Variant report

Variant	rs2618432
Chromosome Location	chr8:11324482-11324483
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	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	POLR2A	chr8:11323788-11324489	A549	lung:	n/a	n/a
3	ZNF143	chr8:11324087-11324621	H1-hESC	embryonic stem cell:	n/a	chr8:11324114-11324124 chr8:11324438-11324448
4	MAX	chr8:11323999-11324705	ECC-1	luminal epithelium:	n/a	chr8:11324177-11324187
5	RFX5	chr8:11324244-11324853	GM12878	blood:	n/a	chr8:11324318-11324331 chr8:11324316-11324332 chr8:11324317-11324331
6	RELA	chr8:11323910-11324878	GM18505	blood:	n/a	chr8:11324105-11324114 chr8:11324105-11324114
7	ZBTB33	chr8:11324221-11324587	GM12878	blood:	n/a	chr8:11324441-11324451
8	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
9	ZNF143	chr8:11324321-11324491	K562	blood:	n/a	chr8:11324438-11324448
10	CEBPB	chr8:11324131-11324504	IMR90	lung:	n/a	n/a
11	BCL11A	chr8:11324299-11324584	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:11323736-11325343	GM12892	blood:	n/a	n/a
13	NFATC1	chr8:11324293-11324870	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr8:11323968-11324518	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr8:11324253-11324739	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:11323814-11325276	GM15510	blood:	n/a	n/a
17	EBF1	chr8:11323932-11325363	GM12878	blood:	n/a	n/a
18	MAFK	chr8:11324309-11324502	IMR90	lung:	n/a	n/a
19	TEAD4	chr8:11324168-11324606	H1-hESC	embryonic stem cell:	n/a	n/a
20	EGR1	chr8:11324285-11324482	K562	blood:	n/a	n/a
21	SMC3	chr8:11324098-11325549	GM12878	blood:	n/a	chr8:11325540-11325547 chr8:11325260-11325274
22	CEBPB	chr8:11324082-11324530	MCF-7	breast:	n/a	n/a
23	HMGN3	chr8:11324012-11324778	K562	blood:	n/a	n/a
24	POLR2A	chr8:11323740-11324754	U87	brain:	n/a	n/a
25	BCLAF1	chr8:11324052-11324629	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
26	MAX	chr8:11323725-11325464	A549	lung:	n/a	chr8:11324177-11324187
27	RAD21	chr8:11324256-11324537	SK-N-SH_RA	brain:	n/a	n/a
28	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
29	REST	chr8:11323745-11324751	H1-neurons	neurons:	n/a	n/a
30	ATF2	chr8:11324173-11324549	H1-hESC	embryonic stem cell:	n/a	chr8:11324301-11324315
31	POLR2A	chr8:11323865-11325192	GM12878	blood:	n/a	n/a
32	POU2F2	chr8:11324028-11324671	GM12891	blood:	n/a	chr8:11324176-11324188 chr8:11324230-11324242
33	NFIC	chr8:11324257-11324691	GM12878	blood:	n/a	n/a
34	ZBTB33	chr8:11324179-11324571	HCT-116	colon:	n/a	chr8:11324441-11324451
35	CEBPB	chr8:11323996-11324592	A549	lung:	n/a	n/a
36	CEBPB	chr8:11324162-11324514	HepG2	liver:	n/a	n/a
37	MAX	chr8:11323666-11325569	A549	lung:	n/a	chr8:11324177-11324187
38	POU2F2	chr8:11324223-11324769	GM12891	blood:	n/a	chr8:11324230-11324242
39	POLR2A	chr8:11323748-11325296	GM18505	blood:	n/a	n/a
40	SIN3A	chr8:11323870-11325352	GM12878	blood:	n/a	chr8:11324432-11324445
41	STAT5A	chr8:11324042-11324497	GM12878	blood:	n/a	n/a
42	CREB1	chr8:11323786-11324782	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:11323836-11324605	H1-neurons	neurons:	n/a	n/a
44	MXI1	chr8:11320819-11325738	SK-N-SH	brain:	n/a	chr8:11321457-11321466 chr8:11321457-11321466
45	MTA3	chr8:11324298-11324736	GM12878	blood:	n/a	n/a
46	MAZ	chr8:11323027-11324777	IMR90	lung:	n/a	chr8:11324177-11324187
47	EP300	chr8:11323912-11324763	GM12878	blood:	n/a	chr8:11324115-11324124 chr8:11324071-11324080
48	POLR2A	chr8:11323850-11325241	GM19193	blood:	n/a	n/a
49	MAX	chr8:11324225-11324577	K562	blood:	n/a	n/a
50	MAX	chr8:11324010-11324670	ECC-1	luminal epithelium:	n/a	chr8:11324177-11324187

