Variant report

Variant	rs10484453
Chromosome Location	chr6:11382714-11382715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr6:11381903-11382722	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:11380547-11382764	GM12891	blood:	n/a	n/a
3	MAX	chr6:11381840-11382814	ECC-1	luminal epithelium:	n/a	n/a
4	CHD2	chr6:11382038-11383025	GM12878	blood:	n/a	n/a
5	POU2F2	chr6:11382067-11382837	GM12891	blood:	n/a	n/a
6	SIN3A	chr6:11382073-11382722	GM12878	blood:	n/a	n/a
7	EP300	chr6:11382241-11382895	GM12878	blood:	n/a	chr6:11382622-11382636
8	CUX1	chr6:11382108-11382722	GM12878	blood:	n/a	n/a
9	RELA	chr6:11381897-11382779	GM18951	blood:	n/a	n/a
10	RELA	chr6:11382052-11382856	GM19099	blood:	n/a	n/a
11	POLR2A	chr6:11381633-11382804	GM12891	blood:	n/a	n/a
12	ATF2	chr6:11380713-11382943	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:11382053-11382734	GM12892	blood:	n/a	n/a
14	TBL1XR1	chr6:11381345-11382816	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:11380038-11383141	GM19099	blood:	n/a	n/a
16	BRCA1	chr6:11382218-11382777	GM12878	blood:	n/a	n/a
17	IRF4	chr6:11381982-11382861	GM12878	blood:	n/a	n/a
18	NFIC	chr6:11382007-11382902	GM12878	blood:	n/a	n/a
19	MTA3	chr6:11380500-11383286	GM12878	blood:	n/a	n/a
20	REST	chr6:11382129-11382765	HL-60	blood:	n/a	n/a
21	RELA	chr6:11381971-11382966	GM12878	blood:	n/a	n/a
22	PML	chr6:11381558-11382903	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:11381266-11382788	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr6:11379909-11383412	GM12878	blood:	n/a	n/a
25	BCLAF1	chr6:11381744-11382800	GM12878	blood:	n/a	n/a
26	SP1	chr6:11382115-11382828	GM12878	blood:	n/a	chr6:11382244-11382253
27	TAF1	chr6:11381956-11382759	GM12878	blood:	n/a	n/a
28	MXI1	chr6:11381839-11383063	GM12878	blood:	n/a	n/a
29	MTA3	chr6:11382099-11383070	GM12878	blood:	n/a	n/a
30	BHLHE40	chr6:11381314-11382995	GM12878	blood:	n/a	n/a
31	BCL3	chr6:11382113-11382764	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:11381560-11382836	GM12892	blood:	n/a	n/a
33	TEAD4	chr6:11381813-11382843	ECC-1	luminal epithelium:	n/a	n/a
34	STAT5A	chr6:11382069-11382731	GM12878	blood:	n/a	n/a
35	POU2F2	chr6:11382072-11382739	GM12878	blood:	n/a	n/a
36	GABPA	chr6:11382068-11382884	HL-60	blood:	n/a	n/a
37	CEBPB	chr6:11381784-11382952	GM12878	blood:	n/a	n/a
38	MAX	chr6:11381992-11382795	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr6:11381754-11382718	GM12891	blood:	n/a	n/a
40	POLR2A	chr6:11380566-11382867	GM12892	blood:	n/a	n/a
41	TBP	chr6:11381365-11382916	GM12878	blood:	n/a	n/a
42	TEAD4	chr6:11381923-11382732	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr6:11380276-11383061	GM18951	blood:	n/a	n/a
44	POLR2A	chr6:11381667-11382774	GM12892	blood:	n/a	n/a
45	RELA	chr6:11381812-11382856	GM15510	blood:	n/a	n/a
46	NFATC1	chr6:11381984-11382845	GM12878	blood:	n/a	n/a
47	STAT1	chr6:11381883-11383015	GM12878	blood:	n/a	chr6:11382852-11382859
48	POLR2A	chr6:11379853-11383656	GM12878	blood:	n/a	n/a
49	BCLAF1	chr6:11381744-11382826	GM12878	blood:	n/a	n/a
50	FOXM1	chr6:11382031-11382885	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:11382675-11382725	ovcar-3	ovarian:	n/a
2	chr6:11382675-11382725	RPTEC	kidney:	n/a
3	chr6:11382675-11382725	SKMC	muscle:	n/a
4	chr6:11382675-11382725	SAEC	small airway:	n/a
5	chr6:11382675-11382725	GM06990	blood:	n/a
6	chr6:11382675-11382725	PFSK-1	brain:	n/a
7	chr6:11382675-11382725	Hela-S3	cervix:	n/a
8	chr6:11382675-11382725	HRCEpiC	kidney:	n/a
9	chr6:11382675-11382725	Jurkat	blood:	n/a
10	chr6:11382675-11382725	HRPEpiC	eye:	n/a
11	chr6:11382675-11382725	AoSMC	blood vessel:	n/a
12	chr6:11382675-11382725	AG09309	skin:	n/a
13	chr6:11382675-11382725	HepG2	liver:	n/a
14	chr6:11382675-11382725	MCF10A-Er-Src	breast:	n/a
15	chr6:11382675-11382725	BJ	skin:	n/a
16	chr6:11382675-11382725	MCF-7	breast:	n/a
17	chr6:11382675-11382725	HEEpiC	esophagus:	n/a
18	chr6:11382675-11382725	HAEpiC	amniotic membrane:	n/a
19	chr6:11382675-11382725	GM19239	blood:	n/a
20	chr6:11382675-11382725	AG04449	skin:	fetal
21	chr6:11382675-11382725	PANC-1	pancreas:	n/a
22	chr6:11382675-11382725	Caco-2	colon:	n/a
23	chr6:11382675-11382725	K562	blood:	n/a
24	chr6:11382675-11382725	LNCaP	prostate:	n/a
25	chr6:11382675-11382725	CMK	blood:	n/a
26	chr6:11382675-11382725	HEK293	kidney:	embryo
27	chr6:11382675-11382725	HMEC	breast:	n/a
28	chr6:11382675-11382725	GM12891	blood:	n/a
29	chr6:11382675-11382725	AG10803	skin:	n/a
30	chr6:11382675-11382725	NT2-D1	testis:	n/a
31	chr6:11382675-11382725	HRE	kidney:	n/a
32	chr6:11382675-11382725	HPAEpiC	pulmonary alveolar:	n/a
33	chr6:11382675-11382725	HIPEpiC	eye:	n/a
34	chr6:11382675-11382725	PrEC	prostate:	n/a
35	chr6:11382675-11382725	GM12892	blood:	n/a
36	chr6:11382675-11382725	NHDF-neo	bronchial:	n/a
37	chr6:11382675-11382725	SK-N-SH_RA	brain:	n/a
