Variant report

Variant	rs375788167
Chromosome Location	chr14:55369228-55369229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr14:55368972-55370036	K562	blood:	n/a	n/a
2	YY1	chr14:55368649-55370176	HepG2	liver:	n/a	chr14:55368997-55369006 chr14:55368995-55369009 chr14:55368994-55369003 chr14:55368994-55369005
3	MAX	chr14:55368718-55370023	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:55369169-55369653	HUVEC	blood vessel:	n/a	n/a
5	YY1	chr14:55368764-55369229	ECC-1	luminal epithelium:	n/a	chr14:55368997-55369006 chr14:55368995-55369009 chr14:55368994-55369003 chr14:55368994-55369005
6	BHLHE40	chr14:55368855-55369669	GM12878	blood:	n/a	chr14:55368993-55369009
7	POLR2A	chr14:55368696-55369898	GM10847	blood:	n/a	n/a
8	CREB1	chr14:55368629-55370149	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:55368542-55369931	GM12892	blood:	n/a	n/a
10	MYC	chr14:55368819-55369317	MCF-7	breast:	n/a	n/a
11	MAX	chr14:55368526-55370167	Hela-S3	cervix:	n/a	n/a
12	GATA3	chr14:55368282-55370167	MCF-7	breast:	n/a	n/a
13	ELF1	chr14:55368402-55370087	GM12878	blood:	n/a	chr14:55369656-55369668
14	ZKSCAN1	chr14:55368614-55370022	Hela-S3	cervix:	n/a	n/a
15	ELF1	chr14:55368363-55369283	MCF-7	breast:	n/a	n/a
16	PML	chr14:55368587-55369873	MCF-7	breast:	n/a	n/a
17	CHD1	chr14:55369093-55369240	H1-hESC	embryonic stem cell:	n/a	n/a
18	RCOR1	chr14:55368602-55370024	Hela-S3	cervix:	n/a	n/a
19	NFIC	chr14:55368656-55369741	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr14:55369100-55369250	HMEC	breast:	n/a	n/a
21	TBP	chr14:55368639-55370148	K562	blood:	n/a	n/a
22	POLR2A	chr14:55368645-55369828	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr14:55368449-55369249	SK-N-SH	brain:	n/a	n/a
24	E2F1	chr14:55368551-55369983	Hela-S3	cervix:	n/a	chr14:55368932-55368940 chr14:55369556-55369565 chr14:55368997-55369006 chr14:55369654-55369666 chr14:55368783-55368795 chr14:55368933-55368940 chr14:55368884-55368895 chr14:55369613-55369623
25	BCLAF1	chr14:55368645-55369241	GM12878	blood:	n/a	chr14:55368916-55368924 chr14:55368996-55369005 chr14:55368993-55369006
26	POLR2A	chr14:55368707-55370002	HepG2	liver:	n/a	n/a
27	MYC	chr14:55368716-55370077	K562	blood:	n/a	n/a
28	POLR2A	chr14:55368697-55369893	SK-N-MC	brain:	n/a	n/a
29	GABPA	chr14:55368663-55369247	K562	blood:	n/a	chr14:55369000-55369009
30	MAX	chr14:55368459-55370154	ECC-1	luminal epithelium:	n/a	n/a
31	MAFK	chr14:55368931-55370066	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr14:55369154-55369770	HUVEC	blood vessel:	n/a	n/a
33	TCF7L2	chr14:55368818-55370215	HCT-116	colon:	n/a	chr14:55370156-55370166
34	HDAC2	chr14:55368733-55370089	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:55368734-55370227	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:55368349-55369728	Hela-S3	cervix:	n/a	n/a
37	PML	chr14:55368680-55370145	MCF-7	breast:	n/a	n/a
38	EBF1	chr14:55368512-55369272	GM12878	blood:	n/a	n/a
39	TFAP2C	chr14:55368557-55370125	Hela-S3	cervix:	n/a	n/a
40	MAZ	chr14:55368599-55370174	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr14:55368695-55369572	PANC-1	pancreas:	n/a	n/a
42	MAZ	chr14:55368817-55370043	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:55369158-55369773	GM12892	blood:	n/a	n/a
44	NR2F2	chr14:55368519-55370351	MCF-7	breast:	n/a	n/a
45	POLR2A	chr14:55368589-55369787	HCT-116	colon:	n/a	n/a
46	TCF3	chr14:55368710-55369685	GM12878	blood:	n/a	n/a
47	TAF1	chr14:55368664-55369997	HepG2	liver:	n/a	n/a
48	TAF1	chr14:55368807-55369688	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:55369132-55369797	ECC-1	luminal epithelium:	n/a	n/a
