Variant report

Variant	rs2452476
Chromosome Location	chr8:96282540-96282541
allele	C/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	MAFF	chr8:96281624-96282843	K562	blood:	n/a	n/a
2	ARID3A	chr8:96281485-96282681	K562	blood:	n/a	chr8:96282168-96282184
3	ZC3H11A	chr8:96281648-96282636	K562	blood:	n/a	n/a
4	POLR2A	chr8:96281057-96282699	PBDE	blood:	n/a	n/a
5	TEAD4	chr8:96280975-96282628	K562	blood:	n/a	n/a
6	NFIC	chr8:96281192-96282568	GM12878	blood:	n/a	n/a
7	STAT3	chr8:96281826-96282698	MCF10A-Er-Src	breast:	n/a	chr8:96282314-96282321
8	POLR2A	chr8:96280733-96282556	GM19099	blood:	n/a	n/a
9	MYC	chr8:96281180-96282587	K562	blood:	n/a	chr8:96281719-96281735 chr8:96281536-96281545
10	POLR2A	chr8:96282525-96282541	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:96280997-96282558	K562	blood:	n/a	n/a
12	TBP	chr8:96280709-96282768	H1-hESC	embryonic stem cell:	n/a	n/a
13	EP300	chr8:96281172-96282659	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:96280701-96282663	K562	blood:	n/a	n/a
15	BHLHE40	chr8:96280800-96282656	GM12878	blood:	n/a	n/a
16	YY1	chr8:96281022-96282742	SK-N-SH	brain:	n/a	chr8:96281242-96281253 chr8:96281193-96281202
17	POLR2A	chr8:96280589-96282721	K562	blood:	n/a	n/a
18	RELA	chr8:96280741-96282560	GM18951	blood:	n/a	n/a
19	MYC	chr8:96281374-96283039	MCF10A-Er-Src	breast:	n/a	chr8:96281719-96281735 chr8:96281536-96281545
20	BDP1	chr8:96281773-96282617	K562	blood:	n/a	n/a
21	MYC	chr8:96281105-96282619	K562	blood:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
22	TBP	chr8:96281092-96282584	GM12878	blood:	n/a	n/a
23	JUND	chr8:96280698-96283117	K562	blood:	n/a	n/a
24	POLR2A	chr8:96280373-96282594	HepG2	liver:	n/a	n/a
25	CEBPB	chr8:96281551-96282587	A549	lung:	n/a	chr8:96282246-96282257 chr8:96282248-96282259
26	GTF2F1	chr8:96280728-96282703	Hela-S3	cervix:	n/a	n/a
27	ELF1	chr8:96280639-96282725	MCF-7	breast:	n/a	chr8:96281105-96281114 chr8:96280967-96280979
28	RELA	chr8:96280915-96282726	GM15510	blood:	n/a	n/a
29	EP300	chr8:96281381-96282667	K562	blood:	n/a	n/a
30	POLR2A	chr8:96280718-96282591	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:96280733-96282754	K562	blood:	n/a	n/a
32	POLR2A	chr8:96280724-96282753	GM12891	blood:	n/a	n/a
33	UBTF	chr8:96282247-96282676	K562	blood:	n/a	n/a
34	ELK4	chr8:96281265-96282619	Hela-S3	cervix:	n/a	n/a
35	TEAD4	chr8:96281291-96282569	ECC-1	luminal epithelium:	n/a	n/a
36	STAT3	chr8:96281827-96282696	MCF10A-Er-Src	breast:	n/a	chr8:96282314-96282321
37	GTF3C2	chr8:96281248-96282896	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:96280711-96282691	GM12878	blood:	n/a	n/a
39	NR2F2	chr8:96280998-96282783	K562	blood:	n/a	n/a
40	POLR2A	chr8:96281014-96282748	Hela-S3	cervix:	n/a	n/a
41	PML	chr8:96280590-96282631	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:96280843-96282614	HL-60	blood:	n/a	n/a
43	CEBPB	chr8:96280417-96282718	Hela-S3	cervix:	n/a	chr8:96282246-96282257 chr8:96282248-96282259
44	BHLHE40	chr8:96280360-96282828	K562	blood:	n/a	n/a
45	SP1	chr8:96280571-96282547	A549	lung:	n/a	chr8:96281045-96281054 chr8:96281041-96281055 chr8:96281044-96281056 chr8:96281045-96281055 chr8:96281044-96281056
46	SP1	chr8:96280884-96282575	A549	lung:	n/a	chr8:96281045-96281054 chr8:96281041-96281055 chr8:96281044-96281056 chr8:96281045-96281055 chr8:96281044-96281056
47	MYC	chr8:96280790-96282631	NB4	blood:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
48	MXI1	chr8:96281142-96282590	GM12878	blood:	n/a	n/a
49	MAX	chr8:96280706-96282877	A549	lung:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
50	FOSL2	chr8:96281345-96282659	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:2033986..2034667-chr8:96282041..96282606,2	Hela-S3	cervix:
2	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
3	chr8:96140207..96143129-chr8:96281545..96283235,2	MCF-7	breast:
4	chr8:95651016..95653604-chr8:96280429..96282986,2	MCF-7	breast:
5	chr8:96262492..96264147-chr8:96281511..96283438,2	MCF-7	breast:
6	chr8:95834579..95836869-chr8:96281817..96284598,2	K562	blood:
7	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
8	chr8:96282451..96284903-chr8:96296240..96298528,2	K562	blood:
9	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
10	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
11	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
12	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
13	chr8:96044471..96047276-chr8:96280162..96282608,2	MCF-7	breast:
14	chr8:95960086..95962162-chr8:96280907..96282894,2	MCF-7	breast:
15	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
16	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
17	chr8:96266342..96268440-chr8:96282035..96284401,2	K562	blood:
18	chr2:97521965..97524958-chr8:96280956..96282974,2	MCF-7	breast:
19	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:

