Variant report

Variant	rs2618433
Chromosome Location	chr8:11324704-11324705
allele	A/G
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	CTCF	chr8:11322867-11325851	SK-N-SH	brain:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11324181-11324194 chr8:11324805-11324814 chr8:11325235-11325248 chr8:11325261-11325271 chr8:11325761-11325774
2	MAX	chr8:11323999-11324705	ECC-1	luminal epithelium:	n/a	chr8:11324177-11324187
3	RFX5	chr8:11324244-11324853	GM12878	blood:	n/a	chr8:11324318-11324331 chr8:11324316-11324332 chr8:11324317-11324331
4	RELA	chr8:11323910-11324878	GM18505	blood:	n/a	chr8:11324105-11324114 chr8:11324105-11324114
5	YY1	chr8:11323906-11325481	GM12878	blood:	n/a	chr8:11324063-11324077 chr8:11324176-11324185 chr8:11324072-11324086 chr8:11325120-11325134 chr8:11324078-11324087 chr8:11324429-11324443 chr8:11324112-11324121 chr8:11324073-11324087
6	CTCF	chr8:11324640-11324790	GM12872	blood:	n/a	n/a
7	POLR2A	chr8:11323736-11325343	GM12892	blood:	n/a	n/a
8	NFATC1	chr8:11324293-11324870	GM12878	blood:	n/a	n/a
9	CTCF	chr8:11324620-11324770	NHEK	skin:	n/a	n/a
10	BRCA1	chr8:11324253-11324739	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11323814-11325276	GM15510	blood:	n/a	n/a
12	EBF1	chr8:11323932-11325363	GM12878	blood:	n/a	n/a
13	SMC3	chr8:11324098-11325549	GM12878	blood:	n/a	chr8:11325540-11325547 chr8:11325260-11325274
14	HMGN3	chr8:11324012-11324778	K562	blood:	n/a	n/a
15	POLR2A	chr8:11323740-11324754	U87	brain:	n/a	n/a
16	MAX	chr8:11323725-11325464	A549	lung:	n/a	chr8:11324177-11324187
17	BCLAF1	chr8:11323892-11324893	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
18	REST	chr8:11323745-11324751	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr8:11323865-11325192	GM12878	blood:	n/a	n/a
20	CTCF	chr8:11324560-11324710	WERI-Rb-1	eye:	n/a	n/a
21	E2F4	chr8:11324637-11324799	GM12878	blood:	n/a	n/a
22	MAX	chr8:11323666-11325569	A549	lung:	n/a	chr8:11324177-11324187
23	POU2F2	chr8:11324223-11324769	GM12891	blood:	n/a	chr8:11324230-11324242
24	POLR2A	chr8:11323748-11325296	GM18505	blood:	n/a	n/a
25	SIN3A	chr8:11323870-11325352	GM12878	blood:	n/a	chr8:11324432-11324445
26	CREB1	chr8:11323786-11324782	GM12878	blood:	n/a	n/a
27	MXI1	chr8:11320819-11325738	SK-N-SH	brain:	n/a	chr8:11321457-11321466 chr8:11321457-11321466
28	MTA3	chr8:11324298-11324736	GM12878	blood:	n/a	n/a
29	MAZ	chr8:11323027-11324777	IMR90	lung:	n/a	chr8:11324177-11324187
30	EP300	chr8:11323912-11324763	GM12878	blood:	n/a	chr8:11324115-11324124 chr8:11324071-11324080
31	CTCF	chr8:11324560-11324710	AG04450	lung:	n/a	n/a
32	POLR2A	chr8:11323850-11325241	GM19193	blood:	n/a	n/a
33	SMC3	chr8:11323020-11326094	SK-N-SH	brain:	n/a	chr8:11325540-11325547 chr8:11325260-11325274
34	ELF1	chr8:11323106-11325341	GM12878	blood:	n/a	chr8:11324074-11324086 chr8:11324208-11324220 chr8:11324115-11324124
35	POLR2A	chr8:11323645-11325076	U87	brain:	n/a	n/a
36	CTCF	chr8:11324660-11324810	GM12874	blood:	n/a	n/a
37	ZEB1	chr8:11324031-11324819	GM12878	blood:	n/a	n/a
38	BACH1	chr8:11324297-11324869	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAZ	chr8:11323852-11324737	GM12878	blood:	n/a	chr8:11324177-11324187
40	CTCF	chr8:11324680-11324830	BJ	skin:	n/a	chr8:11324805-11324814
41	CTCF	chr8:11324633-11324744	Spleen_OC	spleen:	n/a	n/a
42	POLR2A	chr8:11324534-11324712	A549	lung:	n/a	n/a
43	RAD21	chr8:11321163-11325705	SK-N-SH	brain:	n/a	chr8:11325260-11325270 chr8:11325262-11325271 chr8:11325259-11325272 chr8:11323362-11323375 chr8:11324217-11324230 chr8:11325258-11325270 chr8:11325256-11325275
