Variant report

Variant	rs7334233
Chromosome Location	chr13:37574681-37574682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:122)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:37572632-37576457	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr13:37574660-37574810	Caco-2	colon:	n/a	n/a
3	POLR2A	chr13:37572487-37575961	Hela-S3	cervix:	n/a	n/a
4	ETS1	chr13:37574435-37575122	A549	lung:	n/a	n/a
5	TAF1	chr13:37574303-37575375	GM12878	blood:	n/a	n/a
6	POLR2A	chr13:37572512-37576273	PBDE	blood:	n/a	n/a
7	STAT3	chr13:37574493-37574739	MCF10A-Er-Src	breast:	n/a	n/a
8	YY1	chr13:37574629-37575244	NT2-D1	testis:	n/a	n/a
9	POLR2A	chr13:37574339-37575246	Gliobla	brain:	n/a	n/a
10	POLR2A	chr13:37573171-37575459	SK-N-MC	brain:	n/a	n/a
11	STAT3	chr13:37574546-37574727	MCF10A-Er-Src	breast:	n/a	n/a
12	JUND	chr13:37574505-37575174	H1-hESC	embryonic stem cell:	n/a	chr13:37574675-37574683
13	E2F4	chr13:37574443-37575185	K562	blood:	n/a	chr13:37574932-37574943
14	CEBPB	chr13:37574524-37574906	K562	blood:	n/a	n/a
15	YY1	chr13:37574597-37575266	K562	blood:	n/a	n/a
16	POLR2A	chr13:37574049-37575346	GM12891	blood:	n/a	n/a
17	E2F4	chr13:37574680-37575141	GM12878	blood:	n/a	chr13:37574932-37574943
18	HCFC1	chr13:37574515-37575323	K562	blood:	n/a	n/a
19	CREB1	chr13:37574643-37575082	A549	lung:	n/a	n/a
20	RPC155	chr13:37574010-37574820	Hela-S3	cervix:	n/a	n/a
21	EP300	chr13:37574504-37575236	GM12878	blood:	n/a	n/a
22	KAP1	chr13:37574450-37575182	U2OS	brain:	n/a	n/a
23	USF2	chr13:37574499-37575603	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr13:37574585-37574850	K562	blood:	n/a	n/a
25	GTF2F1	chr13:37573977-37575202	Hela-S3	cervix:	n/a	n/a
26	CREB1	chr13:37574420-37575341	HepG2	liver:	n/a	n/a
27	POLR2A	chr13:37574462-37575434	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr13:37574461-37575389	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr13:37573019-37575349	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr13:37573960-37575687	PFSK-1	brain:	n/a	n/a
31	EGR1	chr13:37574588-37575189	ECC-1	luminal epithelium:	n/a	chr13:37574880-37574894 chr13:37574794-37574807
32	GTF2F1	chr13:37574452-37575206	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFIC	chr13:37574375-37575031	GM12878	blood:	n/a	n/a
34	REST	chr13:37572344-37575733	H1-neurons	neurons:	n/a	chr13:37572799-37572808
35	POLR2A	chr13:37572684-37575498	GM19193	blood:	n/a	n/a
36	REST	chr13:37574440-37575422	HL-60	blood:	n/a	n/a
37	EP300	chr13:37574435-37575310	SK-N-SH	brain:	n/a	n/a
38	RCOR1	chr13:37574493-37575285	GM12878	blood:	n/a	n/a
39	ZEB1	chr13:37574640-37575219	GM12878	blood:	n/a	chr13:37575037-37575044
40	MAFK	chr13:37574569-37575008	HepG2	liver:	n/a	n/a
41	PML	chr13:37574374-37575195	K562	blood:	n/a	n/a
42	YY1	chr13:37574467-37575319	SK-N-SH_RA	brain:	n/a	n/a
43	POLR2A	chr13:37572509-37575376	GM12878	blood:	n/a	n/a
44	POLR2A	chr13:37574325-37575305	K562	blood:	n/a	n/a
45	FOXM1	chr13:37574394-37575375	GM12878	blood:	n/a	n/a
46	POLR2A	chr13:37572781-37575968	NB4	blood:	n/a	n/a
47	REST	chr13:37574512-37575138	HepG2	liver:	n/a	n/a
48	MYC	chr13:37572429-37575760	NB4	blood:	n/a	chr13:37575565-37575574 chr13:37573547-37573556
49	SPI1	chr13:37574582-37574851	GM12891	blood:	n/a	n/a
50	MAX	chr13:37574426-37575382	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:37574657-37574707	PrEC	prostate:	n/a
2	chr13:37574657-37574707	HCPEpiC	choroid plexus:	n/a
3	chr13:37574636-37574686	IMR90	lung:	fetal
4	chr13:37574657-37574707	AG09309	skin:	n/a
5	chr13:37574636-37574686	SK-N-SH	brain:	n/a
6	chr13:37574657-37574707	GM19239	blood:	n/a
7	chr13:37574636-37574686	HCM	heart:	n/a
8	chr13:37574657-37574707	HNPCEpiC	eye:	n/a
