Variant report

Variant	rs72744254
Chromosome Location	chr9:108210196-108210197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:482)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:108209926-108211196	Hela-S3	cervix:	n/a	n/a
2	UBTF	chr9:108209988-108211263	K562	blood:	n/a	n/a
3	POLR2A	chr9:108209980-108210542	HepG2	liver:	n/a	n/a
4	ZNF143	chr9:108209820-108210447	GM12878	blood:	n/a	n/a
5	CHD2	chr9:108209858-108211101	K562	blood:	n/a	n/a
6	TAF1	chr9:108209924-108210636	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr9:108210120-108210270	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr9:108210180-108210330	AG04450	lung:	n/a	n/a
9	PBX3	chr9:108209940-108210630	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr9:108209861-108210918	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:108210083-108211154	H1-hESC	embryonic stem cell:	n/a	n/a
12	NR2C2	chr9:108210117-108210536	HepG2	liver:	n/a	chr9:108210310-108210325 chr9:108210311-108210324
13	CTCF	chr9:108210160-108210310	GM12867	blood:	n/a	n/a
14	YY1	chr9:108209896-108210858	HepG2	liver:	n/a	chr9:108210523-108210534
15	HEY1	chr9:108210000-108210555	HepG2	liver:	n/a	chr9:108210268-108210283 chr9:108210264-108210279 chr9:108210091-108210106
16	POLR2A	chr9:108209943-108210567	HepG2	liver:	n/a	n/a
17	NFIC	chr9:108210056-108210464	GM12878	blood:	n/a	n/a
18	MXI1	chr9:108209566-108212406	SK-N-SH	brain:	n/a	n/a
19	SMC3	chr9:108209821-108210421	GM12878	blood:	n/a	n/a
20	STAT3	chr9:108210149-108210278	MCF10A-Er-Src	breast:	n/a	chr9:108210243-108210254 chr9:108210172-108210184
21	PML	chr9:108209668-108210660	GM12878	blood:	n/a	n/a
22	CTCF	chr9:108210063-108210359	IMR90	lung:	n/a	n/a
23	POLR2A	chr9:108209861-108210685	HUVEC	blood vessel:	n/a	n/a
24	CHD2	chr9:108209938-108210535	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr9:108210160-108210310	NHEK	skin:	n/a	n/a
26	POLR2A	chr9:108210056-108210524	HepG2	liver:	n/a	n/a
27	YY1	chr9:108210008-108210675	K562	blood:	n/a	chr9:108210523-108210534
28	CTCF	chr9:108210120-108210270	HMF	breast:	n/a	n/a
29	CTCF	chr9:108210100-108210250	GM12864	blood:	n/a	n/a
30	CTCF	chr9:108210078-108210419	MCF-7	breast:	n/a	n/a
31	POLR2A	chr9:108209820-108211094	SK-N-SH	brain:	n/a	n/a
32	MYC	chr9:108209767-108210770	MCF10A-Er-Src	breast:	n/a	chr9:108210570-108210580
33	CTCF	chr9:108210140-108210290	HPAF	blood vessel:	n/a	n/a
34	ZBTB7A	chr9:108209774-108211072	ECC-1	luminal epithelium:	n/a	n/a
35	TAF1	chr9:108209747-108210685	A549	lung:	n/a	n/a
36	CTCF	chr9:108210140-108210290	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr9:108210180-108210330	GM12865	blood:	n/a	n/a
38	REST	chr9:108209786-108210260	A549	lung:	n/a	chr9:108210102-108210112
39	TCF3	chr9:108210072-108210513	GM12878	blood:	n/a	n/a
40	CTCF	chr9:108210060-108210210	NB4	blood:	n/a	n/a
41	POLR2A	chr9:108209899-108211038	GM12878	blood:	n/a	n/a
42	NRF1	chr9:108209979-108210732	SK-N-SH	brain:	n/a	chr9:108210570-108210579 chr9:108210265-108210279 chr9:108210268-108210279 chr9:108210268-108210277 chr9:108210267-108210278 chr9:108210268-108210282
43	CTCF	chr9:108210093-108210332	ProgFib	skin:	n/a	n/a
44	CTCF	chr9:108210120-108210270	GM12866	blood:	n/a	n/a
45	CTCF	chr9:108210140-108210290	GM12864	blood:	n/a	n/a
46	CTCF	chr9:108210160-108210310	A549	lung:	n/a	n/a
47	EP300	chr9:108209990-108210452	H1-hESC	embryonic stem cell:	n/a	chr9:108210094-108210110 chr9:108210271-108210287
48	WRNIP1	chr9:108210075-108210275	GM12878	blood:	n/a	n/a
49	POLR2A	chr9:108209984-108210742	GM12892	blood:	n/a	n/a
50	TAF1	chr9:108210168-108210546	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:108210153-108210203	LNCaP	prostate:	n/a
2	chr9:108210153-108210203	PANC-1	pancreas:	n/a
3	chr9:108210153-108210203	AoSMC	blood vessel:	n/a
4	chr9:108210153-108210203	PrEC	prostate:	n/a
5	chr9:108210153-108210203	HCM	heart:	n/a
6	chr9:108210153-108210203	HEEpiC	esophagus:	n/a
7	chr9:108210153-108210203	GM12891	blood:	n/a