50	ELF1	chr14:55368360-55370452	MCF-7	breast:	n/a	chr14:55369656-55369668

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55369212-55369262	HCT-116	colon:	n/a
2	chr14:55369212-55369262	CMK	blood:	n/a
3	chr14:55369212-55369262	GM12891	blood:	n/a
4	chr14:55369212-55369262	K562	blood:	n/a
5	chr14:55369212-55369262	AoSMC	blood vessel:	n/a
6	chr14:55369212-55369262	GM06990	blood:	n/a
7	chr14:55369212-55369262	RPTEC	kidney:	n/a
8	chr14:55369212-55369262	HRE	kidney:	n/a
9	chr14:55369212-55369262	SKMC	muscle:	n/a
10	chr14:55369212-55369262	AG09309	skin:	n/a
11	chr14:55369212-55369262	H1-hESC	embryonic stem cell:	embryo
12	chr14:55369212-55369262	SAEC	small airway:	n/a
13	chr14:55369212-55369262	PrEC	prostate:	n/a
14	chr14:55369212-55369262	T-47D	breast:	n/a
15	chr14:55369212-55369262	NHDF-neo	bronchial:	n/a
16	chr14:55369212-55369262	SK-N-SH	brain:	n/a
17	chr14:55369212-55369262	HL-60	blood:	n/a
18	chr14:55369212-55369262	GM12878	blood:	n/a
19	chr14:55369212-55369262	MCF10A-Er-Src	breast:	n/a
20	chr14:55369212-55369262	AG10803	skin:	n/a
21	chr14:55369212-55369262	HRCEpiC	kidney:	n/a
22	chr14:55369212-55369262	BJ	skin:	n/a
23	chr14:55369212-55369262	U87	brain:	n/a
24	chr14:55369212-55369262	GM19239	blood:	n/a
25	chr14:55369212-55369262	HUVEC	blood vessel:	n/a
26	chr14:55369212-55369262	A549	lung:	n/a
27	chr14:55369212-55369262	Jurkat	blood:	n/a
28	chr14:55369212-55369262	ECC-1	luminal epithelium:	n/a
29	chr14:55369212-55369262	ProgFib	skin:	n/a
30	chr14:55369212-55369262	HEEpiC	esophagus:	n/a
31	chr14:55369212-55369262	SK-N-SH_RA	brain:	n/a
32	chr14:55369212-55369262	NT2-D1	testis:	n/a
33	chr14:55369212-55369262	GM12892	blood:	n/a
34	chr14:55369212-55369262	HCF	heart:	n/a
35	chr14:55369212-55369262	Caco-2	colon:	n/a
36	chr14:55369212-55369262	HCM	heart:	n/a
37	chr14:55369212-55369262	HMEC	breast:	n/a
38	chr14:55369212-55369262	MCF-7	breast:	n/a
39	chr14:55369212-55369262	SK-N-MC	brain:	n/a
40	chr14:55369212-55369262	LNCaP	prostate:	n/a
41	chr14:55369212-55369262	PANC-1	pancreas:	n/a
42	chr14:55369212-55369262	HepG2	liver:	n/a
43	chr14:55369212-55369262	NHBE	bronchial:	n/a
44	chr14:55369212-55369262	Hepatocyte	liver:	n/a
45	chr14:55369212-55369262	HEK293	kidney:	embryo
46	chr14:55369212-55369262	PFSK-1	brain:	n/a
47	chr14:55369212-55369262	NB4	blood:	n/a
48	chr14:55369212-55369262	HIPEpiC	eye:	n/a
49	chr14:55369212-55369262	AG04450	lung:	fetal
50	chr14:55369212-55369262	AG09319	gingival:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368060..55369582-chr14:55493883..55496744,2	MCF-7	breast:
2	chr14:55368751..55370631-chr14:55518308..55520538,2	K562	blood:
3	chr14:55368974..55369574-chr6:27100348..27100871,2	Hela-S3	cervix:
4	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
5	chr14:55030801..55036234-chr14:55366700..55372024,9	MCF-7	breast:
6	chr14:55343213..55346860-chr14:55368496..55370471,3	MCF-7	breast:
7	chr14:55247890..55252413-chr14:55368163..55370491,5	MCF-7	breast:
8	chr14:55351951..55354870-chr14:55368126..55370512,5	MCF-7	breast:
9	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:
10	chr14:55369172..55369944-chr19:35264069..35264965,2	HCT-116	colon:
11	chr14:55032369..55034172-chr14:55367637..55369968,2	K562	blood:
12	chr14:55368105..55371463-chr14:55516987..55520396,7	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAMD4A-3	chr14:55369024-55370518	NONHSAT036977

No data

Variant related genes	Relation type
GCH1	TF binding region
GCH1	CpG island
