Variant report

Variant	rs11953163
Chromosome Location	chr5:94417521-94417522
allele	C/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	POLR2A	chr5:94417019-94417524	GM12891	blood:	n/a	n/a
2	GTF2F1	chr5:94417097-94417546	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr5:94417202-94417800	GM12878	blood:	n/a	n/a
4	IKZF1	chr5:94417227-94417791	GM12878	blood:	n/a	chr5:94417685-94417693
5	EP300	chr5:94417025-94417857	GM12878	blood:	n/a	chr5:94417582-94417596 chr5:94417583-94417592
6	POLR2A	chr5:94417000-94417557	Hela-S3	cervix:	n/a	n/a
7	REST	chr5:94417090-94417620	HL-60	blood:	n/a	n/a
8	POLR2A	chr5:94416951-94417631	GM12892	blood:	n/a	n/a
9	CEBPB	chr5:94417286-94417574	HepG2	liver:	n/a	chr5:94417440-94417451 chr5:94417442-94417453
10	IRF4	chr5:94417028-94417618	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:94417057-94417661	GM12891	blood:	n/a	n/a
12	FOS	chr5:94417147-94417625	MCF10A-Er-Src	breast:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
13	FOS	chr5:94416858-94418100	MCF10A-Er-Src	breast:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
14	CHD2	chr5:94417188-94417732	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:94417048-94417555	GM12878	blood:	n/a	n/a
16	ATF2	chr5:94417108-94417622	GM12878	blood:	n/a	n/a
17	MAX	chr5:94417026-94418174	NB4	blood:	n/a	chr5:94418033-94418044
18	NFIC	chr5:94417146-94417721	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:94417117-94417574	SK-N-SH	brain:	n/a	n/a
20	STAT3	chr5:94416931-94417529	MCF10A-Er-Src	breast:	n/a	n/a
21	CHD1	chr5:94417032-94417599	GM12878	blood:	n/a	n/a
22	FOS	chr5:94417138-94417646	HUVEC	blood vessel:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
23	BATF	chr5:94417181-94417669	GM12878	blood:	n/a	chr5:94417400-94417411 chr5:94417401-94417411
24	RAD21	chr5:94417108-94417522	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:94416960-94417596	GM12878	blood:	n/a	n/a
26	FOS	chr5:94416930-94418172	MCF10A-Er-Src	breast:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
27	POLR2A	chr5:94417035-94417537	NB4	blood:	n/a	n/a
28	SP1	chr5:94417126-94417637	A549	lung:	n/a	n/a
29	CHD2	chr5:94417146-94418004	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:94417087-94418039	Raji	blood:	n/a	n/a
31	CEBPB	chr5:94417236-94417641	A549	lung:	n/a	chr5:94417440-94417451 chr5:94417442-94417453
32	POLR2A	chr5:94417117-94417581	GM12892	blood:	n/a	n/a
33	RCOR1	chr5:94417040-94417626	Hela-S3	cervix:	n/a	n/a
34	TAF1	chr5:94417052-94417558	Hela-S3	cervix:	n/a	n/a
35	ATF2	chr5:94417079-94417654	GM12878	blood:	n/a	n/a
36	SMC3	chr5:94417124-94417666	Hela-S3	cervix:	n/a	n/a
37	FOS	chr5:94416757-94418173	MCF10A-Er-Src	breast:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
38	FOS	chr5:94417219-94417567	Hela-S3	cervix:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
39	TBP	chr5:94416949-94417991	Hela-S3	cervix:	n/a	n/a
40	ETS1	chr5:94417173-94417626	A549	lung:	n/a	chr5:94417397-94417411 chr5:94417583-94417596
41	POLR2A	chr5:94417054-94417613	GM18951	blood:	n/a	n/a
42	SPI1	chr5:94417308-94417796	HL-60	blood:	n/a	n/a
43	TCF12	chr5:94417187-94417534	GM12878	blood:	n/a	n/a
44	EP300	chr5:94417034-94417713	SK-N-SH	brain:	n/a	chr5:94417582-94417596 chr5:94417583-94417592
45	MYC	chr5:94417106-94418168	NB4	blood:	n/a	chr5:94418033-94418044
46	CREB1	chr5:94417111-94417671	GM12878	blood:	n/a	n/a
47	CEBPB	chr5:94417113-94417675	HCT-116	colon:	n/a	chr5:94417440-94417451 chr5:94417442-94417453
48	JUND	chr5:94417134-94417639	Hela-S3	cervix:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
49	JUN	chr5:94417034-94418145	Hela-S3	cervix:	n/a	chr5:94417404-94417411 chr5:94417404-94417412
50	POLR2A	chr5:94416976-94417668	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186344996..186345598-chr5:94416998..94417779,2	Hela-S3	cervix:
2	chr12:92539205..92539926-chr5:94416821..94417672,2	Hela-S3	cervix:
3	chr15:44083909..44084801-chr5:94416865..94417602,2	Hela-S3	cervix:
4	chr12:27175398..27175923-chr5:94416981..94417595,2	NB4	blood:

Variant related genes	Relation type
MCTP1	TF binding region
ENSG00000245904	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000152944	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000157181	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2347481	0.93[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4869120	1.00[MEX][hapmap]
rs56819015	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6890984	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73140029	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73140031	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73140041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73140045	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73140046	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7728019	1.00[MEX][hapmap]
rs964248	1.00[MEX][hapmap]

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94407000-94423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:94413600-94418200	Active TSS	Brain Anterior Caudate	brain
3	chr5:94414200-94417800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr5:94414400-94417600	Active TSS	Duodenum Mucosa	Duodenum
5	chr5:94414600-94417600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:94415200-94417600	Active TSS	Primary monocytes fromperipheralblood	blood
7	chr5:94415600-94417800	Active TSS	Fetal Thymus	thymus
8	chr5:94415600-94417800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr5:94415600-94417800	Active TSS	HMEC	breast
10	chr5:94415800-94417600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:94415800-94417600	Active TSS	Fetal Muscle Leg	muscle
12	chr5:94415800-94417800	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:94415800-94417800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:94415800-94417800	Active TSS	Fetal Stomach	stomach
15	chr5:94415800-94417800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr5:94415800-94417800	Active TSS	Right Atrium	heart
17	chr5:94415800-94417800	Active TSS	Right Ventricle	heart
18	chr5:94415800-94418000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:94415800-94418000	Active TSS	Left Ventricle	heart
20	chr5:94415800-94418000	Active TSS	Psoas Muscle	Psoas
21	chr5:94416000-94417800	Active TSS	Brain Angular Gyrus	brain
22	chr5:94416000-94417800	Active TSS	Thymus	Thymus
23	chr5:94416200-94417600	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:94416200-94417600	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr5:94416200-94417600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:94416200-94417600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:94416200-94417600	Active TSS	NHDF-Ad	bronchial
28	chr5:94416200-94417800	Active TSS	Adipose Nuclei	Adipose
29	chr5:94416200-94418000	Active TSS	NH-A	brain
30	chr5:94416400-94417600	Active TSS	Brain Substantia Nigra	brain
31	chr5:94416400-94417800	Active TSS	Liver	Liver
32	chr5:94416600-94417600	Active TSS	Primary hematopoietic stem cells	blood
33	chr5:94416600-94417800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:94416800-94417800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:94416800-94418000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:94417000-94417600	Active TSS	Stomach Smooth Muscle	stomach
37	chr5:94417000-94417800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr5:94417000-94417800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr5:94417000-94417800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:94417000-94417800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:94417000-94417800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr5:94417000-94417800	Active TSS	Fetal Brain Female	brain
43	chr5:94417000-94418000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:94417000-94418000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr5:94417000-94418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:94417000-94418000	Enhancers	Fetal Lung	lung
47	chr5:94417000-94418000	Enhancers	HSMM	muscle
48	chr5:94417000-94418000	Active TSS	HSMMtube	muscle
49	chr5:94417000-94418200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:94417000-94418600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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