Variant report

Variant	rs1876691
Chromosome Location	chr5:57878863-57878864
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	CREB1	chr5:57878510-57879229	HepG2	liver:	n/a	n/a
2	BACH1	chr5:57878731-57879161	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:57878800-57878950	AG04449	skin:	n/a	n/a
4	POLR2A	chr5:57877830-57879286	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr5:57877687-57879668	HL-60	blood:	n/a	chr5:57878892-57878901 chr5:57877884-57877897
6	SIX5	chr5:57878540-57878995	GM12878	blood:	n/a	chr5:57878834-57878843 chr5:57878780-57878789 chr5:57878832-57878841 chr5:57878782-57878791
7	FOXA1	chr5:57878579-57878986	T-47D	breast:	n/a	n/a
8	MAX	chr5:57878725-57879081	GM12878	blood:	n/a	n/a
9	CTCF	chr5:57878780-57878930	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr5:57878780-57878930	HBMEC	blood vessel:	n/a	n/a
11	REST	chr5:57878456-57879279	U87	brain:	n/a	chr5:57878892-57878901
12	REST	chr5:57878191-57879416	H1-hESC	embryonic stem cell:	n/a	chr5:57878892-57878901
13	MAX	chr5:57878458-57879253	HepG2	liver:	n/a	n/a
14	ZNF263	chr5:57877847-57879437	HEK293-T-REx	kidney:	n/a	n/a
15	EP300	chr5:57878751-57879066	SK-N-SH_RA	brain:	n/a	n/a
16	MAX	chr5:57878569-57879200	ECC-1	luminal epithelium:	n/a	n/a
17	REST	chr5:57878760-57878942	PANC-1	pancreas:	n/a	chr5:57878892-57878901
18	ETS1	chr5:57878496-57879046	A549	lung:	n/a	chr5:57878780-57878793 chr5:57878981-57878990 chr5:57878781-57878788 chr5:57878779-57878792 chr5:57878830-57878843 chr5:57878981-57878990 chr5:57878978-57878991 chr5:57878831-57878844
19	MAX	chr5:57878293-57879250	A549	lung:	n/a	n/a
20	REST	chr5:57878718-57878994	GM12878	blood:	n/a	chr5:57878892-57878901
21	ATF3	chr5:57878689-57879001	HepG2	liver:	n/a	n/a
22	REST	chr5:57878536-57879246	HepG2	liver:	n/a	chr5:57878892-57878901
23	CREB1	chr5:57878555-57879175	HepG2	liver:	n/a	n/a
24	USF2	chr5:57878845-57879021	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr5:57878274-57879276	MCF-7	breast:	n/a	n/a
26	NRF1	chr5:57878720-57878993	GM12878	blood:	n/a	n/a
27	MAX	chr5:57878640-57879143	HepG2	liver:	n/a	n/a
28	TAF1	chr5:57878780-57879202	H1-neurons	neurons:	n/a	n/a
29	REST	chr5:57878034-57879450	ECC-1	luminal epithelium:	n/a	chr5:57878892-57878901
30	NRF1	chr5:57878486-57879421	SK-N-SH	brain:	n/a	n/a
31	SIN3AK20	chr5:57878490-57879275	MCF-7	breast:	n/a	n/a
32	TBL1XR1	chr5:57878705-57878947	GM12878	blood:	n/a	n/a
33	STAT3	chr5:57878761-57878929	MCF10A-Er-Src	breast:	n/a	chr5:57878806-57878817
34	ZNF143	chr5:57877890-57879243	H1-hESC	embryonic stem cell:	n/a	chr5:57878834-57878843 chr5:57878782-57878791 chr5:57878780-57878789 chr5:57878832-57878850 chr5:57878773-57878791
35	MXI1	chr5:57878550-57879663	IMR90	lung:	n/a	n/a
36	CTCF	chr5:57878766-57878887	Kidney_OC	kidney:	n/a	n/a
37	MYC	chr5:57878654-57879036	MCF-7	breast:	n/a	n/a
38	CREB1	chr5:57878682-57878976	A549	lung:	n/a	n/a
39	REST	chr5:57878620-57879306	SK-N-SH	brain:	n/a	chr5:57878892-57878901
40	REST	chr5:57878580-57879180	U87	brain:	n/a	chr5:57878892-57878901
41	E2F4	chr5:57878677-57878949	MCF10A-Er-Src	breast:	n/a	chr5:57878878-57878888
42	USF1	chr5:57878656-57878931	SK-N-SH_RA	brain:	n/a	n/a
43	RCOR1	chr5:57878707-57879167	HepG2	liver:	n/a	n/a
44	GATA3	chr5:57878437-57879053	T-47D	breast:	n/a	n/a
45	KAP1	chr5:57878016-57878957	U2OS	brain:	n/a	n/a
46	CREB1	chr5:57878716-57879070	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr5:57878780-57878930	HMEC	breast:	n/a	n/a
48	YY1	chr5:57878651-57878983	GM12878	blood:	n/a	n/a