44	STAT1	chr8:11324030-11325439	GM12878	blood:	n/a	n/a
45	MAX	chr8:11324703-11324721	HepG2	liver:	n/a	n/a
46	FOXM1	chr8:11323852-11325597	GM12878	blood:	n/a	n/a
47	RUNX3	chr8:11323719-11325461	GM12878	blood:	n/a	n/a
48	EP300	chr8:11321103-11325629	SK-N-SH	brain:	n/a	chr8:11324115-11324124 chr8:11321227-11321234 chr8:11323313-11323326 chr8:11324071-11324080 chr8:11321851-11321867
49	POLR2A	chr8:11323743-11325442	Raji	blood:	n/a	n/a
50	POLR2A	chr8:11324446-11325013	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11324666-11324716	SK-N-SH	brain:	n/a
2	chr8:11324666-11324716	MCF10A-Er-Src	breast:	n/a
3	chr8:11324666-11324716	HEK293	kidney:	embryo
4	chr8:11324687-11324737	Jurkat	blood:	n/a
5	chr8:11324687-11324737	HepG2	liver:	n/a
6	chr8:11324687-11324737	U87	brain:	n/a
7	chr8:11324666-11324716	SAEC	small airway:	n/a
8	chr8:11324687-11324737	HCPEpiC	choroid plexus:	n/a
9	chr8:11324666-11324716	GM12892	blood:	n/a
10	chr8:11324666-11324716	LNCaP	prostate:	n/a
11	chr8:11324687-11324737	HRPEpiC	eye:	n/a
12	chr8:11324666-11324716	HUVEC	blood vessel:	n/a
13	chr8:11324666-11324716	GM19239	blood:	n/a
14	chr8:11324666-11324716	HNPCEpiC	eye:	n/a
15	chr8:11324666-11324716	ovcar-3	ovarian:	n/a
16	chr8:11324666-11324716	ECC-1	luminal epithelium:	n/a
17	chr8:11324666-11324716	NH-A	brain:	n/a
18	chr8:11324687-11324737	SK-N-SH_RA	brain:	n/a
19	chr8:11324687-11324737	HCT-116	colon:	n/a
20	chr8:11324666-11324716	Caco-2	colon:	n/a
21	chr8:11324666-11324716	PFSK-1	brain:	n/a
22	chr8:11324687-11324737	HMEC	breast:	n/a
23	chr8:11324666-11324716	HCF	heart:	n/a
24	chr8:11324687-11324737	AG09309	skin:	n/a
25	chr8:11324687-11324737	AoSMC	blood vessel:	n/a
26	chr8:11324666-11324716	NHDF-neo	bronchial:	n/a
27	chr8:11324666-11324716	HepG2	liver:	n/a
28	chr8:11324666-11324716	SK-N-MC	brain:	n/a
29	chr8:11324687-11324737	ovcar-3	ovarian:	n/a
30	chr8:11324687-11324737	AG04449	skin:	fetal
31	chr8:11324687-11324737	Hepatocyte	liver:	n/a
32	chr8:11324687-11324737	AG10803	skin:	n/a
33	chr8:11324666-11324716	HL-60	blood:	n/a
34	chr8:11324687-11324737	ProgFib	skin:	n/a
35	chr8:11324687-11324737	HEK293	kidney:	embryo
36	chr8:11324687-11324737	NB4	blood:	n/a
37	chr8:11324687-11324737	SAEC	small airway:	n/a
38	chr8:11324666-11324716	PrEC	prostate:	n/a
39	chr8:11324666-11324716	NB4	blood:	n/a
40	chr8:11324666-11324716	A549	lung:	n/a
41	chr8:11324687-11324737	HIPEpiC	eye:	n/a
42	chr8:11324687-11324737	GM12891	blood:	n/a
43	chr8:11324687-11324737	PANC-1	pancreas:	n/a
44	chr8:11324666-11324716	HIPEpiC	eye:	n/a
45	chr8:11324666-11324716	HCT-116	colon:	n/a
46	chr8:11324687-11324737	CMK	blood:	n/a
47	chr8:11324687-11324737	H1-hESC	embryonic stem cell:	embryo
48	chr8:11324687-11324737	HCF	heart:	n/a
49	chr8:11324687-11324737	SK-N-SH	brain:	n/a
50	chr8:11324666-11324716	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
2	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
3	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:

Variant related genes	Relation type
FAM167A	TF binding region
FAM167A	CpG island
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11250138	0.82[ASN][1000 genomes]
rs2618431	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618432	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618475	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736319	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736320	0.94[ASN][1000 genomes]
rs34801597	0.80[ASN][1000 genomes]