38	chr6:11382675-11382725	AG04450	lung:	fetal
39	chr6:11382675-11382725	A549	lung:	n/a
40	chr6:11382675-11382725	SK-N-MC	brain:	n/a
41	chr6:11382675-11382725	HNPCEpiC	eye:	n/a
42	chr6:11382675-11382725	NB4	blood:	n/a
43	chr6:11382675-11382725	T-47D	breast:	n/a
44	chr6:11382675-11382725	HCPEpiC	choroid plexus:	n/a
45	chr6:11382675-11382725	HCF	heart:	n/a
46	chr6:11382675-11382725	Hepatocyte	liver:	n/a
47	chr6:11382675-11382725	H1-hESC	embryonic stem cell:	embryo
48	chr6:11382675-11382725	ECC-1	luminal epithelium:	n/a
49	chr6:11382675-11382725	IMR90	lung:	fetal
50	chr6:11382675-11382725	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11229690..11234119-chr6:11380884..11384431,5	MCF-7	breast:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484454	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs12524463	0.92[ASN][1000 genomes]
rs12525329	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12525704	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12525719	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12526759	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];0.96[ASN][1000 genomes]
rs12527813	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16871291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16871294	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];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16871306	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607428	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903648	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6935901	0.83[YRI][hapmap]
rs73366863	0.92[ASN][1000 genomes]
rs73722961	0.85[ASN][1000 genomes]
rs7742703	0.92[ASN][1000 genomes]
rs7752886	0.92[ASN][1000 genomes]
rs7760294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs926314	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11377800-11386600	Weak transcription	HepG2	liver
2	chr6:11380000-11383200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:11380600-11382800	Active TSS	GM12878-XiMat	blood
4	chr6:11380600-11383400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr6:11380800-11382800	Active TSS	Duodenum Mucosa	Duodenum
6	chr6:11381000-11383000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr6:11381000-11383200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:11381200-11382800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr6:11381200-11383000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr6:11381200-11383200	Flanking Active TSS	Dnd41	blood
11	chr6:11381400-11383000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:11381600-11382800	Active TSS	Thymus	Thymus
13	chr6:11381600-11383000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:11382000-11382800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr6:11382400-11382800	Active TSS	Primary T cells fromperipheralblood	blood
16	chr6:11382400-11382800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:11382400-11383200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr6:11382400-11384200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:11382400-11384400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:11382600-11382800	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr6:11382600-11382800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:11382600-11383000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:11382600-11383000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:11382600-11383200	Enhancers	Primary hematopoietic stem cells	blood
25	chr6:11382600-11383200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr6:11382600-11383200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr6:11382600-11383200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:11382600-11383200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:11382600-11383200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr6:11382600-11383200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:11382600-11383200	Weak transcription	Small Intestine	intestine
32	chr6:11382600-11383200	Enhancers	Spleen	Spleen
33	chr6:11382600-11383400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:11382600-11383400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:11382600-11383600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr6:11382600-11383600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:11382600-11383600	Enhancers	Fetal Thymus	thymus
38	chr6:11382600-11384200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:11382600-11384800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:11382600-11386800	Weak transcription	Colonic Mucosa	Colon
41	chr6:11382600-11389400	Weak transcription	Lung	lung
42	chr6:11382600-11392400	Weak transcription	Right Atrium	heart

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