ENSG00000020577	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000153896	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000258872	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000265432	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
4	esv3345259	chr14:55368427-55370975	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55367000-55370200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:55367200-55369800	Active TSS	Liver	Liver
3	chr14:55367400-55369800	Active TSS	GM12878-XiMat	blood
4	chr14:55367600-55369400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr14:55367600-55369400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:55367600-55369400	Flanking Active TSS	Osteobl	bone
7	chr14:55367600-55369600	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr14:55367600-55370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr14:55367600-55370200	Active TSS	Primary T cells from cord blood	blood
10	chr14:55367600-55370200	Active TSS	Right Atrium	heart
11	chr14:55367800-55370000	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr14:55367800-55370000	Active TSS	Fetal Kidney	kidney
13	chr14:55367800-55370200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:55367800-55370200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr14:55367800-55370200	Active TSS	Colonic Mucosa	Colon
16	chr14:55367800-55370200	Active TSS	Psoas Muscle	Psoas
17	chr14:55367800-55370200	Active TSS	Rectal Smooth Muscle	rectum
18	chr14:55367800-55370200	Active TSS	Right Ventricle	heart
19	chr14:55368000-55369400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:55368000-55369800	Active TSS	Spleen	Spleen
21	chr14:55368000-55370000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:55368000-55370000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:55368000-55370000	Active TSS	Esophagus	oesophagus
24	chr14:55368000-55370000	Active TSS	Left Ventricle	heart
25	chr14:55368000-55370000	Active TSS	Lung	lung
26	chr14:55368000-55370000	Active TSS	Small Intestine	intestine
27	chr14:55368000-55370200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:55368000-55370200	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr14:55368000-55370200	Active TSS	HSMMtube	muscle
30	chr14:55368200-55369800	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr14:55368200-55369800	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr14:55368200-55369800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr14:55368200-55369800	Active TSS	Brain Angular Gyrus	brain
34	chr14:55368200-55369800	Active TSS	NHEK	skin
35	chr14:55368200-55369800	Active TSS	NHLF	lung
36	chr14:55368200-55370000	Active TSS	Aorta	Aorta
37	chr14:55368200-55370000	Active TSS	Brain Anterior Caudate	brain
38	chr14:55368200-55370000	Active TSS	Gastric	stomach
39	chr14:55368200-55370000	Active TSS	Ovary	ovary
40	chr14:55368200-55370000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr14:55368200-55370000	Active TSS	Stomach Mucosa	stomach
42	chr14:55368200-55370200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:55368200-55370200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:55368200-55370200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:55368200-55370200	Active TSS	Duodenum Mucosa	Duodenum
46	chr14:55368200-55370200	Active TSS	Fetal Lung	lung
47	chr14:55368200-55370200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr14:55368200-55370200	Active TSS	Hela-S3	cervix
49	chr14:55368200-55370200	Active TSS	HSMM	muscle
50	chr14:55368200-55370400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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