8	chr9:108210153-108210203	IMR90	lung:	fetal
9	chr9:108210153-108210203	ECC-1	luminal epithelium:	n/a
10	chr9:108210153-108210203	HRCEpiC	kidney:	n/a
11	chr9:108210153-108210203	HepG2	liver:	n/a
12	chr9:108210153-108210203	HRPEpiC	eye:	n/a
13	chr9:108210153-108210203	AG04449	skin:	fetal
14	chr9:108210153-108210203	SKMC	muscle:	n/a
15	chr9:108210153-108210203	HCPEpiC	choroid plexus:	n/a
16	chr9:108210153-108210203	MCF-7	breast:	n/a
17	chr9:108210153-108210203	NHDF-neo	bronchial:	n/a
18	chr9:108210153-108210203	AG09309	skin:	n/a
19	chr9:108210153-108210203	CMK	blood:	n/a
20	chr9:108210153-108210203	SK-N-SH_RA	brain:	n/a
21	chr9:108210153-108210203	GM06990	blood:	n/a
22	chr9:108210153-108210203	GM19239	blood:	n/a
23	chr9:108210153-108210203	SK-N-MC	brain:	n/a
24	chr9:108210153-108210203	BJ	skin:	n/a
25	chr9:108210153-108210203	Caco-2	colon:	n/a
26	chr9:108210153-108210203	A549	lung:	n/a
27	chr9:108210153-108210203	BE2_C	brain:	n/a
28	chr9:108210153-108210203	AG09319	gingival:	n/a
29	chr9:108210153-108210203	PFSK-1	brain:	n/a
30	chr9:108210153-108210203	SK-N-SH	brain:	n/a
31	chr9:108210153-108210203	MCF10A-Er-Src	breast:	n/a
32	chr9:108210153-108210203	Hepatocyte	liver:	n/a
33	chr9:108210153-108210203	H1-hESC	embryonic stem cell:	embryo
34	chr9:108210153-108210203	U87	brain:	n/a
35	chr9:108210153-108210203	HPAEpiC	pulmonary alveolar:	n/a
36	chr9:108210153-108210203	RPTEC	kidney:	n/a
37	chr9:108210153-108210203	SAEC	small airway:	n/a
38	chr9:108210153-108210203	GM12892	blood:	n/a
39	chr9:108210153-108210203	NB4	blood:	n/a
40	chr9:108210153-108210203	HCT-116	colon:	n/a
41	chr9:108210153-108210203	HMEC	breast:	n/a
42	chr9:108210153-108210203	GM12878	blood:	n/a
43	chr9:108210153-108210203	HCF	heart:	n/a
44	chr9:108210153-108210203	Hela-S3	cervix:	n/a
45	chr9:108210153-108210203	AG04450	lung:	fetal
46	chr9:108210153-108210203	NH-A	brain:	n/a
47	chr9:108210153-108210203	Jurkat	blood:	n/a
48	chr9:108210153-108210203	HNPCEpiC	eye:	n/a
49	chr9:108210153-108210203	HEK293	kidney:	embryo
50	chr9:108210153-108210203	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
FSD1L	TF binding region
FSD1L	CpG island

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1018848	0.83[ASN][1000 genomes]
rs1018849	0.83[ASN][1000 genomes]
rs10820805	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10820806	0.87[ASN][1000 genomes]
rs10820816	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10991661	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991662	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10991664	0.87[ASN][1000 genomes]
rs10991666	0.87[ASN][1000 genomes]
rs10991675	0.87[ASN][1000 genomes]
rs10991680	0.81[ASN][1000 genomes]
rs10991688	0.82[ASN][1000 genomes]
rs12235779	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12555267	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1327351	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1329021	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1329022	0.88[ASN][1000 genomes]
rs1576285	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16924672	0.84[ASN][1000 genomes]
rs16924676	0.86[ASN][1000 genomes]
rs1928293	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1928294	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2068266	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2518110	0.87[ASN][1000 genomes]
rs2518111	0.86[ASN][1000 genomes]
rs2518113	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2518118	0.82[ASN][1000 genomes]
rs2518119	0.83[ASN][1000 genomes]
rs2518122	0.83[ASN][1000 genomes]
rs2768278	0.87[ASN][1000 genomes]
rs2768284	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2768285	0.85[ASN][1000 genomes]
rs2768286	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2768287	0.87[ASN][1000 genomes]
rs2768288	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2768293	0.87[ASN][1000 genomes]
rs2768296	0.87[ASN][1000 genomes]