49	REST	chr5:57878089-57879485	SK-N-SH	brain:	n/a	chr5:57878892-57878901
50	REST	chr5:57877532-57879771	H1-neurons	neurons:	n/a	chr5:57878892-57878901 chr5:57877884-57877897

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:57878853-57878903	HCM	heart:	n/a
2	chr5:57878853-57878903	HRCEpiC	kidney:	n/a
3	chr5:57878853-57878903	GM12878	blood:	n/a
4	chr5:57878853-57878903	Jurkat	blood:	n/a
5	chr5:57878853-57878903	MCF-7	breast:	n/a
6	chr5:57878853-57878903	NHDF-neo	bronchial:	n/a
7	chr5:57878853-57878903	AG04450	lung:	fetal
8	chr5:57878853-57878903	K562	blood:	n/a
9	chr5:57878853-57878903	HRPEpiC	eye:	n/a
10	chr5:57878853-57878903	HRE	kidney:	n/a
11	chr5:57878853-57878903	SK-N-SH	brain:	n/a
12	chr5:57878853-57878903	HepG2	liver:	n/a
13	chr5:57878853-57878903	Hepatocyte	liver:	n/a
14	chr5:57878853-57878903	GM19239	blood:	n/a
15	chr5:57878853-57878903	ECC-1	luminal epithelium:	n/a
16	chr5:57878853-57878903	BE2_C	brain:	n/a
17	chr5:57878853-57878903	AG04449	skin:	fetal
18	chr5:57878853-57878903	AG10803	skin:	n/a
19	chr5:57878853-57878903	ovcar-3	ovarian:	n/a
20	chr5:57878853-57878903	GM12892	blood:	n/a
21	chr5:57878853-57878903	NHBE	bronchial:	n/a
22	chr5:57878853-57878903	BJ	skin:	n/a
23	chr5:57878853-57878903	Caco-2	colon:	n/a
24	chr5:57878853-57878903	NT2-D1	testis:	n/a
25	chr5:57878853-57878903	AoSMC	blood vessel:	n/a
26	chr5:57878853-57878903	HCT-116	colon:	n/a
27	chr5:57878853-57878903	PANC-1	pancreas:	n/a
28	chr5:57878853-57878903	SAEC	small airway:	n/a
29	chr5:57878853-57878903	SKMC	muscle:	n/a
30	chr5:57878853-57878903	A549	lung:	n/a
31	chr5:57878853-57878903	PFSK-1	brain:	n/a
32	chr5:57878853-57878903	HNPCEpiC	eye:	n/a
33	chr5:57878853-57878903	GM06990	blood:	n/a
34	chr5:57878853-57878903	SK-N-SH_RA	brain:	n/a
35	chr5:57878853-57878903	IMR90	lung:	fetal
36	chr5:57878853-57878903	AG09309	skin:	n/a
37	chr5:57878853-57878903	MCF10A-Er-Src	breast:	n/a
38	chr5:57878853-57878903	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:57878853-57878903	HIPEpiC	eye:	n/a
40	chr5:57878853-57878903	HAEpiC	amniotic membrane:	n/a
41	chr5:57878853-57878903	HEK293	kidney:	embryo
42	chr5:57878853-57878903	T-47D	breast:	n/a
43	chr5:57878853-57878903	HEEpiC	esophagus:	n/a
44	chr5:57878853-57878903	HL-60	blood:	n/a
45	chr5:57878853-57878903	NB4	blood:	n/a
46	chr5:57878853-57878903	ProgFib	skin:	n/a
47	chr5:57878853-57878903	CMK	blood:	n/a
48	chr5:57878853-57878903	H1-hESC	embryonic stem cell:	embryo
49	chr5:57878853-57878903	HMEC	breast:	n/a
50	chr5:57878853-57878903	Hela-S3	cervix:	n/a

Variant related genes	Relation type
RAB3C	TF binding region
RAB3C	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11948948	0.83[AMR][1000 genomes]
rs12516344	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap]
rs1609728	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1848514	0.83[AMR][1000 genomes]
rs2201293	1.00[CHD][hapmap]
rs4700300	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55696051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57401667	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6450482	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6450483	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68028103	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72758200	0.83[AMR][1000 genomes]
rs72760204	0.83[AMR][1000 genomes]
rs72760224	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7728552	1.00[CEU][hapmap]
