Variant report

Variant	rs72832932
Chromosome Location	chr6:11386921-11386922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr6:11386538-11387072	GM12878	blood:	n/a	n/a
2	NFIC	chr6:11386463-11387245	GM12878	blood:	n/a	n/a
3	ATF2	chr6:11386445-11387032	GM12878	blood:	n/a	n/a
4	RUNX3	chr6:11386481-11386929	GM12878	blood:	n/a	n/a
5	IRF4	chr6:11386453-11387024	GM12878	blood:	n/a	chr6:11386718-11386732
6	PAX5	chr6:11386458-11387046	GM12878	blood:	n/a	n/a
7	EP300	chr6:11386511-11387194	GM12878	blood:	n/a	chr6:11386546-11386560
8	BCL11A	chr6:11386493-11386987	GM12878	blood:	n/a	n/a
9	POU2F2	chr6:11386454-11387025	GM12878	blood:	n/a	n/a
10	RELA	chr6:11386536-11387179	GM19099	blood:	n/a	n/a
11	STAT1	chr6:11386772-11386988	GM12878	blood:	n/a	n/a
12	PML	chr6:11386364-11387087	GM12878	blood:	n/a	n/a
13	STAT5A	chr6:11386510-11386940	GM12878	blood:	n/a	n/a
14	IRF4	chr6:11386456-11387000	GM12878	blood:	n/a	chr6:11386718-11386732
15	RELA	chr6:11386545-11386936	GM18951	blood:	n/a	n/a
16	MEF2A	chr6:11386470-11387036	GM12878	blood:	n/a	n/a
17	NFIC	chr6:11386365-11387082	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:11386523-11387002	GM12892	blood:	n/a	n/a
19	POU2F2	chr6:11386500-11386925	GM12891	blood:	n/a	n/a
20	BCLAF1	chr6:11386429-11386969	GM12878	blood:	n/a	n/a
21	ATF2	chr6:11386449-11387082	GM12878	blood:	n/a	n/a
22	CEBPB	chr6:11386471-11387071	GM12878	blood:	n/a	n/a
23	EP300	chr6:11386546-11386988	GM12878	blood:	n/a	chr6:11386546-11386560
24	MTA3	chr6:11386460-11386977	GM12878	blood:	n/a	n/a
25	MXI1	chr6:11386508-11386960	GM12878	blood:	n/a	n/a
26	STAT5A	chr6:11386451-11386972	GM12878	blood:	n/a	n/a
27	TCF3	chr6:11386497-11386958	GM12878	blood:	n/a	n/a
28	BHLHE40	chr6:11386484-11387114	GM12878	blood:	n/a	n/a
29	NFATC1	chr6:11386524-11387233	GM12878	blood:	n/a	n/a
30	RELA	chr6:11386511-11386927	GM18505	blood:	n/a	n/a
31	TCF12	chr6:11386559-11386943	GM12878	blood:	n/a	n/a
32	FOXM1	chr6:11386412-11387022	GM12878	blood:	n/a	n/a
33	FOXA1	chr6:11386869-11387318	HepG2	liver:	n/a	n/a
34	MTA3	chr6:11386411-11387063	GM12878	blood:	n/a	n/a
35	EBF1	chr6:11386506-11386951	GM12878	blood:	n/a	n/a
36	SPI1	chr6:11386586-11386921	GM12891	blood:	n/a	n/a
37	RUNX3	chr6:11386415-11387013	GM12878	blood:	n/a	n/a
38	BCLAF1	chr6:11386442-11387085	GM12878	blood:	n/a	n/a
39	RELA	chr6:11386590-11387215	GM15510	blood:	n/a	n/a
40	FOXM1	chr6:11386483-11387018	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11356402..11359256-chr6:11386897..11390575,4	MCF-7	breast:
2	chr6:11385040..11387245-chr6:11401910..11404147,2	K562	blood:
3	chr6:11229965..11235177-chr6:11385041..11393111,14	MCF-7	breast:
4	chr6:11342539..11346028-chr6:11385686..11392115,8	MCF-7	breast:
5	chr6:11384266..11387041-chr6:11387793..11390164,2	MCF-7	breast:
6	chr6:11386757..11389915-chr6:11410069..11412647,3	MCF-7	breast:

No data

Variant related genes	Relation type
NEDD9	TF binding region
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1012503	0.86[EUR][1000 genomes]
rs10947217	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11751505	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11756278	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12661807	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17507230	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4074864	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4318876	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4713459	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4713474	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713475	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713478	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55918622	0.90[ASN][1000 genomes]
rs56144403	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56155385	0.90[ASN][1000 genomes]
rs56317766	0.90[ASN][1000 genomes]
rs56711429	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59349836	0.90[ASN][1000 genomes]
rs61650802	0.90[ASN][1000 genomes]
rs6901538	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72832925	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72832935	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72832944	0.90[ASN][1000 genomes]
rs73366900	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7740502	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11382600-11389400	Weak transcription	Lung	lung
2	chr6:11382600-11392400	Weak transcription	Right Atrium	heart
3	chr6:11383200-11388600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:11383200-11390200	Weak transcription	Spleen	Spleen
5	chr6:11383400-11388000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:11383400-11392600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:11383600-11387000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:11383600-11393000	Weak transcription	Small Intestine	intestine
9	chr6:11383800-11392600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:11384000-11388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr6:11385200-11389200	Enhancers	Primary B cells from cord blood	blood
12	chr6:11385200-11389800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:11385600-11390400	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:11385800-11388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:11385800-11393400	Weak transcription	Aorta	Aorta
16	chr6:11386000-11388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:11386000-11393600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:11386200-11387400	Flanking Active TSS	GM12878-XiMat	blood
19	chr6:11386600-11387000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:11386600-11387200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:11386600-11387200	Enhancers	Stomach Mucosa	stomach
22	chr6:11386600-11387400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:11386600-11387400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:11386600-11389400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:11386600-11389400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:11386600-11392200	Enhancers	HepG2	liver
27	chr6:11386800-11387000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:11386800-11387200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:11386800-11387200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:11386800-11387200	Enhancers	Colonic Mucosa	Colon
31	chr6:11386800-11387200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr6:11386800-11389600	Weak transcription	Placenta Amnion	Placenta Amnion

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