Variant report

Variant	rs555347893
Chromosome Location	chr1:151965771-151965772
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	JUND	chr1:151964679-151967014	A549	lung:	n/a	chr1:151965116-151965124 chr1:151964989-151964998 chr1:151965114-151965126
2	SP1	chr1:151964375-151967094	HCT-116	colon:	n/a	chr1:151966108-151966117 chr1:151965093-151965103 chr1:151965093-151965103 chr1:151964597-151964611 chr1:151966145-151966158
3	ELK4	chr1:151964375-151965959	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:151964626-151967011	A549	lung:	n/a	n/a
5	E2F6	chr1:151965476-151966129	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr1:151965503-151967022	ECC-1	luminal epithelium:	n/a	chr1:151965986-151965995
7	POLR2A	chr1:151964557-151966771	PFSK-1	brain:	n/a	n/a
8	ETS1	chr1:151964179-151965818	A549	lung:	n/a	chr1:151964993-151965006 chr1:151964997-151965004 chr1:151964993-151965004 chr1:151964991-151965005
9	TCF12	chr1:151963929-151968128	A549	lung:	n/a	chr1:151964984-151964991
10	JUND	chr1:151964469-151967138	MCF-7	breast:	n/a	chr1:151965116-151965124 chr1:151964989-151964998 chr1:151965114-151965126
11	TAF1	chr1:151964652-151965947	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:151960317-151966352	A549	lung:	n/a	n/a
13	SIN3A	chr1:151964706-151965925	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr1:151964602-151965896	A549	lung:	n/a	n/a
15	POLR2A	chr1:151964643-151966990	A549	lung:	n/a	n/a
16	POLR2A	chr1:151964654-151966522	HUVEC	blood vessel:	n/a	n/a
17	TAF1	chr1:151964138-151966844	A549	lung:	n/a	n/a
18	ZKSCAN1	chr1:151964686-151966857	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:151964030-151967233	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:151964780-151966620	ProgFib	skin:	n/a	n/a
21	GATA3	chr1:151964354-151967404	MCF-7	breast:	n/a	chr1:151964995-151965005 chr1:151966769-151966776 chr1:151966893-151966901 chr1:151964477-151964493 chr1:151964482-151964489 chr1:151964988-151964997 chr1:151964482-151964489 chr1:151964482-151964489
22	TAF1	chr1:151964662-151965824	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:151964053-151966959	ECC-1	luminal epithelium:	n/a	n/a
24	ELF1	chr1:151964192-151967139	MCF-7	breast:	n/a	n/a
25	HDAC2	chr1:151964642-151966027	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:151964752-151966939	A549	lung:	n/a	n/a
27	POLR2A	chr1:151965488-151966409	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr1:151964723-151966899	ECC-1	luminal epithelium:	n/a	n/a
29	TEAD4	chr1:151963975-151967080	ECC-1	luminal epithelium:	n/a	n/a
30	NFIC	chr1:151964092-151965931	SK-N-SH	brain:	n/a	n/a
31	CHD1	chr1:151963720-151967191	IMR90	lung:	n/a	n/a
32	POLR2A	chr1:151965642-151965976	H1-hESC	embryonic stem cell:	n/a	n/a
33	GATA3	chr1:151964047-151967118	A549	lung:	n/a	chr1:151964995-151965005 chr1:151966769-151966776 chr1:151966893-151966901 chr1:151964286-151964297 chr1:151964477-151964493 chr1:151964482-151964489 chr1:151964988-151964997 chr1:151964482-151964489 chr1:151964482-151964489
34	CEBPB	chr1:151964483-151965861	HCT-116	colon:	n/a	chr1:151964670-151964683
35	POLR2A	chr1:151960197-151968028	U87	brain:	n/a	n/a
36	POLR2A	chr1:151963122-151967069	PANC-1	pancreas:	n/a	n/a
37	ELF1	chr1:151964710-151965979	A549	lung:	n/a	n/a
38	TCF12	chr1:151964665-151967078	ECC-1	luminal epithelium:	n/a	chr1:151964984-151964991
39	ZNF143	chr1:151965720-151965816	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr1:151964772-151965930	H1-hESC	embryonic stem cell:	n/a	n/a
41	GABPA	chr1:151964182-151967200	MCF-7	breast:	n/a	chr1:151966653-151966667
42	BACH1	chr1:151964643-151966253	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:151964804-151966539	A549	lung:	n/a	n/a
44	TCF12	chr1:151964570-151966045	A549	lung:	n/a	chr1:151964984-151964991
45	GATA3	chr1:151964212-151967251	MCF-7	breast:	n/a	chr1:151964995-151965005 chr1:151966769-151966776 chr1:151966893-151966901 chr1:151964286-151964297 chr1:151964477-151964493 chr1:151964482-151964489 chr1:151964988-151964997 chr1:151964482-151964489 chr1:151964482-151964489
46	POLR2A	chr1:151964734-151966786	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:151964571-151965984	HCT-116	colon:	n/a	n/a
48	POLR2A	chr1:151965561-151966049	H1-neurons	neurons:	n/a	n/a
49	BRCA1	chr1:151964430-151965989	Hela-S3	cervix:	n/a	n/a
50	EP300	chr1:151965686-151965840	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151964912..151965810-chr15:69706653..69707573,2	Hela-S3	cervix:
2	chr1:151803084..151806304-chr1:151962981..151966430,4	MCF-7	breast:
3	chr1:151965623..151966165-chr5:134181401..134182191,2	Hela-S3	cervix:
4	chr1:151965635..151966208-chr11:73693736..73694557,2	Hela-S3	cervix:
5	chr1:151963482..151966258-chr15:83734054..83736010,2	MCF-7	breast:
6	chr1:151963744..151966244-chr17:56707937..56710404,2	MCF-7	breast:
7	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:
8	chr1:151965121..151965813-chr6:10694247..10695096,2	Hela-S3	cervix:
9	chr1:110527017..110527837-chr1:151965192..151965963,2	Hela-S3	cervix:
10	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
11	chr1:151518156..151521130-chr1:151964781..151966696,2	MCF-7	breast:
12	chr1:151965252..151965940-chr19:8578547..8579256,2	Hela-S3	cervix:
13	chr1:149856742..149859715-chr1:151963697..151967031,3	MCF-7	breast:
14	chr1:151965185..151965907-chr4:152610057..152611037,2	MCF-7	breast:
15	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
16	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
17	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:
18	chr1:151965119..151967469-chr3:64007952..64010141,2	MCF-7	breast:
19	chr1:151965647..151966378-chr11:17229031..17229603,2	Hela-S3	cervix:
20	chr1:151965556..151966188-chr17:74732900..74733737,2	Hela-S3	cervix:
21	chr1:151965404..151966208-chr3:52321645..52322586,2	Hela-S3	cervix:
22	chr1:151965176..151965807-chr6:26197923..26198879,2	Hela-S3	cervix:
23	chr1:151965016..151965779-chr11:64084940..64085700,2	Hela-S3	cervix:
24	chr1:151965760..151966299-chr15:68132847..68133522,2	Hela-S3	cervix:
25	chr1:151965198..151966038-chr19:17952815..17953701,2	Hela-S3	cervix:

Variant related genes	Relation type
NBPF18P	TF binding region
S100A10	TF binding region
ENSG00000207606	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000181904	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000137807	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000201134	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000175567	Chromatin interaction
ENSG00000111845	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000133250	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000137434	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000259426	Chromatin interaction
ENSG00000168710	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000168237	Chromatin interaction
ENSG00000105639	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases
6	esv3377930	chr1:151965153-151967701	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151960400-151965800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:151960400-151965800	Transcr. at gene 5' and 3'	A549	lung
3	chr1:151960800-151966000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:151963200-151967000	Active TSS	Right Atrium	heart
5	chr1:151963400-151966800	Active TSS	Esophagus	oesophagus
6	chr1:151963600-151966800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:151963600-151967000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:151963600-151967000	Active TSS	Placenta Amnion	Placenta Amnion
9	chr1:151963800-151966000	Flanking Active TSS	Osteobl	bone
10	chr1:151964000-151966600	Active TSS	NHLF	lung
11	chr1:151964000-151966800	Active TSS	Fetal Intestine Large	intestine
12	chr1:151964000-151967400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:151964200-151966000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:151964200-151966000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:151964200-151966200	Flanking Active TSS	Placenta	Placenta
16	chr1:151964200-151966800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr1:151964400-151965800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:151964400-151966000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
19	chr1:151964400-151966200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:151964400-151966600	Active TSS	Colonic Mucosa	Colon
21	chr1:151964400-151966600	Active TSS	HSMM	muscle
22	chr1:151964400-151966800	Active TSS	Lung	lung
23	chr1:151964400-151966800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:151964400-151967000	Active TSS	Gastric	stomach
25	chr1:151964400-151967200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:151964400-151967200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:151964600-151965800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr1:151964600-151965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:151964600-151965800	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr1:151964600-151966000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:151964600-151966000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:151964600-151966000	Flanking Active TSS	K562	blood
33	chr1:151964600-151966200	Flanking Active TSS	Liver	Liver
34	chr1:151964600-151966800	Active TSS	Fetal Intestine Small	intestine
35	chr1:151964600-151966800	Active TSS	Ovary	ovary
36	chr1:151964600-151967000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:151964600-151967000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:151964600-151967000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:151964600-151967000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:151964600-151967200	Active TSS	Brain Anterior Caudate	brain
41	chr1:151964600-151967600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:151964800-151965800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:151964800-151965800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr1:151964800-151965800	Flanking Active TSS	Dnd41	blood
45	chr1:151964800-151966000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr1:151964800-151966000	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr1:151964800-151966000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr1:151964800-151966600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:151964800-151966600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr1:151964800-151966600	Active TSS	Hela-S3	cervix

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