Variant report

Variant	rs56291132
Chromosome Location	chr11:66276537-66276538
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	MAFK	chr11:66276489-66276982	HepG2	liver:	n/a	chr11:66276489-66276498 chr11:66276872-66276887
2	SP1	chr11:66276445-66277053	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66240065..66243058-chr11:66275897..66279906,3	MCF-7	breast:
2	chr11:66276194..66279522-chr11:66281470..66284393,4	MCF-7	breast:
3	chr11:66246466..66249447-chr11:66272733..66277215,5	MCF-7	breast:
4	chr11:66275530..66280458-chr11:66280685..66284919,6	K562	blood:
5	chr11:66244850..66249884-chr11:66274125..66278778,6	MCF-7	breast:

Variant related genes	Relation type
BBS1	TF binding region
ENSG00000256349	TF binding region
ENSG00000174516	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000174483	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11227491	1.00[AMR][1000 genomes]
rs17849480	1.00[AMR][1000 genomes]
rs17850564	1.00[AMR][1000 genomes]
rs55955243	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56146874	1.00[AMR][1000 genomes]
rs56177555	1.00[AMR][1000 genomes]
rs56244360	1.00[AMR][1000 genomes]
rs56380786	1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57113976	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57412357	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58447882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58527779	1.00[AMR][1000 genomes]
rs58883837	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:6 , 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	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active 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	74 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66248600-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:66248600-66277600	Weak transcription	Fetal Brain Male	brain
3	chr11:66248600-66277600	Weak transcription	Fetal Lung	lung
4	chr11:66248600-66278000	Weak transcription	NHDF-Ad	bronchial
5	chr11:66248800-66277600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:66248800-66277600	Weak transcription	K562	blood
7	chr11:66251200-66277600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:66255800-66277800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:66259600-66277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:66261000-66277800	Weak transcription	Psoas Muscle	Psoas
11	chr11:66261200-66277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:66261200-66278000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:66261600-66277600	Weak transcription	Stomach Mucosa	stomach
14	chr11:66261800-66277800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:66262400-66277600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:66263600-66277800	Weak transcription	NH-A	brain
17	chr11:66264600-66278000	Weak transcription	HMEC	breast
18	chr11:66264800-66277600	Weak transcription	Hela-S3	cervix
19	chr11:66264800-66277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:66264800-66277800	Weak transcription	Osteobl	bone
21	chr11:66265000-66277800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:66265200-66277600	Weak transcription	Small Intestine	intestine
23	chr11:66265200-66277800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:66266600-66278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:66268800-66276800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:66270400-66277200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:66270800-66277000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:66270800-66277200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:66271400-66277000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:66271600-66277600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:66272800-66277600	Weak transcription	Primary T cells from cord blood	blood
32	chr11:66272800-66277600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:66272800-66277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:66272800-66277800	Weak transcription	Aorta	Aorta
35	chr11:66272800-66278000	Weak transcription	Lung	lung
36	chr11:66272800-66278000	Weak transcription	NHLF	lung
37	chr11:66273000-66276600	Weak transcription	Dnd41	blood
38	chr11:66273000-66277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:66273000-66277600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:66273000-66277600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:66273000-66277600	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:66273000-66277600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:66273000-66277600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:66273000-66277600	Weak transcription	Ovary	ovary
45	chr11:66273000-66277600	Weak transcription	Pancreas	Pancrea
46	chr11:66273000-66277800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:66273000-66277800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:66273000-66277800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:66273000-66277800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:66273000-66277800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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