rs6601592	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2618433	FAM167A	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11321600-11325200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:11322400-11325400	Active TSS	Brain Anterior Caudate	brain
3	chr8:11323000-11324800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
4	chr8:11323000-11324800	Active TSS	Brain Substantia Nigra	brain
5	chr8:11323000-11325200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:11323000-11325200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:11323000-11325400	Active TSS	Brain Angular Gyrus	brain
8	chr8:11323000-11325400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr8:11323200-11324800	Flanking Active TSS	Lung	lung
10	chr8:11323200-11325200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:11323200-11325200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:11323200-11325200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr8:11323400-11324800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:11323400-11325200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:11323400-11325400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr8:11323400-11325400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr8:11323600-11324800	Flanking Bivalent TSS/Enh	Dnd41	blood
18	chr8:11323600-11325200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr8:11323600-11325200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr8:11323600-11325400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr8:11323600-11325400	Active TSS	A549	lung
22	chr8:11323800-11324800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:11323800-11324800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:11323800-11324800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:11323800-11324800	Active TSS	Ovary	ovary
26	chr8:11323800-11325000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:11323800-11325000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:11323800-11325000	Active TSS	Fetal Kidney	kidney
29	chr8:11323800-11325200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:11323800-11325200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:11323800-11325200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:11323800-11325200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr8:11323800-11325200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:11323800-11325200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:11323800-11325200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr8:11323800-11325200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:11323800-11325200	Flanking Active TSS	Liver	Liver
38	chr8:11323800-11325200	Active TSS	HSMMtube	muscle
39	chr8:11323800-11325400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr8:11323800-11325400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:11323800-11325400	Flanking Active TSS	HMEC	breast
42	chr8:11323800-11325400	Active TSS	NHDF-Ad	bronchial
43	chr8:11323800-11325600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:11324000-11324800	Active TSS	Aorta	Aorta
45	chr8:11324000-11324800	Active TSS	Spleen	Spleen
46	chr8:11324000-11325000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:11324000-11325000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
48	chr8:11324000-11325000	Active TSS	Left Ventricle	heart
49	chr8:11324000-11325200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:11324000-11325200	Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links