Variant report

Variant	rs10751004
Chromosome Location	chr11:63741510-63741511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESRRA	chr11:63741505-63742754	GM12878	blood:	n/a	chr11:63742103-63742115
2	POU2F2	chr11:63741343-63742304	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:63741490-63742608	SK-N-MC	brain:	n/a	n/a
4	POU2F2	chr11:63741418-63742300	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:63741495-63742786	PFSK-1	brain:	n/a	n/a
6	SP1	chr11:63741502-63742699	HCT-116	colon:	n/a	chr11:63741931-63741942
7	MTA3	chr11:63741510-63742604	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:63741499-63742789	PANC-1	pancreas:	n/a	n/a
9	CHD1	chr11:63741480-63742828	IMR90	lung:	n/a	n/a
10	POLR2A	chr11:63741495-63742615	PANC-1	pancreas:	n/a	n/a
11	SIN3AK20	chr11:63741483-63742791	MCF-7	breast:	n/a	n/a
12	MAX	chr11:63741509-63742770	A549	lung:	n/a	n/a
13	POLR2A	chr11:63741433-63742717	GM12892	blood:	n/a	n/a
14	CBX3	chr11:63741423-63742254	K562	blood:	n/a	n/a
15	HCFC1	chr11:63741480-63742842	Hela-S3	cervix:	n/a	n/a
16	NR2F2	chr11:63741451-63742820	K562	blood:	n/a	n/a
17	SP1	chr11:63741502-63742708	HCT-116	colon:	n/a	chr11:63741931-63741942
18	CTCF	chr11:63741415-63741525	GM20000	blood:	n/a	n/a
19	POLR2A	chr11:63741214-63742545	HepG2	liver:	n/a	n/a
20	CBX3	chr11:63741399-63742662	K562	blood:	n/a	n/a
21	MXI1	chr11:63741404-63743150	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr11:63741504-63742587	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63448263..63450575-chr11:63740636..63743421,3	MCF-7	breast:
2	chr11:63739151..63744415-chr11:63752010..63756596,9	MCF-7	breast:
3	chr11:63740485..63742258-chr11:63973387..63975999,2	K562	blood:
4	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
5	chr11:63740468..63742451-chr11:63765485..63768295,3	K562	blood:

No data

Variant related genes	Relation type
COX8A	TF binding region
ENSG00000256100	TF binding region
ENSG00000167771	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10792424	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10897464	0.93[EUR][1000 genomes]
rs10897466	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10897467	0.81[EUR][1000 genomes]
rs10897468	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10897469	0.80[EUR][1000 genomes]
rs10897470	0.83[EUR][1000 genomes]
rs11231646	0.81[EUR][1000 genomes]
rs11231653	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231662	0.83[EUR][1000 genomes]
rs11231663	0.83[EUR][1000 genomes]
rs11231664	0.83[EUR][1000 genomes]
rs11231670	0.83[EUR][1000 genomes]
rs11231671	0.83[EUR][1000 genomes]
rs11600062	0.82[EUR][1000 genomes]
rs11601228	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11607028	0.93[EUR][1000 genomes]
rs12417157	0.84[EUR][1000 genomes]
rs12790749	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12798491	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12800703	0.83[EUR][1000 genomes]
rs12808604	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1386346	0.94[EUR][1000 genomes]
rs1684950	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1783964	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2129467	0.83[EUR][1000 genomes]
rs2508584	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3019782	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs320121	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs320156	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34134698	0.81[EUR][1000 genomes]
rs35492216	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3740636	0.93[EUR][1000 genomes]
rs4426138	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs479975	0.82[EUR][1000 genomes]
rs481835	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs483340	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs487540	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs488082	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs492357	0.83[EUR][1000 genomes]
rs4980501	0.80[EUR][1000 genomes]
rs4980512	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4980516	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4980517	0.82[EUR][1000 genomes]
rs499118	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs500493	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs502858	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs504060	0.82[EUR][1000 genomes]
rs504314	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs509701	0.80[EUR][1000 genomes]
rs528927	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs529915	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs539432	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs553724	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs562865	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs567386	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs578295	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6591830	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs709594	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7111130	0.81[EUR][1000 genomes]
rs728919	0.93[EUR][1000 genomes]
rs7926608	0.81[EUR][1000 genomes]
rs7928990	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7936614	0.81[EUR][1000 genomes]
rs7938498	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7942318	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7951529	0.93[EUR][1000 genomes]
rs9943474	0.88[AFR][1000 genomes]
rs9943682	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking 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	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63729600-63741600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:63738400-63741600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:63738600-63741600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:63738600-63742000	Weak transcription	Spleen	Spleen
5	chr11:63739000-63741600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:63739200-63741600	Weak transcription	K562	blood
7	chr11:63739400-63742000	Weak transcription	HepG2	liver
8	chr11:63741000-63743400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:63741200-63741600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:63741400-63741600	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:63741400-63741600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr11:63741400-63741600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr11:63741400-63741600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:63741400-63741600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:63741400-63741600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:63741400-63741600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:63741400-63741600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:63741400-63741600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:63741400-63741600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:63741400-63741600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:63741400-63741600	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:63741400-63741600	Enhancers	Fetal Thymus	thymus
23	chr11:63741400-63741600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:63741400-63741800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:63741400-63741800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:63741400-63741800	Enhancers	Primary T cells from cord blood	blood
27	chr11:63741400-63741800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:63741400-63742400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:63741400-63743000	Active TSS	Hela-S3	cervix
30	chr11:63741400-63743200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:63741400-63743200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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