Variant report

Variant	rs75497528
Chromosome Location	chr1:151965205-151965206
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	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	POLR2A	chr1:151965124-151965549	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr1:151964782-151965309	T-47D	breast:	n/a	chr1:151964995-151965005 chr1:151964988-151964997
5	CEBPB	chr1:151964165-151965446	A549	lung:	n/a	chr1:151964670-151964683
6	REST	chr1:151964795-151965460	PANC-1	pancreas:	n/a	n/a
7	ELK4	chr1:151964375-151965959	Hela-S3	cervix:	n/a	n/a
8	EP300	chr1:151964524-151965628	SK-N-SH	brain:	n/a	chr1:151964576-151964590 chr1:151964993-151965007 chr1:151964997-151965006
9	JUND	chr1:151964651-151965448	SK-N-SH	brain:	n/a	chr1:151965116-151965124 chr1:151964989-151964998 chr1:151965114-151965126
10	POLR2A	chr1:151964626-151967011	A549	lung:	n/a	n/a
11	SIX5	chr1:151964687-151965386	A549	lung:	n/a	chr1:151964759-151964768
12	NR3C1	chr1:151964770-151965326	ECC-1	luminal epithelium:	n/a	chr1:151964989-151964998 chr1:151964990-151964999 chr1:151965194-151965207 chr1:151965115-151965124
13	RAD21	chr1:151964621-151965412	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr1:151964606-151965412	A549	lung:	n/a	n/a
15	POLR2A	chr1:151964557-151966771	PFSK-1	brain:	n/a	n/a
16	ETS1	chr1:151964179-151965818	A549	lung:	n/a	chr1:151964993-151965006 chr1:151964997-151965004 chr1:151964993-151965004 chr1:151964991-151965005
17	FOS	chr1:151964788-151965351	Hela-S3	cervix:	n/a	chr1:151965116-151965124 chr1:151964988-151964999 chr1:151964989-151964998 chr1:151965114-151965126
18	TCF12	chr1:151963929-151968128	A549	lung:	n/a	chr1:151964984-151964991
19	POLR2A	chr1:151964776-151965463	A549	lung:	n/a	n/a
20	JUND	chr1:151964469-151967138	MCF-7	breast:	n/a	chr1:151965116-151965124 chr1:151964989-151964998 chr1:151965114-151965126
21	USF1	chr1:151964886-151965283	A549	lung:	n/a	n/a
22	USF1	chr1:151964810-151965275	A549	lung:	n/a	n/a
23	TAF1	chr1:151964652-151965947	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:151960317-151966352	A549	lung:	n/a	n/a
25	SIN3A	chr1:151964706-151965925	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELK1	chr1:151964527-151965718	Hela-S3	cervix:	n/a	n/a
27	SIN3AK20	chr1:151964602-151965896	A549	lung:	n/a	n/a
28	TBP	chr1:151963932-151965732	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:151964643-151966990	A549	lung:	n/a	n/a
30	POLR2A	chr1:151964654-151966522	HUVEC	blood vessel:	n/a	n/a
31	EP300	chr1:151964807-151965475	T-47D	breast:	n/a	chr1:151964993-151965007 chr1:151964997-151965006
32	TAF1	chr1:151964138-151966844	A549	lung:	n/a	n/a
33	ZKSCAN1	chr1:151964686-151966857	Hela-S3	cervix:	n/a	n/a
34	FOSL1	chr1:151964562-151965421	HCT-116	colon:	n/a	chr1:151965116-151965124 chr1:151964989-151964998 chr1:151965114-151965126
35	POLR2A	chr1:151964030-151967233	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr1:151964755-151965323	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr1:151964780-151966620	ProgFib	skin:	n/a	n/a
38	CREB1	chr1:151964749-151965476	A549	lung:	n/a	n/a
39	ZNF217	chr1:151964676-151965350	MCF-7	breast:	n/a	n/a
40	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
41	TAF1	chr1:151964662-151965824	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:151964053-151966959	ECC-1	luminal epithelium:	n/a	n/a
43	ELF1	chr1:151964192-151967139	MCF-7	breast:	n/a	n/a
44	NR3C1	chr1:151964758-151965335	A549	lung:	n/a	chr1:151964989-151964998 chr1:151964990-151964999 chr1:151965194-151965207 chr1:151965115-151965124
45	HDAC2	chr1:151964642-151966027	MCF-7	breast:	n/a	n/a
46	MAX	chr1:151964747-151965491	Hela-S3	cervix:	n/a	chr1:151965097-151965107
47	POLR2A	chr1:151964752-151966939	A549	lung:	n/a	n/a
48	TAF1	chr1:151964723-151966899	ECC-1	luminal epithelium:	n/a	n/a
49	FOS	chr1:151964315-151965496	HUVEC	blood vessel:	n/a	chr1:151965116-151965124 chr1:151964988-151964999 chr1:151964989-151964998 chr1:151965114-151965126
