Variant report

Variant	rs61890315
Chromosome Location	chr11:10428859-10428860
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	FOS	chr11:10428579-10428985	MCF10A-Er-Src	breast:	n/a	chr11:10428772-10428783
2	MXI1	chr11:10428604-10428979	Hela-S3	cervix:	n/a	n/a
3	MYC	chr11:10428333-10429040	MCF10A-Er-Src	breast:	n/a	n/a
4	SP1	chr11:10428423-10429064	A549	lung:	n/a	n/a
5	EP300	chr11:10427209-10429313	SK-N-SH	brain:	n/a	chr11:10428417-10428426 chr11:10427808-10427816
6	RAD21	chr11:10426934-10429717	SK-N-SH	brain:	n/a	chr11:10427853-10427862 chr11:10427853-10427865 chr11:10427852-10427865 chr11:10427849-10427868 chr11:10427271-10427280
7	FOXA1	chr11:10428481-10429105	A549	lung:	n/a	n/a
8	SPI1	chr11:10428622-10428916	K562	blood:	n/a	chr11:10428811-10428824
9	TCF12	chr11:10428437-10429347	SK-N-SH	brain:	n/a	n/a
10	CEBPD	chr11:10428407-10428939	K562	blood:	n/a	n/a
11	E2F4	chr11:10428607-10428997	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr11:10428492-10429107	SK-N-SH_RA	brain:	n/a	n/a
13	GTF2F1	chr11:10428570-10428944	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr11:10428568-10428908	Hela-S3	cervix:	n/a	n/a
15	NR3C1	chr11:10428535-10429165	A549	lung:	n/a	n/a
16	BRCA1	chr11:10428471-10428867	Hela-S3	cervix:	n/a	n/a
17	GATA2	chr11:10428555-10429025	SH-SY5Y	brain:	n/a	n/a
18	STAT3	chr11:10428659-10428953	MCF10A-Er-Src	breast:	n/a	n/a
19	FOSL2	chr11:10428616-10428929	HepG2	liver:	n/a	n/a
20	EP300	chr11:10428473-10428966	Hela-S3	cervix:	n/a	n/a
21	EP300	chr11:10428393-10429053	A549	lung:	n/a	chr11:10428417-10428426
22	USF1	chr11:10428540-10429031	A549	lung:	n/a	n/a
23	FOSL2	chr11:10428552-10428965	A549	lung:	n/a	n/a
24	MAX	chr11:10428433-10429075	A549	lung:	n/a	n/a
25	JUND	chr11:10428634-10429037	A549	lung:	n/a	chr11:10428772-10428783
26	EP300	chr11:10428418-10429225	SK-N-SH	brain:	n/a	n/a
27	CEBPD	chr11:10428491-10428859	K562	blood:	n/a	n/a
28	STAT3	chr11:10428461-10428933	MCF10A-Er-Src	breast:	n/a	n/a
29	GATA3	chr11:10428396-10429266	SK-N-SH	brain:	n/a	n/a
30	TCF12	chr11:10428398-10429163	A549	lung:	n/a	n/a
31	RAD21	chr11:10428528-10428944	Hela-S3	cervix:	n/a	n/a
32	GATA3	chr11:10428338-10429198	SK-N-SH	brain:	n/a	n/a
33	FOS	chr11:10427753-10429032	MCF10A-Er-Src	breast:	n/a	chr11:10428772-10428783
34	MAX	chr11:10428407-10429138	A549	lung:	n/a	n/a
35	HDAC2	chr11:10428490-10428971	K562	blood:	n/a	n/a
36	JUND	chr11:10428579-10428949	Hela-S3	cervix:	n/a	chr11:10428772-10428783
37	FOSL2	chr11:10428396-10429162	A549	lung:	n/a	n/a
38	GATA3	chr11:10428286-10429134	A549	lung:	n/a	n/a
39	POLR2A	chr11:10428754-10428933	MCF10A-Er-Src	breast:	n/a	n/a
40	TEAD4	chr11:10428376-10428960	K562	blood:	n/a	n/a
41	PBX3	chr11:10428461-10429298	SK-N-SH	brain:	n/a	n/a
42	NR3C1	chr11:10428532-10429124	A549	lung:	n/a	n/a
43	FOS	chr11:10428415-10429042	MCF10A-Er-Src	breast:	n/a	chr11:10428772-10428783
44	CEBPB	chr11:10428481-10428944	Hela-S3	cervix:	n/a	n/a
45	GATA3	chr11:10428486-10428868	SH-SY5Y	brain:	n/a	n/a
46	FOSL2	chr11:10428519-10429141	SK-N-SH	brain:	n/a	n/a
47	STAT3	chr11:10428528-10428938	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr11:10428531-10428968	K562	blood:	n/a	n/a
49	NR3C1	chr11:10428576-10429084	A549	lung:	n/a	n/a
50	GABPA	chr11:10428537-10428925	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10428535..10430173-chr11:10471249..10473167,2	MCF-7	breast:
2	chr11:10427808..10432250-chr11:10475440..10478017,5	K562	blood:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11603317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604905	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606153	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608047	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34095660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34656088	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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	nsv1037131	chr11:10401998-10429998	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553477	chr11:10403539-10429998	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10415600-10436000	Weak transcription	Right Ventricle	heart
2	chr11:10420400-10429400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:10422200-10430800	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:10423000-10430400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:10423000-10430600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:10423200-10429200	Weak transcription	Lung	lung
7	chr11:10423800-10430600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:10425000-10429000	Weak transcription	Placenta	Placenta
9	chr11:10427200-10429000	Enhancers	Adipose Nuclei	Adipose
10	chr11:10427200-10429000	Enhancers	NHLF	lung
11	chr11:10427200-10431000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:10427200-10431200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:10427200-10432600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:10427400-10429200	Enhancers	Osteobl	bone
15	chr11:10427400-10429400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:10427400-10429800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:10427400-10431200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:10427400-10431400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:10427400-10432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:10427400-10432800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:10427600-10429200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:10427600-10429200	Weak transcription	Spleen	Spleen
23	chr11:10427600-10429600	Enhancers	HUVEC	blood vessel
24	chr11:10427600-10429800	Enhancers	NHEK	skin
25	chr11:10427600-10430600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:10427600-10432800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:10427800-10429400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:10427800-10429600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:10427800-10429600	Enhancers	K562	blood
30	chr11:10427800-10429600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:10427800-10429800	Enhancers	HMEC	breast
32	chr11:10427800-10430800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:10427800-10435000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:10427800-10435200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:10427800-10436000	Weak transcription	HSMMtube	muscle
36	chr11:10428000-10429200	Weak transcription	Pancreas	Pancrea
37	chr11:10428000-10429200	Enhancers	HSMM	muscle
38	chr11:10428000-10429400	Weak transcription	Fetal Thymus	thymus
39	chr11:10428000-10429400	Weak transcription	Ovary	ovary
40	chr11:10428000-10429600	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:10428000-10430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:10428000-10431000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:10428200-10429000	Flanking Active TSS	A549	lung
44	chr11:10428200-10429000	Enhancers	NH-A	brain
45	chr11:10428200-10429200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr11:10428200-10429200	Enhancers	Hela-S3	cervix
47	chr11:10428200-10429800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:10428200-10430800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:10428200-10435200	Weak transcription	Dnd41	blood
50	chr11:10428400-10429200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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