Variant related genes	Relation type
C8orf37	TF binding region
ENSG00000175895	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000127554	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000196408	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1492652	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2452475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514554	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap]
rs2514555	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2514557	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4492337	0.84[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs7835921	0.82[CEU][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023866	chr8:96273255-96306378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2452476	C8orf37	cis	cerebellum	SCAN
rs2452476	C8orf37	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96280200-96282800	Active TSS	Brain Germinal Matrix	brain
2	chr8:96280400-96282600	Active TSS	Duodenum Mucosa	Duodenum
3	chr8:96280400-96282600	Active TSS	Fetal Heart	heart
4	chr8:96280400-96282600	Active TSS	HMEC	breast
5	chr8:96280400-96282800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:96280400-96282800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:96280400-96282800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:96280400-96282800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:96280400-96282800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:96280400-96282800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:96280400-96282800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:96280400-96282800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:96280400-96282800	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:96280400-96282800	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:96280400-96282800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:96280400-96282800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:96280400-96282800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:96280400-96282800	Active TSS	Fetal Intestine Large	intestine
19	chr8:96280400-96282800	Active TSS	Fetal Kidney	kidney
20	chr8:96280400-96282800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:96280400-96282800	Active TSS	Fetal Lung	lung
22	chr8:96280400-96282800	Active TSS	Left Ventricle	heart
23	chr8:96280400-96282800	Active TSS	Psoas Muscle	Psoas
24	chr8:96280400-96282800	Active TSS	Rectal Smooth Muscle	rectum
25	chr8:96280400-96282800	Active TSS	Right Atrium	heart
26	chr8:96280400-96282800	Active TSS	A549	lung
27	chr8:96280400-96283000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr8:96280400-96283000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:96280400-96283000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr8:96280400-96283000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:96280400-96283000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:96280400-96283200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:96280400-96283200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:96280400-96283200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:96280600-96282600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:96280600-96282600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:96280600-96282600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:96280600-96282600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr8:96280600-96282600	Active TSS	Brain Substantia Nigra	brain
40	chr8:96280600-96282600	Active TSS	Lung	lung
41	chr8:96280600-96282600	Active TSS	Osteobl	bone
42	chr8:96280600-96282800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:96280600-96282800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:96280600-96282800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:96280600-96282800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:96280600-96282800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:96280600-96282800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:96280600-96282800	Active TSS	Aorta	Aorta
49	chr8:96280600-96282800	Active TSS	Brain Cingulate Gyrus	brain
50	chr8:96280600-96282800	Active TSS	Colon Smooth Muscle	Colon

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