50	TCF12	chr1:151965105-151965429	GM12878	blood:	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	chr1:151964772..151965337-chr6:90539408..90540027,2	Hela-S3	cervix:
4	chr1:151963482..151966258-chr15:83734054..83736010,2	MCF-7	breast:
5	chr1:151963744..151966244-chr17:56707937..56710404,2	MCF-7	breast:
6	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:
7	chr1:46152209..46153021-chr1:151964687..151965409,2	Hela-S3	cervix:
8	chr1:151965121..151965813-chr6:10694247..10695096,2	Hela-S3	cervix:
9	chr1:110527017..110527837-chr1:151965192..151965963,2	Hela-S3	cervix:
10	chr1:151940137..151941111-chr1:151965057..151965594,2	MCF-7	breast:
11	chr1:151965063..151965638-chr20:19472066..19473066,3	Hela-S3	cervix:
12	chr1:151965016..151965606-chr19:3984949..3985626,2	Hela-S3	cervix:
13	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
14	chr1:151518156..151521130-chr1:151964781..151966696,2	MCF-7	breast:
15	chr1:151965048..151965692-chr3:194304683..194305239,2	Hela-S3	cervix:
16	chr1:151964881..151965549-chr11:93861551..93862232,2	Hela-S3	cervix:
17	chr1:149856742..149859715-chr1:151963697..151967031,3	MCF-7	breast:
18	chr1:151965003..151965766-chr20:62496399..62497166,2	Hela-S3	cervix:
19	chr1:151964894..151965453-chr16:69599856..69600428,2	Hela-S3	cervix:
20	chr1:151965185..151965907-chr4:152610057..152611037,2	MCF-7	breast:
21	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
22	chr1:151964711..151965221-chr17:56708667..56709251,2	Hela-S3	cervix:
23	chr1:151964883..151965535-chr17:48944301..48945101,2	Hela-S3	cervix:
24	chr1:151964397..151965397-chr11:67888029..67888810,2	Hela-S3	cervix:
25	chr1:151965162..151965676-chr2:196521745..196522251,2	Hela-S3	cervix:
26	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
27	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:
28	chr1:151965119..151965742-chr9:137000994..137001940,2	Hela-S3	cervix:
29	chr1:151964793..151965451-chr15:40986980..40987504,2	Hela-S3	cervix:
30	chr1:151965119..151967469-chr3:64007952..64010141,2	MCF-7	breast:
31	chr1:151965186..151965687-chr18:11365448..11365948,2	Hela-S3	cervix:
32	chr1:151964776..151965388-chr12:110939931..110940577,2	Hela-S3	cervix:
33	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
34	chr1:151964867..151965742-chr2:151343787..151344330,2	Hela-S3	cervix:
35	chr1:151965094..151965626-chr12:46777368..46777880,2	Hela-S3	cervix:
36	chr1:151964961..151965492-chr14:56046820..56047820,2	Hela-S3	cervix:
37	chr1:151965176..151965807-chr6:26197923..26198879,2	Hela-S3	cervix:
38	chr1:151861528..151864406-chr1:151963455..151965696,6	MCF-7	breast:
39	chr1:151964832..151965722-chr16:67563375..67564148,2	Hela-S3	cervix:
40	chr1:151964898..151965662-chr7:65958265..65958765,2	Hela-S3	cervix:
41	chr1:151965016..151965779-chr11:64084940..64085700,2	Hela-S3	cervix:
42	chr1:151965198..151966038-chr19:17952815..17953701,2	Hela-S3	cervix:
43	chr1:151964899..151965569-chr12:46661445..46662251,2	Hela-S3	cervix:

Variant related genes	Relation type
S100A10	TF binding region
NBPF18P	TF binding region
ENSG00000184678	Chromatin interaction
ENSG00000039523	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000102908	Chromatin interaction
ENSG00000201134	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000115963	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000118412	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000186615	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000223473	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000259426	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000111845	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000245849	Chromatin interaction
ENSG00000110218	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000196950	Chromatin interaction
ENSG00000105639	Chromatin interaction
ENSG00000168710	Chromatin interaction
ENSG00000126777	Chromatin interaction