9	chr13:37574636-37574686	AG10803	skin:	n/a
10	chr13:37574636-37574686	GM12891	blood:	n/a
11	chr13:37574636-37574686	PANC-1	pancreas:	n/a
12	chr13:37574657-37574707	SAEC	small airway:	n/a
13	chr13:37574636-37574686	HCF	heart:	n/a
14	chr13:37574636-37574686	HNPCEpiC	eye:	n/a
15	chr13:37574657-37574707	A549	lung:	n/a
16	chr13:37574636-37574686	AG09319	gingival:	n/a
17	chr13:37574657-37574707	HAEpiC	amniotic membrane:	n/a
18	chr13:37574657-37574707	HepG2	liver:	n/a
19	chr13:37574636-37574686	CMK	blood:	n/a
20	chr13:37574657-37574707	AG04449	skin:	fetal
21	chr13:37574636-37574686	Hela-S3	cervix:	n/a
22	chr13:37574636-37574686	NHBE	bronchial:	n/a
23	chr13:37574636-37574686	HEK293	kidney:	embryo
24	chr13:37574657-37574707	AG09319	gingival:	n/a
25	chr13:37574636-37574686	SK-N-SH_RA	brain:	n/a
26	chr13:37574657-37574707	U87	brain:	n/a
27	chr13:37574657-37574707	GM12891	blood:	n/a
28	chr13:37574636-37574686	SK-N-MC	brain:	n/a
29	chr13:37574636-37574686	GM12878	blood:	n/a
30	chr13:37574636-37574686	SAEC	small airway:	n/a
31	chr13:37574657-37574707	NH-A	brain:	n/a
32	chr13:37574636-37574686	NB4	blood:	n/a
33	chr13:37574657-37574707	NT2-D1	testis:	n/a
34	chr13:37574636-37574686	Caco-2	colon:	n/a
35	chr13:37574657-37574707	MCF-7	breast:	n/a
36	chr13:37574657-37574707	HIPEpiC	eye:	n/a
37	chr13:37574636-37574686	GM12892	blood:	n/a
38	chr13:37574657-37574707	HMEC	breast:	n/a
39	chr13:37574657-37574707	SK-N-SH	brain:	n/a
40	chr13:37574636-37574686	U87	brain:	n/a
41	chr13:37574636-37574686	H1-hESC	embryonic stem cell:	embryo
42	chr13:37574657-37574707	SK-N-SH_RA	brain:	n/a
43	chr13:37574657-37574707	HEK293	kidney:	embryo
44	chr13:37574657-37574707	HCM	heart:	n/a
45	chr13:37574636-37574686	K562	blood:	n/a
46	chr13:37574657-37574707	CMK	blood:	n/a
47	chr13:37574657-37574707	MCF10A-Er-Src	breast:	n/a
48	chr13:37574636-37574686	GM06990	blood:	n/a
49	chr13:37574657-37574707	HRE	kidney:	n/a
50	chr13:37574657-37574707	AoSMC	blood vessel:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:37391998..37395280-chr13:37572864..37574829,4	MCF-7	breast:
2	chr13:36918584..36920970-chr13:37573605..37575621,2	K562	blood:
3	chr13:37574255..37575091-chr4:100867405..100868184,2	HCT-116	colon:
4	chr13:37574218..37575143-chr2:73461255..73461849,2	Hela-S3	cervix:
5	chr13:37572263..37575251-chr3:161088174..161090196,2	MCF-7	breast:
6	chr12:120554464..120555422-chr13:37574233..37574748,2	NB4	blood:
7	chr13:37574206..37574708-chr14:31889229..31890178,2	Hela-S3	cervix:
8	chr13:37574290..37574876-chr3:49710833..49711802,2	NB4	blood:
9	chr13:37571989..37576230-chr13:37592486..37599969,7	MCF-7	breast:
10	chr13:37572417..37575277-chr13:37600927..37603814,2	K562	blood:
11	chr10:6244272..6246403-chr13:37573169..37575216,2	MCF-7	breast:
12	chr13:37573339..37577948-chr13:37631578..37635345,7	K562	blood:
13	chr13:37571801..37576368-chr13:37598708..37601979,7	MCF-7	breast:
14	chr11:8703675..8704260-chr13:37574593..37575136,2	NB4	blood:
15	chr13:37570200..37576399-chr13:37580273..37587423,15	MCF-7	breast:
16	chr13:36884953..36887796-chr13:37573173..37575304,2	MCF-7	breast:
17	chr11:66247089..66247705-chr13:37574325..37575055,2	Hela-S3	cervix:
18	chr13:37573411..37578166-chr13:37631570..37635674,7	MCF-7	breast:
19	chr13:37492947..37495900-chr13:37572784..37574980,3	MCF-7	breast:
20	chr13:37572711..37577948-chr13:37631792..37635345,6	K562	blood:
21	chr1:244998172..244999152-chr13:37574284..37575176,2	Hela-S3	cervix:
22	chr13:37540140..37543053-chr13:37572070..37575020,3	K562	blood:
23	chr13:37540140..37543219-chr13:37571723..37575020,3	K562	blood:
24	chr11:76495179..76497030-chr13:37572998..37574971,2	MCF-7	breast:
25	chr13:36918832..36922132-chr13:37572104..37576040,5	K562	blood:
26	chr13:37574434..37575100-chr20:43594617..43595395,2	Hela-S3	cervix:
27	chr13:37572134..37576910-chr13:37632372..37635841,8	MCF-7	breast:
28	chr13:37573253..37575127-chr13:37606334..37610138,3	MCF-7	breast:
29	chr13:37393227..37394929-chr13:37573717..37575615,2	MCF-7	breast:
30	chr13:37573255..37575883-chr13:37618152..37622818,4	MCF-7	breast:

No data

Variant related genes	Relation type
EXOSC8	TF binding region
ALG5	TF binding region
EXOSC8	CpG island
ALG5	CpG island
ENSG00000135624	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000101109	Chromatin interaction
ENSG00000182704	Chromatin interaction
ENSG00000120693	Chromatin interaction
ENSG00000120664	Chromatin interaction
ENSG00000120699	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000129493	Chromatin interaction
ENSG00000227477	Chromatin interaction
ENSG00000102710	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000133111	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000221100	Chromatin interaction
ENSG00000133104	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000250365	Chromatin interaction
ENSG00000203667	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1199951	1.00[AFR][1000 genomes]
rs1199963	0.81[AMR][1000 genomes]
rs1199972	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1199974	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1199981	0.81[AMR][1000 genomes]
rs1199982	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1199983	0.91[AFR][1000 genomes]
rs1199987	0.84[AFR][1000 genomes]
rs12865199	0.90[EUR][1000 genomes]
rs1764483	0.81[AMR][1000 genomes]
rs1924419	0.99[EUR][1000 genomes]
rs1924420	0.97[EUR][1000 genomes]
rs1924421	0.83[EUR][1000 genomes]
rs1924422	0.99[EUR][1000 genomes]
rs1924426	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1937761	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2147169	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2181787	0.95[EUR][1000 genomes]
rs2181788	0.83[EUR][1000 genomes]
rs2186157	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2323165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2785620	0.81[AMR][1000 genomes]
rs2801799	0.91[AFR][1000 genomes]
rs4291799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4624036	0.81[EUR][1000 genomes]
rs483304	0.81[EUR][1000 genomes]
rs4941854	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4941855	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4941856	0.96[EUR][1000 genomes]
rs568992	0.85[EUR][1000 genomes]
rs6563506	0.83[EUR][1000 genomes]
rs6563507	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563508	0.81[AMR][1000 genomes]
rs71432622	0.86[EUR][1000 genomes]
rs73175079	1.00[AFR][1000 genomes]
rs7317750	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7321129	0.99[EUR][1000 genomes]
rs7329314	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7338929	0.96[EUR][1000 genomes]
rs7339296	0.81[AMR][1000 genomes]
rs7982674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7983986	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7984730	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7989205	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7991057	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7991181	0.99[EUR][1000 genomes]
rs9315458	0.88[EUR][1000 genomes]
rs9315459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9531998	0.99[EUR][1000 genomes]
rs9532001	0.99[EUR][1000 genomes]
rs9532002	0.99[EUR][1000 genomes]
rs9532004	0.99[EUR][1000 genomes]
rs9532005	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547707	0.99[EUR][1000 genomes]
rs9547712	0.99[EUR][1000 genomes]
rs9547715	0.99[EUR][1000 genomes]
