Variant report

Variant	rs2230648
Chromosome Location	chr11:57099661-57099662
allele	A/C/G/T
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	POLR2A	chr11:57099279-57099899	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:57099406-57099896	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57098801..57100774-chr11:58345554..58347054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238692	TF binding region
ENSG00000110031	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12785770	0.85[AMR][1000 genomes]
rs12786396	1.00[ASN][1000 genomes]
rs12787728	0.85[AMR][1000 genomes]
rs12788046	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12797375	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12798121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799582	0.85[AMR][1000 genomes]
rs12800182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800196	0.85[AMR][1000 genomes]
rs12801000	0.85[AMR][1000 genomes]
rs12802096	0.85[AMR][1000 genomes]
rs12803405	0.85[AMR][1000 genomes]
rs12804022	0.85[AMR][1000 genomes]
rs12806656	1.00[ASN][1000 genomes]
rs12806978	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12807593	0.85[AMR][1000 genomes]
rs12808193	0.85[AMR][1000 genomes]
rs12808784	0.85[AMR][1000 genomes]
rs12808788	1.00[ASN][1000 genomes]
rs17151841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34014874	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34069781	0.85[AMR][1000 genomes]
rs34076116	0.85[AMR][1000 genomes]
rs34085089	0.85[AMR][1000 genomes]
rs34177110	0.85[AMR][1000 genomes]
rs34498883	0.85[AMR][1000 genomes]
rs34505638	0.85[AMR][1000 genomes]
rs34544917	0.85[AMR][1000 genomes]
rs34555300	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572680	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34704777	0.85[AMR][1000 genomes]
rs34754262	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34761603	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769912	0.85[AMR][1000 genomes]
rs34850337	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35272228	0.85[AMR][1000 genomes]
rs35284031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35388927	0.85[AMR][1000 genomes]
rs35407832	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566323	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35707583	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35721601	0.85[AMR][1000 genomes]
rs35818468	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35943801	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35950335	0.85[AMR][1000 genomes]
rs35980006	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35991636	0.85[AMR][1000 genomes]
rs36090449	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484432	0.85[AMR][1000 genomes]
rs71484433	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484434	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484435	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484436	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484437	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484440	0.85[AMR][1000 genomes]
rs71484441	0.85[AMR][1000 genomes]
rs71484443	0.91[EUR][1000 genomes]
rs71484444	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484445	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484446	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57093200-57101600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57093200-57102800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:57093400-57102000	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr11:57093600-57101400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:57093600-57101600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:57093600-57102000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57093800-57100400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:57093800-57100600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:57093800-57100800	Strong transcription	Brain Cingulate Gyrus	brain
10	chr11:57093800-57100800	Strong transcription	HSMMtube	muscle
11	chr11:57093800-57101000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:57093800-57101000	Strong transcription	Brain Angular Gyrus	brain
13	chr11:57093800-57101000	Strong transcription	Brain Hippocampus Middle	brain
14	chr11:57093800-57101200	Strong transcription	Fetal Brain Female	brain
15	chr11:57093800-57101600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:57093800-57101600	Strong transcription	Brain Anterior Caudate	brain
17	chr11:57093800-57101800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:57093800-57102000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:57094000-57100000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:57094000-57100400	Strong transcription	Brain Germinal Matrix	brain
21	chr11:57094000-57100800	Strong transcription	Colon Smooth Muscle	Colon
22	chr11:57094000-57101000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:57094000-57101200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:57094000-57101200	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr11:57094000-57101200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:57094000-57101200	Strong transcription	NH-A	brain
27	chr11:57094000-57101200	Strong transcription	Osteobl	bone
28	chr11:57094000-57101400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:57094000-57101600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:57094000-57101600	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:57094000-57101800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:57094000-57101800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:57094000-57101800	Strong transcription	Fetal Lung	lung
34	chr11:57094000-57101800	Strong transcription	NHEK	skin
35	chr11:57094000-57102000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:57094200-57100400	Strong transcription	NHLF	lung
37	chr11:57094200-57100800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:57094200-57100800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:57094200-57100800	Strong transcription	Brain Substantia Nigra	brain
40	chr11:57094200-57101000	Strong transcription	Primary B cells from cord blood	blood
41	chr11:57094200-57101200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:57094200-57101200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:57094200-57101400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:57094200-57101400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:57094200-57101400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:57094200-57101600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:57094200-57101800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:57094200-57101800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:57094200-57102000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:57094200-57102000	Strong transcription	Muscle Satellite Cultured Cells	--

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