Variant report

Variant	rs55832112
Chromosome Location	chr8:61821997-61821998
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	chr8:61821990-61822562	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:61821780-61823258	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:61821252-61822003	SK-N-MC	brain:	n/a	n/a
4	MEF2A	chr8:61821901-61822730	GM12878	blood:	n/a	n/a
5	REST	chr8:61821275-61822015	PFSK-1	brain:	n/a	chr8:61821427-61821437 chr8:61821431-61821444
6	BCL11A	chr8:61821961-61822740	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822627-61822640
7	POLR2A	chr8:61821768-61823231	GM12892	blood:	n/a	n/a
8	POU2F2	chr8:61821828-61822774	GM12878	blood:	n/a	chr8:61822386-61822398
9	CUX1	chr8:61821988-61822280	GM12878	blood:	n/a	n/a
10	RELA	chr8:61820909-61822664	GM18505	blood:	n/a	n/a
11	CHD1	chr8:61821666-61822904	GM12878	blood:	n/a	n/a
12	FOXM1	chr8:61821102-61822782	GM12878	blood:	n/a	n/a
13	RELA	chr8:61821870-61822402	GM12878	blood:	n/a	n/a
14	BHLHE40	chr8:61821969-61823247	GM12878	blood:	n/a	chr8:61822963-61822979
15	EP300	chr8:61821548-61822008	K562	blood:	n/a	n/a
16	POU2F2	chr8:61821886-61822731	GM12891	blood:	n/a	chr8:61822386-61822398
17	TEAD4	chr8:61821480-61822009	K562	blood:	n/a	n/a
18	RELA	chr8:61821079-61822731	GM12891	blood:	n/a	n/a
19	RELA	chr8:61821146-61822670	GM19099	blood:	n/a	n/a
20	SP1	chr8:61821858-61822777	GM12878	blood:	n/a	chr8:61822560-61822572 chr8:61822562-61822571
21	POLR2A	chr8:61821229-61823401	GM19099	blood:	n/a	n/a
22	MTA3	chr8:61821108-61823501	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:61821261-61822053	PFSK-1	brain:	n/a	n/a
24	PAX5	chr8:61821913-61822740	GM12878	blood:	n/a	chr8:61822440-61822449
25	POLR2A	chr8:61821884-61822767	GM12892	blood:	n/a	n/a
26	STAT3	chr8:61821441-61822223	MCF10A-Er-Src	breast:	n/a	chr8:61821865-61821877
27	MAX	chr8:61821969-61823362	GM12878	blood:	n/a	n/a
28	MTA3	chr8:61821543-61822758	GM12878	blood:	n/a	n/a
29	MEF2C	chr8:61821902-61822753	GM12878	blood:	n/a	n/a
30	EBF1	chr8:61821924-61823004	GM12878	blood:	n/a	n/a
31	MAX	chr8:61821362-61823159	NB4	blood:	n/a	n/a
32	TAF1	chr8:61821867-61822739	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:61821252-61823354	GM18526	blood:	n/a	n/a
34	RELA	chr8:61821232-61822690	GM19193	blood:	n/a	n/a
35	ATF2	chr8:61821261-61822386	GM12878	blood:	n/a	n/a
36	GATA2	chr8:61821476-61822342	HUVEC	blood vessel:	n/a	chr8:61821717-61821726 chr8:61821817-61821824 chr8:61821720-61821729 chr8:61821815-61821824
37	POLR2A	chr8:61821191-61822651	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr8:61821355-61823142	GM12892	blood:	n/a	n/a
39	RELA	chr8:61821442-61822607	GM15510	blood:	n/a	n/a
40	SPI1	chr8:61821423-61822083	HL-60	blood:	n/a	n/a
41	POLR2A	chr8:61820812-61826736	GM12878	blood:	n/a	n/a
42	CEBPB	chr8:61821869-61822783	GM12878	blood:	n/a	chr8:61821891-61821903
43	PAX5	chr8:61821866-61822858	GM12878	blood:	n/a	chr8:61822440-61822449
44	NR2F2	chr8:61821642-61822469	K562	blood:	n/a	chr8:61821845-61821860
45	STAT3	chr8:61821481-61822210	MCF10A-Er-Src	breast:	n/a	chr8:61821865-61821877
46	BCLAF1	chr8:61821990-61823104	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
47	BCLAF1	chr8:61821250-61823386	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
48	FOXM1	chr8:61821814-61823271	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:61821153-61823143	GM19193	blood:	n/a	n/a
50	NR2F2	chr8:61821507-61822504	K562	blood:	n/a	chr8:61821845-61821860

Variant related genes	Relation type
ENSG00000254777	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504321	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680914	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680923	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12682244	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926576	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926582	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4123861	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4609230	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55792263	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57065489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58187777	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58610284	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59503990	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61356857	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61525594	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652548	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652549	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652550	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7819622	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3327831	chr8:61821423-61824171	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61819000-61822000	Weak transcription	Lung	lung
2	chr8:61819000-61822200	Weak transcription	Gastric	stomach
3	chr8:61820800-61822000	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:61821000-61822000	Enhancers	Brain Angular Gyrus	brain
6	chr8:61821000-61822000	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:61821000-61822200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr8:61821000-61822200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr8:61821000-61822400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr8:61821200-61822000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:61821200-61822000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr8:61821200-61822000	Enhancers	Fetal Lung	lung
22	chr8:61821200-61822000	Weak transcription	Small Intestine	intestine
23	chr8:61821200-61822200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:61821200-61822200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:61821200-61822200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr8:61821200-61822200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:61821200-61822200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr8:61821200-61822200	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr8:61821200-61822200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr8:61821200-61822200	Enhancers	HSMMtube	muscle
31	chr8:61821200-61822200	Enhancers	K562	blood
32	chr8:61821200-61822400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr8:61821200-61822400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr8:61821200-61822400	Enhancers	Dnd41	blood
35	chr8:61821200-61822600	Active TSS	Right Atrium	heart
36	chr8:61821200-61822800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr8:61821200-61823200	Enhancers	Spleen	Spleen
38	chr8:61821200-61823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr8:61821200-61823400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
41	chr8:61821400-61822000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:61821400-61822000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr8:61821400-61822000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:61821400-61822000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:61821400-61822000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:61821400-61822000	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr8:61821400-61822000	Enhancers	Fetal Brain Male	brain
48	chr8:61821400-61822000	Weak transcription	Fetal Kidney	kidney
49	chr8:61821400-61822200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:61821400-61822200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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