ENSG00000151164	Chromatin interaction
ENSG00000137807	Chromatin interaction
ENSG00000167658	Chromatin interaction
ENSG00000196363	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000101150	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000237310	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000231770	Chromatin interaction
ENSG00000137434	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151960400-151965600	Transcr. at gene 5' and 3'	NHEK	skin
2	chr1:151960400-151965800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:151960400-151965800	Transcr. at gene 5' and 3'	A549	lung
4	chr1:151960600-151965400	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr1:151960600-151965600	Flanking Active TSS	NH-A	brain
6	chr1:151960800-151966000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:151961200-151965400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr1:151962800-151965600	Active TSS	Psoas Muscle	Psoas
9	chr1:151962800-151965600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr1:151963200-151967000	Active TSS	Right Atrium	heart
11	chr1:151963400-151966800	Active TSS	Esophagus	oesophagus
12	chr1:151963600-151966800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:151963600-151967000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:151963600-151967000	Active TSS	Placenta Amnion	Placenta Amnion
15	chr1:151963800-151966000	Flanking Active TSS	Osteobl	bone
16	chr1:151964000-151966600	Active TSS	NHLF	lung
17	chr1:151964000-151966800	Active TSS	Fetal Intestine Large	intestine
18	chr1:151964000-151967400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:151964200-151965400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr1:151964200-151965400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:151964200-151965600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr1:151964200-151965600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:151964200-151965600	Flanking Active TSS	Fetal Lung	lung
24	chr1:151964200-151966000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:151964200-151966000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:151964200-151966200	Flanking Active TSS	Placenta	Placenta
27	chr1:151964200-151966800	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr1:151964400-151965400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:151964400-151965400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:151964400-151965400	Bivalent Enhancer	Fetal Heart	heart
31	chr1:151964400-151965600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:151964400-151965800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:151964400-151966000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr1:151964400-151966200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:151964400-151966600	Active TSS	Colonic Mucosa	Colon
36	chr1:151964400-151966600	Active TSS	HSMM	muscle
37	chr1:151964400-151966800	Active TSS	Lung	lung
38	chr1:151964400-151966800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:151964400-151967000	Active TSS	Gastric	stomach
40	chr1:151964400-151967200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr1:151964400-151967200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:151964600-151965400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:151964600-151965800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:151964600-151965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:151964600-151965800	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr1:151964600-151966000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:151964600-151966000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:151964600-151966000	Flanking Active TSS	K562	blood
49	chr1:151964600-151966200	Flanking Active TSS	Liver	Liver
50	chr1:151964600-151966800	Active TSS	Fetal Intestine Small	intestine

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