Variant report

Variant	rs35815414
Chromosome Location	chr11:10481139-10481140
allele	A/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	REST	chr11:10480687-10481257	PFSK-1	brain:	n/a	chr11:10481083-10481092
2	SMC3	chr11:10480695-10481208	GM12878	blood:	n/a	n/a
3	RUNX3	chr11:10480297-10481342	GM12878	blood:	n/a	n/a
4	SPI1	chr11:10480399-10481399	HL-60	blood:	n/a	chr11:10480649-10480662
5	SPI1	chr11:10480470-10481285	HL-60	blood:	n/a	chr11:10480649-10480662
6	REST	chr11:10480885-10481217	SK-N-SH	brain:	n/a	chr11:10481083-10481092
7	POLR2A	chr11:10480360-10481203	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:10480463-10481206	GM12892	blood:	n/a	n/a
9	RELA	chr11:10480414-10481279	GM12892	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
10	EBF1	chr11:10480440-10481143	GM12878	blood:	n/a	n/a
11	RELA	chr11:10480428-10481364	GM15510	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
12	CTCF	chr11:10481000-10481150	NB4	blood:	n/a	chr11:10481069-10481087
13	WRNIP1	chr11:10480413-10481402	GM12878	blood:	n/a	n/a
14	NFIC	chr11:10480334-10481155	GM12878	blood:	n/a	n/a
15	REST	chr11:10480970-10481263	ECC-1	luminal epithelium:	n/a	chr11:10481083-10481092
16	YY1	chr11:10480968-10481211	GM12878	blood:	n/a	n/a
17	REST	chr11:10480383-10481558	HL-60	blood:	n/a	chr11:10481083-10481092
18	MXI1	chr11:10480583-10481257	GM12878	blood:	n/a	n/a
19	RELA	chr11:10480381-10481323	GM19099	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
20	YY1	chr11:10480373-10481206	GM12892	blood:	n/a	n/a
21	MTA3	chr11:10480467-10481281	GM12878	blood:	n/a	n/a
22	SPI1	chr11:10480400-10481159	GM12878	blood:	n/a	chr11:10480649-10480662
23	SPI1	chr11:10480430-10481197	GM12891	blood:	n/a	chr11:10480649-10480662
24	POLR2A	chr11:10480436-10481187	GM12892	blood:	n/a	n/a
25	MAZ	chr11:10480459-10481241	GM12878	blood:	n/a	n/a
26	REST	chr11:10480961-10481173	K562	blood:	n/a	chr11:10481083-10481092
27	CHD2	chr11:10480334-10481150	GM12878	blood:	n/a	chr11:10480491-10480501
28	RELA	chr11:10480350-10481357	GM12891	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
29	REST	chr11:10480965-10481159	GM12878	blood:	n/a	chr11:10481083-10481092
30	REST	chr11:10480724-10481354	HL-60	blood:	n/a	chr11:10481083-10481092
31	MAZ	chr11:10480481-10481250	K562	blood:	n/a	n/a
32	YY1	chr11:10480931-10481154	K562	blood:	n/a	n/a
33	POLR2A	chr11:10480332-10481301	GM12892	blood:	n/a	n/a
34	REST	chr11:10480911-10481150	H1-hESC	embryonic stem cell:	n/a	chr11:10481083-10481092
35	RUNX3	chr11:10480380-10481324	GM12878	blood:	n/a	n/a
36	REST	chr11:10480897-10481275	K562	blood:	n/a	chr11:10481083-10481092
37	CTCF	chr11:10481040-10481190	HL-60	blood:	n/a	chr11:10481069-10481087
38	RELA	chr11:10480374-10481197	GM19193	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
39	RELA	chr11:10480270-10481178	GM18505	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
40	CTCF	chr11:10481000-10481150	HCFaa	heart:	n/a	chr11:10481069-10481087
41	REST	chr11:10480800-10481334	GM12878	blood:	n/a	chr11:10481083-10481092
42	RELA	chr11:10480413-10481399	GM10847	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
43	REST	chr11:10480986-10481157	Hela-S3	cervix:	n/a	chr11:10481083-10481092
44	REST	chr11:10480913-10481245	H1-hESC	embryonic stem cell:	n/a	chr11:10481083-10481092
45	REST	chr11:10480794-10481221	PFSK-1	brain:	n/a	chr11:10481083-10481092

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10477189..10479136-chr11:10480585..10482380,2	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11042825	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12184411	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4909933	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4909934	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4910140	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7109334	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110563	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7123980	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124144	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934278	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
2	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:10476400-10481400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:10476600-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:10476800-10482600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:10477000-10481400	Flanking Active TSS	Dnd41	blood
7	chr11:10477000-10481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:10477800-10489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:10478000-10487400	Weak transcription	HMEC	breast
12	chr11:10478200-10481200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:10478200-10482600	Weak transcription	Stomach Mucosa	stomach
14	chr11:10478200-10482600	Weak transcription	HSMMtube	muscle
15	chr11:10478200-10483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:10478200-10485800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:10478400-10482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:10478400-10483800	Weak transcription	Gastric	stomach
19	chr11:10478400-10484600	Weak transcription	Liver	Liver
20	chr11:10478400-10484800	Weak transcription	Osteobl	bone
21	chr11:10478400-10486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:10478400-10487200	Weak transcription	Fetal Intestine Large	intestine
23	chr11:10478400-10487400	Weak transcription	Right Ventricle	heart
24	chr11:10478400-10489000	Weak transcription	A549	lung
25	chr11:10478400-10500000	Weak transcription	Fetal Intestine Small	intestine
26	chr11:10478400-10502800	Weak transcription	Pancreas	Pancrea
27	chr11:10478600-10481600	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:10478600-10483400	Weak transcription	Colonic Mucosa	Colon
29	chr11:10478800-10482800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:10478800-10483000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:10478800-10493600	Weak transcription	HSMM	muscle
32	chr11:10478800-10511600	Weak transcription	Psoas Muscle	Psoas
33	chr11:10479000-10481200	Enhancers	Lung	lung
34	chr11:10479000-10502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:10479200-10481400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:10479200-10481400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:10479800-10482800	Enhancers	Brain Substantia Nigra	brain
38	chr11:10479800-10483200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:10479800-10483600	Weak transcription	Esophagus	oesophagus
40	chr11:10479800-10519400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:10480000-10481200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:10480000-10481400	Flanking Active TSS	K562	blood
43	chr11:10480000-10481400	Enhancers	NHEK	skin
44	chr11:10480000-10481600	Flanking Active TSS	GM12878-XiMat	blood
45	chr11:10480200-10481200	Enhancers	Brain Angular Gyrus	brain
46	chr11:10480200-10481400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:10480200-10481400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:10480200-10481400	Enhancers	Brain Anterior Caudate	brain
49	chr11:10480200-10481400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:10480200-10481400	Enhancers	Placenta	Placenta

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