Variant report

Variant	rs56177555
Chromosome Location	chr11:66290922-66290923
allele	C/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	chr11:66290536-66291210	U87	brain:	n/a	n/a
2	POLR2A	chr11:66290638-66291003	U87	brain:	n/a	n/a
3	POLR2A	chr11:66290326-66290924	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66286543..66288664-chr11:66289775..66291929,2	MCF-7	breast:
2	chr11:66290583..66293283-chr11:66311387..66313963,2	MCF-7	breast:
3	chr11:66290822..66293457-chr11:66382909..66385562,2	K562	blood:

Variant related genes	Relation type
BBS1	TF binding region
ENSG00000174165	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11227491	1.00[AMR][1000 genomes]
rs17849480	1.00[AMR][1000 genomes]
rs17850564	1.00[AMR][1000 genomes]
rs55955243	1.00[AMR][1000 genomes]
rs56146874	1.00[AMR][1000 genomes]
rs56194916	1.00[AMR][1000 genomes]
rs56244360	1.00[AMR][1000 genomes]
rs56291132	1.00[AMR][1000 genomes]
rs56380786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57113976	1.00[AMR][1000 genomes]
rs57412357	1.00[AMR][1000 genomes]
rs58447882	1.00[AMR][1000 genomes]
rs58527779	1.00[AMR][1000 genomes]
rs58883837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59057733	1.00[AMR][1000 genomes]
rs59213528	1.00[AMR][1000 genomes]
rs59792175	1.00[AMR][1000 genomes]
rs60315012	1.00[AMR][1000 genomes]
rs61675228	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
5	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66294000	Weak transcription	Aorta	Aorta
3	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
4	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66279000-66291200	Weak transcription	Psoas Muscle	Psoas
6	chr11:66279000-66303000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
10	chr11:66279200-66295400	Weak transcription	Fetal Kidney	kidney
11	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
12	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:66279400-66295000	Weak transcription	K562	blood
16	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
17	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
18	chr11:66279800-66305200	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:66280000-66292400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:66280400-66292000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:66280600-66291800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:66281000-66292000	Strong transcription	Fetal Intestine Small	intestine
23	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
24	chr11:66281400-66292200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
26	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:66285400-66291600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:66285400-66292000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:66285400-66292600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:66285600-66292000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:66285600-66292000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:66285600-66292200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:66285800-66291400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:66286000-66291600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:66286200-66291400	Strong transcription	Osteobl	bone
36	chr11:66286200-66292000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:66286200-66292000	Strong transcription	Fetal Intestine Large	intestine
38	chr11:66286200-66292200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:66286200-66292200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:66286200-66301000	Strong transcription	Placenta	Placenta
41	chr11:66286200-66301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:66286400-66291600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:66286400-66291600	Strong transcription	Fetal Thymus	thymus
44	chr11:66286400-66291600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:66286400-66292000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:66286400-66292200	Strong transcription	Adipose Nuclei	Adipose
47	chr11:66286400-66292400	Strong transcription	Brain Germinal Matrix	brain
48	chr11:66286600-66291400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:66286600-66291400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:66286600-66291600	Strong transcription	Rectal Mucosa Donor 31	rectum

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