Variant report

Variant	rs11555602
Chromosome Location	chr4:175204676-175204677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:394)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:175204648-175205371	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:175204077-175205518	GM18951	blood:	n/a	n/a
3	POLR2A	chr4:175204058-175206180	K562	blood:	n/a	n/a
4	YY1	chr4:175204227-175205217	SK-N-SH_RA	brain:	n/a	chr4:175204583-175204592 chr4:175204580-175204591
5	MAX	chr4:175204294-175205558	A549	lung:	n/a	n/a
6	POU2F2	chr4:175204129-175205409	GM12878	blood:	n/a	chr4:175205394-175205407
7	TAF1	chr4:175204556-175205270	GM12891	blood:	n/a	n/a
8	POLR2A	chr4:175204629-175205357	PANC-1	pancreas:	n/a	n/a
9	E2F4	chr4:175204235-175206216	MCF10A-Er-Src	breast:	n/a	chr4:175205136-175205151 chr4:175205158-175205167
10	POLR2A	chr4:175204187-175205709	MCF-7	breast:	n/a	n/a
11	ELF1	chr4:175204140-175205319	HepG2	liver:	n/a	chr4:175204818-175204827 chr4:175204583-175204592
12	ZNF143	chr4:175204250-175205287	GM12878	blood:	n/a	chr4:175205043-175205062
13	POLR2A	chr4:175204158-175205518	K562	blood:	n/a	n/a
14	BRCA1	chr4:175204057-175204990	Hela-S3	cervix:	n/a	chr4:175204867-175204874
15	MYC	chr4:175204129-175205602	K562	blood:	n/a	n/a
16	TBP	chr4:175204050-175206256	K562	blood:	n/a	chr4:175205353-175205364
17	NFYB	chr4:175204017-175205576	GM12878	blood:	n/a	chr4:175204422-175204436
18	EP300	chr4:175203614-175205762	GM12878	blood:	n/a	chr4:175203776-175203790 chr4:175204820-175204827 chr4:175204764-175204780
19	MAZ	chr4:175204656-175205504	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr4:175204361-175205419	A549	lung:	n/a	n/a
21	YY1	chr4:175204443-175205050	GM12892	blood:	n/a	chr4:175204583-175204592 chr4:175204580-175204591
22	POLR2A	chr4:175203978-175205803	IMR90	lung:	n/a	n/a
23	EP300	chr4:175203916-175206360	SK-N-SH	brain:	n/a	chr4:175204820-175204827 chr4:175204764-175204780
24	UBTF	chr4:175204670-175205586	K562	blood:	n/a	n/a
25	MAX	chr4:175204627-175205526	A549	lung:	n/a	n/a
26	CREB1	chr4:175204069-175205368	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:175204007-175206319	K562	blood:	n/a	n/a
28	IRF1	chr4:175204050-175205754	K562	blood:	n/a	chr4:175204219-175204231 chr4:175204497-175204514 chr4:175204351-175204365 chr4:175204497-175204509
29	CREB1	chr4:175204546-175205254	ECC-1	luminal epithelium:	n/a	n/a
30	BCL3	chr4:175204585-175205287	A549	lung:	n/a	chr4:175204819-175204828
31	SPI1	chr4:175204076-175205173	HL-60	blood:	n/a	n/a
32	TCF7L2	chr4:175204267-175205472	Hela-S3	cervix:	n/a	chr4:175205257-175205264
33	SIN3AK20	chr4:175204305-175205438	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr4:175204031-175205544	GM12878	blood:	n/a	n/a
35	MAX	chr4:175204534-175205744	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr4:175203989-175206208	GM12891	blood:	n/a	n/a
37	CTCF	chr4:175204600-175204750	HCPEpiC	choroid plexus:	n/a	n/a
38	POLR2A	chr4:175203976-175205495	HUVEC	blood vessel:	n/a	n/a
39	CEBPB	chr4:175204056-175205241	Hela-S3	cervix:	n/a	chr4:175204269-175204280
40	REST	chr4:175203945-175205770	H1-neurons	neurons:	n/a	chr4:175205341-175205361
41	POLR2A	chr4:175204401-175205719	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr4:175204094-175205738	Hela-S3	cervix:	n/a	n/a
43	NFATC1	chr4:175204632-175205222	GM12878	blood:	n/a	n/a
44	SP2	chr4:175204162-175204944	H1-hESC	embryonic stem cell:	n/a	chr4:175204386-175204409