rs9547717	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9547718	0.99[EUR][1000 genomes]
rs9576153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9576154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9594181	0.99[EUR][1000 genomes]
rs9603121	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7334233	SUPT20H	cis	Whole Blood	GTEx
rs7334233	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37571600-37576200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:37571800-37576200	Active TSS	GM12878-XiMat	blood
3	chr13:37571800-37576400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:37571800-37576400	Active TSS	K562	blood
5	chr13:37572000-37575800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr13:37572000-37575800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr13:37572000-37575800	Active TSS	HSMM	muscle
8	chr13:37572000-37576000	Active TSS	NHDF-Ad	bronchial
9	chr13:37572200-37575600	Active TSS	Fetal Intestine Small	intestine
10	chr13:37572200-37575600	Active TSS	Pancreas	Pancrea
11	chr13:37572200-37575600	Active TSS	Placenta Amnion	Placenta Amnion
12	chr13:37572200-37575600	Active TSS	Rectal Smooth Muscle	rectum
13	chr13:37572200-37575800	Active TSS	Colonic Mucosa	Colon
14	chr13:37572200-37575800	Active TSS	Fetal Muscle Trunk	muscle
15	chr13:37572200-37576200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:37572200-37576200	Active TSS	Hela-S3	cervix
17	chr13:37572200-37576400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr13:37572200-37576400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr13:37572400-37575400	Active TSS	Stomach Mucosa	stomach
20	chr13:37572400-37575600	Active TSS	Gastric	stomach
21	chr13:37572400-37575600	Active TSS	Lung	lung
22	chr13:37572400-37575600	Active TSS	Ovary	ovary
23	chr13:37572400-37575600	Active TSS	HSMMtube	muscle
24	chr13:37572400-37575800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:37572400-37575800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:37572400-37575800	Active TSS	Psoas Muscle	Psoas
27	chr13:37572400-37575800	Active TSS	Right Ventricle	heart
28	chr13:37572400-37576000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr13:37572400-37576000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:37572400-37576000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:37572400-37576000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:37572400-37576000	Active TSS	Right Atrium	heart
33	chr13:37572400-37576200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:37572400-37576200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:37572400-37576400	Active TSS	A549	lung
36	chr13:37572400-37576600	Active TSS	NHLF	lung
37	chr13:37572600-37575400	Active TSS	Fetal Brain Female	brain
38	chr13:37572600-37575600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:37572600-37575600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:37572600-37575600	Active TSS	Colon Smooth Muscle	Colon
41	chr13:37572600-37575600	Active TSS	Left Ventricle	heart
42	chr13:37572600-37575800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr13:37572600-37575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:37572600-37575800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:37572600-37575800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr13:37572600-37575800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr13:37572600-37575800	Active TSS	Fetal Kidney	kidney
48	chr13:37572600-37575800	Active TSS	Fetal Stomach	stomach
49	chr13:37572600-37576000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:37572600-37576000	Active TSS	H9 Cell Line	embryonic stem cell

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