Variant report

Variant	rs551223945
Chromosome Location	chr14:32546022-32546023
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	REST	chr14:32544935-32546115	A549	lung:	n/a	n/a
2	POLR2A	chr14:32544959-32546167	PBDE	blood:	n/a	n/a
3	POLR2A	chr14:32545290-32546536	HUVEC	blood vessel:	n/a	n/a
4	NFYB	chr14:32545665-32546038	GM12878	blood:	n/a	chr14:32545927-32545942
5	NFIC	chr14:32544829-32546369	HepG2	liver:	n/a	n/a
6	TAF7	chr14:32545211-32546416	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:32545351-32547512	Raji	blood:	n/a	n/a
8	NRF1	chr14:32544681-32546383	SK-N-SH	brain:	n/a	chr14:32546163-32546174 chr14:32546191-32546202 chr14:32546004-32546013
9	POLR2A	chr14:32545459-32546632	HUVEC	blood vessel:	n/a	n/a
10	YY1	chr14:32545328-32546528	ECC-1	luminal epithelium:	n/a	chr14:32545492-32545506 chr14:32546313-32546323 chr14:32546232-32546246
11	HMGN3	chr14:32545867-32547116	K562	blood:	n/a	n/a
12	ELK1	chr14:32545541-32546037	GM12878	blood:	n/a	n/a
13	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
14	POLR2A	chr14:32545141-32547177	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr14:32545185-32546607	GM12878	blood:	n/a	n/a
16	MYC	chr14:32545129-32546385	K562	blood:	n/a	chr14:32546018-32546028
17	NRF1	chr14:32546005-32546348	GM12878	blood:	n/a	chr14:32546163-32546174 chr14:32546191-32546202
18	POLR2A	chr14:32545261-32546788	HCT-116	colon:	n/a	n/a
19	GTF2F1	chr14:32545650-32546308	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:32545159-32547496	GM19193	blood:	n/a	n/a
21	YY1	chr14:32545314-32546034	ECC-1	luminal epithelium:	n/a	chr14:32545492-32545506
22	REST	chr14:32545438-32546080	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr14:32545240-32547079	K562	blood:	n/a	n/a
24	ELK1	chr14:32545206-32546369	Hela-S3	cervix:	n/a	n/a
25	E2F6	chr14:32545302-32547094	K562	blood:	n/a	chr14:32546544-32546554 chr14:32546966-32546975 chr14:32546940-32546950 chr14:32545951-32545962 chr14:32546547-32546557
26	TBL1XR1	chr14:32545714-32546097	GM12878	blood:	n/a	n/a
27	FOXP2	chr14:32545919-32546380	PFSK-1	brain:	n/a	n/a
28	CTBP2	chr14:32545260-32546164	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr14:32545423-32547516	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:32545316-32546858	ProgFib	skin:	n/a	n/a
31	ZNF384	chr14:32545660-32546167	K562	blood:	n/a	n/a
32	TBP	chr14:32545328-32546730	K562	blood:	n/a	n/a
33	ELF1	chr14:32545599-32546270	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:32545330-32546922	MCF-7	breast:	n/a	n/a
35	POLR2A	chr14:32545255-32546843	A549	lung:	n/a	n/a
36	TAF1	chr14:32545232-32546145	SK-N-SH	brain:	n/a	n/a
37	NFYB	chr14:32545613-32546069	Hela-S3	cervix:	n/a	chr14:32545927-32545942
38	BACH1	chr14:32544987-32546243	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr14:32545516-32546185	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr14:32545274-32546489	ECC-1	luminal epithelium:	n/a	chr14:32546018-32546028 chr14:32546461-32546471
41	MAX	chr14:32545041-32546687	SK-N-SH	brain:	n/a	chr14:32546018-32546028 chr14:32546461-32546471
42	GATA3	chr14:32545390-32546408	T-47D	breast:	n/a	n/a
43	POLR2A	chr14:32545352-32547117	HEK293	kidney:	n/a	n/a
44	UBTF	chr14:32545245-32547688	K562	blood:	n/a	n/a
45	HA-E2F1	chr14:32545130-32546701	MCF-7	breast:	n/a	chr14:32546544-32546554 chr14:32546547-32546557 chr14:32546038-32546049
46	POLR2A	chr14:32544903-32547703	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr14:32545271-32547661	HepG2	liver:	n/a	n/a
48	POLR2A	chr14:32545041-32547553	IMR90	lung:	n/a	n/a
49	MYC	chr14:32545224-32546769	MCF-7	breast:	n/a	chr14:32546018-32546028 chr14:32546461-32546471
50	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

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	TF binding region
ARHGAP5-AS1	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	chr14:32543400-32546600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:32543400-32549200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr14:32543600-32549000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:32543600-32550600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:32543800-32549800	Active TSS	HMEC	breast
6	chr14:32544000-32546600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:32544000-32548000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:32544000-32548600	Active TSS	A549	lung
9	chr14:32544000-32549200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:32544200-32547600	Active TSS	Brain Anterior Caudate	brain
11	chr14:32544200-32547800	Active TSS	Brain Hippocampus Middle	brain
12	chr14:32544200-32548200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:32544200-32548400	Active TSS	Left Ventricle	heart
14	chr14:32544200-32548600	Active TSS	Ovary	ovary
15	chr14:32544200-32548600	Active TSS	Right Ventricle	heart
16	chr14:32544200-32548800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr14:32544200-32548800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr14:32544200-32549000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:32544200-32549200	Active TSS	Psoas Muscle	Psoas
20	chr14:32544200-32550000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:32544400-32547800	Active TSS	Brain Substantia Nigra	brain
22	chr14:32544400-32548200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:32544400-32548400	Active TSS	Colonic Mucosa	Colon
24	chr14:32544400-32548600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr14:32544400-32549000	Active TSS	Aorta	Aorta
26	chr14:32544400-32549200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:32544400-32549200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:32544600-32546600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:32544600-32546800	Active TSS	Fetal Brain Female	brain
30	chr14:32544600-32547600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr14:32544600-32547800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:32544600-32547800	Active TSS	Hela-S3	cervix
33	chr14:32544600-32548000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:32544600-32548200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:32544600-32548200	Active TSS	Colon Smooth Muscle	Colon
36	chr14:32544600-32548200	Active TSS	NHDF-Ad	bronchial
37	chr14:32544600-32548400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:32544600-32548400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr14:32544600-32548400	Active TSS	Fetal Intestine Small	intestine
40	chr14:32544600-32548600	Active TSS	NHEK	skin
41	chr14:32544600-32548800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:32544600-32548800	Active TSS	Brain Angular Gyrus	brain
43	chr14:32544600-32548800	Active TSS	NHLF	lung
44	chr14:32544600-32549000	Active TSS	Stomach Smooth Muscle	stomach
45	chr14:32544800-32547800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr14:32544800-32548000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:32544800-32548000	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr14:32544800-32548000	Active TSS	Esophagus	oesophagus
49	chr14:32544800-32548000	Active TSS	Fetal Muscle Trunk	muscle
50	chr14:32544800-32548200	Active TSS	HUES64 Cell Line	embryonic stem cell

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