45	POLR2A	chr4:175204068-175205665	GM12892	blood:	n/a	n/a
46	HMGN3	chr4:175204145-175204786	K562	blood:	n/a	n/a
47	CTCF	chr4:175204660-175204810	GM12871	blood:	n/a	chr4:175204767-175204780
48	WRNIP1	chr4:175204183-175205578	GM12878	blood:	n/a	n/a
49	TAF1	chr4:175204115-175205478	K562	blood:	n/a	n/a
50	CTCF	chr4:175204600-175204750	AG10803	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:175204644-175204694	K562	blood:	n/a
2	chr4:175204644-175204694	SK-N-MC	brain:	n/a
3	chr4:175204644-175204694	SK-N-SH_RA	brain:	n/a
4	chr4:175204644-175204694	U87	brain:	n/a
5	chr4:175204644-175204694	HRE	kidney:	n/a
6	chr4:175204644-175204694	BJ	skin:	n/a
7	chr4:175204644-175204694	ProgFib	skin:	n/a
8	chr4:175204644-175204694	ovcar-3	ovarian:	n/a
9	chr4:175204644-175204694	AG10803	skin:	n/a
10	chr4:175204644-175204694	ECC-1	luminal epithelium:	n/a
11	chr4:175204644-175204694	RPTEC	kidney:	n/a
12	chr4:175204644-175204694	HCM	heart:	n/a
13	chr4:175204644-175204694	NB4	blood:	n/a
14	chr4:175204644-175204694	AG04449	skin:	fetal
15	chr4:175204644-175204694	GM06990	blood:	n/a
16	chr4:175204644-175204694	PANC-1	pancreas:	n/a
17	chr4:175204644-175204694	SAEC	small airway:	n/a
18	chr4:175204644-175204694	HCPEpiC	choroid plexus:	n/a
19	chr4:175204644-175204694	AG04450	lung:	fetal
20	chr4:175204644-175204694	HUVEC	blood vessel:	n/a
21	chr4:175204644-175204694	LNCaP	prostate:	n/a
22	chr4:175204644-175204694	GM12891	blood:	n/a
23	chr4:175204644-175204694	PFSK-1	brain:	n/a
24	chr4:175204644-175204694	HAEpiC	amniotic membrane:	n/a
25	chr4:175204644-175204694	Caco-2	colon:	n/a
26	chr4:175204644-175204694	SKMC	muscle:	n/a
27	chr4:175204644-175204694	IMR90	lung:	fetal
28	chr4:175204644-175204694	HEK293	kidney:	embryo
29	chr4:175204644-175204694	HL-60	blood:	n/a
30	chr4:175204644-175204694	HRPEpiC	eye:	n/a
31	chr4:175204644-175204694	HIPEpiC	eye:	n/a
32	chr4:175204644-175204694	HEEpiC	esophagus:	n/a
33	chr4:175204644-175204694	Hela-S3	cervix:	n/a
34	chr4:175204644-175204694	NHBE	bronchial:	n/a
35	chr4:175204644-175204694	HCT-116	colon:	n/a
36	chr4:175204644-175204694	NT2-D1	testis:	n/a
37	chr4:175204644-175204694	Hepatocyte	liver:	n/a
38	chr4:175204644-175204694	NHDF-neo	bronchial:	n/a
39	chr4:175204644-175204694	T-47D	breast:	n/a
40	chr4:175204644-175204694	HRCEpiC	kidney:	n/a
41	chr4:175204644-175204694	AoSMC	blood vessel:	n/a
42	chr4:175204644-175204694	A549	lung:	n/a
43	chr4:175204644-175204694	MCF10A-Er-Src	breast:	n/a
44	chr4:175204644-175204694	AG09309	skin:	n/a
45	chr4:175204644-175204694	H1-hESC	embryonic stem cell:	embryo
46	chr4:175204644-175204694	HMEC	breast:	n/a
47	chr4:175204644-175204694	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:175204644-175204694	AG09319	gingival:	n/a
49	chr4:175204644-175204694	GM12878	blood:	n/a
50	chr4:175204644-175204694	CMK	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56736047..56736864-chr4:175204420..175205368,2	Hela-S3	cervix:
2	chr19:34286399..34287049-chr4:175204496..175205168,2	Hela-S3	cervix:
3	chr10:94333702..94334335-chr4:175204172..175204860,2	Hela-S3	cervix:
4	chr20:37554855..37555497-chr4:175204533..175205412,2	Hela-S3	cervix:
5	chr4:175204473..175205373-chr9:130213191..130213790,2	Hela-S3	cervix:
6	chr4:175197802..175199409-chr4:175202046..175204752,2	MCF-7	breast:
7	chr4:175203637..175205285-chr4:175218500..175220643,2	K562	blood:

No data

Variant related genes	Relation type
CEP44	TF binding region
CEP44	CpG island
ENSG00000148356	Chromatin interaction
ENSG00000119912	Chromatin interaction
ENSG00000153885	Chromatin interaction
ENSG00000164118	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000101447	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11929798	1.00[JPT][hapmap]
rs11933187	1.00[JPT][hapmap]
rs11942947	1.00[JPT][hapmap]
rs13101580	1.00[JPT][hapmap]
rs14278	1.00[JPT][hapmap]
rs17060409	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs17060445	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2332836	1.00[JPT][hapmap]
rs4695919	1.00[JPT][hapmap]
rs67875138	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67936635	1.00[ASN][1000 genomes]
rs72702228	0.95[AFR][1000 genomes]
rs72702234	1.00[ASN][1000 genomes]
rs72702236	1.00[ASN][1000 genomes]
rs72702242	1.00[ASN][1000 genomes]
rs72702244	1.00[ASN][1000 genomes]
rs72702246	1.00[ASN][1000 genomes]
rs72702249	1.00[ASN][1000 genomes]
rs72702250	1.00[ASN][1000 genomes]
rs72702258	1.00[ASN][1000 genomes]
rs73009476	1.00[ASN][1000 genomes]
rs7656298	1.00[ASN][1000 genomes]
rs7664501	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7681841	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7692518	1.00[ASW][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7697587	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]

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	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11555602	FBXO8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175202000-175207400	Active TSS	K562	blood
2	chr4:175202400-175206000	Active TSS	Stomach Smooth Muscle	stomach
3	chr4:175202400-175206000	Active TSS	GM12878-XiMat	blood
4	chr4:175202400-175206000	Active TSS	Hela-S3	cervix
5	chr4:175202800-175206400	Active TSS	NHLF	lung
6	chr4:175203000-175206400	Active TSS	NHDF-Ad	bronchial
7	chr4:175203200-175206200	Active TSS	HMEC	breast
8	chr4:175203400-175205600	Active TSS	Brain Hippocampus Middle	brain
9	chr4:175203400-175205600	Active TSS	Thymus	Thymus
10	chr4:175203400-175205800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:175203400-175205800	Active TSS	Fetal Brain Female	brain
12	chr4:175203400-175206000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:175203400-175206200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:175203400-175206200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:175203400-175206400	Active TSS	Right Atrium	heart
16	chr4:175203400-175206400	Active TSS	A549	lung
17	chr4:175203400-175207000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:175203600-175205400	Active TSS	Brain Angular Gyrus	brain
19	chr4:175203600-175205400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr4:175203600-175205600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:175203600-175205600	Active TSS	Colon Smooth Muscle	Colon
22	chr4:175203600-175205600	ZNF genes & repeats	Fetal Brain Male	brain
23	chr4:175203600-175205800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr4:175203600-175205800	Active TSS	Primary T cells fromperipheralblood	blood
25	chr4:175203600-175205800	Active TSS	Fetal Heart	heart
26	chr4:175203600-175205800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr4:175203600-175205800	Active TSS	Fetal Thymus	thymus
28	chr4:175203600-175206000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:175203600-175206000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:175203600-175206000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:175203600-175206000	Active TSS	Fetal Lung	lung
32	chr4:175203600-175206000	Active TSS	HSMM	muscle
33	chr4:175203600-175206200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:175203600-175206200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:175203600-175206200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:175203600-175206200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:175203600-175206200	Active TSS	Fetal Intestine Large	intestine
38	chr4:175203600-175206400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:175203800-175205400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr4:175203800-175205400	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr4:175203800-175205600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr4:175203800-175205600	Active TSS	Fetal Muscle Leg	muscle
43	chr4:175203800-175205600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:175203800-175205600	Active TSS	Rectal Smooth Muscle	rectum
45	chr4:175203800-175205600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:175203800-175205800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:175203800-175205800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:175203800-175205800	Active TSS	Brain Anterior Caudate	brain
49	chr4:175203800-175205800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr4:175203800-175205800	Active TSS	Fetal Kidney	kidney

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