rs2904847	0.86[ASN][1000 genomes]
rs4302902	0.88[ASN][1000 genomes]
rs56134629	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72744266	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72744269	0.87[ASN][1000 genomes]
rs885955	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr9:108209600-108210200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr9:108209600-108210200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr9:108209600-108210200	Flanking Active TSS	Fetal Muscle Trunk	muscle
4	chr9:108209600-108210200	Flanking Active TSS	Fetal Muscle Leg	muscle
5	chr9:108209600-108210200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr9:108209600-108210200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr9:108209600-108210200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr9:108209600-108210200	Flanking Active TSS	Dnd41	blood
9	chr9:108209600-108210200	Flanking Active TSS	Hela-S3	cervix
10	chr9:108209600-108210200	Flanking Active TSS	HMEC	breast
11	chr9:108209600-108210400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:108209600-108210400	Active TSS	Brain Germinal Matrix	brain
13	chr9:108209600-108210800	Active TSS	Primary T cells from cord blood	blood
14	chr9:108209600-108211000	Active TSS	Brain Anterior Caudate	brain
15	chr9:108209600-108211000	Active TSS	Rectal Smooth Muscle	rectum
16	chr9:108209600-108211200	Active TSS	Brain Angular Gyrus	brain
17	chr9:108209600-108211400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr9:108209600-108211400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr9:108209600-108211400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:108209600-108211400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr9:108209600-108211400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:108209600-108211400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr9:108209600-108211400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:108209600-108211400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr9:108209600-108211600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr9:108209600-108211600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr9:108209600-108211600	Active TSS	Fetal Brain Female	brain
28	chr9:108209600-108211600	Active TSS	Fetal Intestine Small	intestine
29	chr9:108209600-108211600	Active TSS	K562	blood
30	chr9:108209600-108211800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr9:108209600-108211800	Active TSS	Fetal Kidney	kidney
32	chr9:108209600-108211800	Active TSS	NHDF-Ad	bronchial
33	chr9:108209600-108212000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr9:108209800-108210200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:108209800-108210200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:108209800-108210200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:108209800-108210200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:108209800-108210200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr9:108209800-108210200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr9:108209800-108210200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr9:108209800-108210200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr9:108209800-108210200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr9:108209800-108210200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr9:108209800-108210200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr9:108209800-108210200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:108209800-108210200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr9:108209800-108210200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:108209800-108210200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr9:108209800-108210200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:108209800-108210200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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