rs7728642	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1876691	IPO11	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57877400-57879200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:57877400-57880000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:57877600-57879400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr5:57877600-57879600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr5:57877600-57879600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:57877600-57880000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:57877600-57880000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:57877600-57880400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:57877800-57879000	Active TSS	Pancreas	Pancrea
10	chr5:57877800-57879000	Active TSS	Right Atrium	heart
11	chr5:57877800-57879200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:57877800-57879200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:57877800-57879200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:57877800-57879200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr5:57877800-57879200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr5:57877800-57879200	Active TSS	Rectal Smooth Muscle	rectum
17	chr5:57877800-57879400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:57877800-57879400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:57877800-57879400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:57877800-57879400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:57877800-57879400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
22	chr5:57877800-57879400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr5:57877800-57879400	Active TSS	Brain Angular Gyrus	brain
24	chr5:57877800-57879400	Active TSS	Fetal Brain Female	brain
25	chr5:57877800-57879600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:57877800-57879600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:57877800-57879600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:57877800-57879600	Flanking Active TSS	Right Ventricle	heart
29	chr5:57877800-57879600	Enhancers	Spleen	Spleen
30	chr5:57877800-57879800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:57878000-57879000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr5:57878000-57879200	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr5:57878000-57879200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:57878000-57879200	Bivalent/Poised TSS	Stomach Mucosa	stomach
35	chr5:57878000-57879200	Active TSS	HSMMtube	muscle
36	chr5:57878000-57879400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:57878000-57879400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr5:57878000-57879600	Flanking Active TSS	Liver	Liver
39	chr5:57878200-57879000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:57878200-57879000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:57878200-57879000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
42	chr5:57878200-57879200	Active TSS	Fetal Kidney	kidney
43	chr5:57878200-57879200	Active TSS	Fetal Lung	lung
44	chr5:57878200-57879400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:57878200-57879400	Active TSS	Fetal Intestine Large	intestine
46	chr5:57878200-57879400	Bivalent/Poised TSS	GM12878-XiMat	blood
47	chr5:57878200-57879400	Active TSS	NHDF-Ad	bronchial
48	chr5:57878200-57879400	Bivalent/Poised TSS	NHLF	lung
49	chr5:57878200-57879400	Flanking Active TSS	Osteobl	bone
50	chr5:57878200-57879600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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