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11324446-11324496	ECC-1	luminal epithelium:	n/a
2	chr8:11324446-11324496	HRCEpiC	kidney:	n/a
3	chr8:11324446-11324496	HCM	heart:	n/a
4	chr8:11324448-11324498	K562	blood:	n/a
5	chr8:11324448-11324498	MCF-7	breast:	n/a
6	chr8:11324446-11324496	AG04450	lung:	fetal
7	chr8:11324446-11324496	HL-60	blood:	n/a
8	chr8:11324446-11324496	GM19239	blood:	n/a
9	chr8:11324448-11324498	GM12878	blood:	n/a
10	chr8:11324448-11324498	HRPEpiC	eye:	n/a
11	chr8:11324446-11324496	SKMC	muscle:	n/a
12	chr8:11324446-11324496	SK-N-MC	brain:	n/a
13	chr8:11324446-11324496	ProgFib	skin:	n/a
14	chr8:11324448-11324498	NH-A	brain:	n/a
15	chr8:11324448-11324498	Caco-2	colon:	n/a
16	chr8:11324448-11324498	Hela-S3	cervix:	n/a
17	chr8:11324446-11324496	HEEpiC	esophagus:	n/a
18	chr8:11324448-11324498	HCT-116	colon:	n/a
19	chr8:11324446-11324496	HRE	kidney:	n/a
20	chr8:11324446-11324496	SK-N-SH	brain:	n/a
21	chr8:11324448-11324498	RPTEC	kidney:	n/a
22	chr8:11324448-11324498	PANC-1	pancreas:	n/a
23	chr8:11324448-11324498	SKMC	muscle:	n/a
24	chr8:11324446-11324496	HCPEpiC	choroid plexus:	n/a
25	chr8:11324448-11324498	NHBE	bronchial:	n/a
26	chr8:11324446-11324496	CMK	blood:	n/a
27	chr8:11324446-11324496	NHDF-neo	bronchial:	n/a
28	chr8:11324448-11324498	H1-hESC	embryonic stem cell:	embryo
29	chr8:11324446-11324496	SK-N-SH_RA	brain:	n/a
30	chr8:11324446-11324496	RPTEC	kidney:	n/a
31	chr8:11324448-11324498	AG04449	skin:	fetal
32	chr8:11324446-11324496	AG04449	skin:	fetal
33	chr8:11324446-11324496	HPAEpiC	pulmonary alveolar:	n/a
34	chr8:11324446-11324496	H1-hESC	embryonic stem cell:	embryo
35	chr8:11324446-11324496	Caco-2	colon:	n/a
36	chr8:11324448-11324498	HMEC	breast:	n/a
37	chr8:11324448-11324498	AoSMC	blood vessel:	n/a
38	chr8:11324446-11324496	GM12891	blood:	n/a
39	chr8:11324446-11324496	HNPCEpiC	eye:	n/a
40	chr8:11324448-11324498	SK-N-SH_RA	brain:	n/a
41	chr8:11324446-11324496	BJ	skin:	n/a
42	chr8:11324448-11324498	ProgFib	skin:	n/a
43	chr8:11324448-11324498	HCPEpiC	choroid plexus:	n/a
44	chr8:11324446-11324496	GM12892	blood:	n/a
45	chr8:11324446-11324496	ovcar-3	ovarian:	n/a
46	chr8:11324446-11324496	PrEC	prostate:	n/a
47	chr8:11324446-11324496	HepG2	liver:	n/a
48	chr8:11324448-11324498	SK-N-SH	brain:	n/a
49	chr8:11324448-11324498	A549	lung:	n/a
50	chr8:11324448-11324498	MCF10A-Er-Src	breast:	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: 0)

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

rs_ID	r²[population]
rs11250138	0.82[ASN][1000 genomes]
rs2618431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618433	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618475	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736319	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736320	0.94[ASN][1000 genomes]
rs34801597	0.80[ASN][1000 genomes]
rs6601592	1.00[AMR][1000 genomes];0.99[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

No data

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	chr8:11322000-11324600	Active TSS	Brain Cingulate Gyrus	brain
3	chr8:11322400-11325400	Active TSS	Brain Anterior Caudate	brain
4	chr8:11323000-11324600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:11323000-11324800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr8:11323000-11324800	Active TSS	Brain Substantia Nigra	brain
7	chr8:11323000-11325200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:11323000-11325200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr8:11323000-11325400	Active TSS	Brain Angular Gyrus	brain
10	chr8:11323000-11325400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr8:11323200-11324800	Flanking Active TSS	Lung	lung
12	chr8:11323200-11325200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:11323200-11325200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:11323200-11325200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr8:11323400-11324600	Active TSS	HSMM	muscle
16	chr8:11323400-11324800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:11323400-11325200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:11323400-11325400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr8:11323400-11325400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr8:11323600-11324600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:11323600-11324600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:11323600-11324600	Active TSS	Primary T cells from cord blood	blood
23	chr8:11323600-11324600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:11323600-11324800	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr8:11323600-11325200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr8:11323600-11325200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr8:11323600-11325400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr8:11323600-11325400	Active TSS	A549	lung
29	chr8:11323800-11324600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:11323800-11324600	Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:11323800-11324600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr8:11323800-11324600	Active TSS	Esophagus	oesophagus
33	chr8:11323800-11324600	Active TSS	Placenta Amnion	Placenta Amnion
34	chr8:11323800-11324600	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr8:11323800-11324600	Active TSS	Small Intestine	intestine
36	chr8:11323800-11324800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:11323800-11324800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:11323800-11324800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:11323800-11324800	Active TSS	Ovary	ovary
40	chr8:11323800-11325000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:11323800-11325000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:11323800-11325000	Active TSS	Fetal Kidney	kidney
43	chr8:11323800-11325200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:11323800-11325200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:11323800-11325200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr8:11323800-11325200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr8:11323800-11325200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:11323800-11325200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:11323800-11325200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:11323800-11325200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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