:32546768-32546779 chr14:32546807-32546821 chr14:32545492-32545506 chr14:32546764-32546775 chr14:32546313-32546323 chr14:32546543-32546552 chr14:32546546-32546560 chr14:32546764-32546773 chr14:32546544-32546555 chr14:32546232-32546246 chr14:32546543-32546557
29	POLR2A	chr14:32545187-32546866	A549	lung:	n/a	n/a
30	YY1	chr14:32545694-32546854	H1-hESC	embryonic stem cell:	n/a	chr14:32546540-32546554 chr14:32546810-32546824 chr14:32546546-32546555 chr14:32546768-32546779 chr14:32546807-32546821 chr14:32546764-32546775 chr14:32546313-32546323 chr14:32546543-32546552 chr14:32546546-32546560 chr14:32546764-32546773 chr14:32546544-32546555 chr14:32546232-32546246 chr14:32546543-32546557
31	MAX	chr14:32544978-32547567	Hela-S3	cervix:	n/a	chr14:32546967-32546977 chr14:32546864-32546874 chr14:32546018-32546028 chr14:32546461-32546471
32	RCOR1	chr14:32546752-32547634	K562	blood:	n/a	n/a
33	MXI1	chr14:32545262-32547923	HepG2	liver:	n/a	n/a
34	CTCF	chr14:32546660-32546810	GM12872	blood:	n/a	chr14:32546677-32546690
35	POLR2A	chr14:32545332-32546840	HepG2	liver:	n/a	n/a
36	CHD2	chr14:32546647-32547575	GM12878	blood:	n/a	n/a
37	TAF1	chr14:32545185-32547215	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr14:32545297-32547147	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr14:32546132-32547167	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr14:32545294-32546990	K562	blood:	n/a	chr14:32546967-32546977 chr14:32546864-32546874 chr14:32546018-32546028 chr14:32546461-32546471
41	POLR2A	chr14:32545959-32546827	GM12892	blood:	n/a	n/a
42	POLR2A	chr14:32545239-32547065	A549	lung:	n/a	n/a
43	BRCA1	chr14:32546635-32547009	HepG2	liver:	n/a	n/a
44	MYBL2	chr14:32544793-32548649	HepG2	liver:	n/a	n/a
45	RCOR1	chr14:32546742-32546810	Hela-S3	cervix:	n/a	n/a
46	MTA3	chr14:32546778-32547451	GM12878	blood:	n/a	n/a
47	YY1	chr14:32545127-32547636	HepG2	liver:	n/a	chr14:32546540-32546554 chr14:32546810-32546824 chr14:32546546-32546555 chr14:32546768-32546779 chr14:32546807-32546821 chr14:32545492-32545506 chr14:32546764-32546775 chr14:32546313-32546323 chr14:32546543-32546552 chr14:32546966-32546975 chr14:32546546-32546560 chr14:32546963-32546974 chr14:32547364-32547375 chr14:32546764-32546773 chr14:32546544-32546555 chr14:32546232-32546246 chr14:32546940-32546954 chr14:32546543-32546557
48	CTCF	chr14:32546660-32546810	HAc	cerebellar:	n/a	chr14:32546677-32546690
49	YY1	chr14:32546097-32546855	K562	blood:	n/a	chr14:32546540-32546554 chr14:32546810-32546824 chr14:32546546-32546555 chr14:32546768-32546779 chr14:32546807-32546821 chr14:32546764-32546775 chr14:32546313-32546323 chr14:32546543-32546552 chr14:32546546-32546560 chr14:32546764-32546773 chr14:32546544-32546555 chr14:32546232-32546246 chr14:32546543-32546557
50	POLR2A	chr14:32545228-32547097	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
2	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
3	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:
4	chr14:32545768..32548128-chr14:32672317..32675290,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP5-AS1	TF binding region
ARHGAP5	TF binding region
ENSG00000201654	Chromatin interaction
ENSG00000202337	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3359965	chr14:32545226-32548074	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr14:32543400-32549200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr14:32543600-32549000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:32543600-32550600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:32543800-32549800	Active TSS	HMEC	breast
5	chr14:32544000-32548000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:32544000-32548600	Active TSS	A549	lung
7	chr14:32544000-32549200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:32544200-32547600	Active TSS	Brain Anterior Caudate	brain
9	chr14:32544200-32547800	Active TSS	Brain Hippocampus Middle	brain
10	chr14:32544200-32548200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:32544200-32548400	Active TSS	Left Ventricle	heart
12	chr14:32544200-32548600	Active TSS	Ovary	ovary
13	chr14:32544200-32548600	Active TSS	Right Ventricle	heart
14	chr14:32544200-32548800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr14:32544200-32548800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:32544200-32549000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:32544200-32549200	Active TSS	Psoas Muscle	Psoas
18	chr14:32544200-32550000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:32544400-32547800	Active TSS	Brain Substantia Nigra	brain
20	chr14:32544400-32548200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr14:32544400-32548400	Active TSS	Colonic Mucosa	Colon
22	chr14:32544400-32548600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr14:32544400-32549000	Active TSS	Aorta	Aorta
24	chr14:32544400-32549200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:32544400-32549200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:32544600-32546800	Active TSS	Fetal Brain Female	brain
27	chr14:32544600-32547600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:32544600-32547800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:32544600-32547800	Active TSS	Hela-S3	cervix
30	chr14:32544600-32548000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr14:32544600-32548200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:32544600-32548200	Active TSS	Colon Smooth Muscle	Colon
33	chr14:32544600-32548200	Active TSS	NHDF-Ad	bronchial
34	chr14:32544600-32548400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:32544600-32548400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr14:32544600-32548400	Active TSS	Fetal Intestine Small	intestine
37	chr14:32544600-32548600	Active TSS	NHEK	skin
38	chr14:32544600-32548800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:32544600-32548800	Active TSS	Brain Angular Gyrus	brain
40	chr14:32544600-32548800	Active TSS	NHLF	lung
41	chr14:32544600-32549000	Active TSS	Stomach Smooth Muscle	stomach
42	chr14:32544800-32547800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr14:32544800-32548000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr14:32544800-32548000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr14:32544800-32548000	Active TSS	Esophagus	oesophagus
46	chr14:32544800-32548000	Active TSS	Fetal Muscle Trunk	muscle
47	chr14:32544800-32548200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr14:32544800-32548200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr14:32544800-32548200	Active TSS	Fetal Kidney	kidney
50	chr14:32544800-32548400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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