Variant report

Variant	rs56740954
Chromosome Location	chr11:85781635-85781636
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	PBX3	chr11:85779790-85781881	SK-N-SH	brain:	n/a	chr11:85781807-85781816 chr11:85781678-85781689
2	TCF12	chr11:85779742-85782012	SK-N-SH	brain:	n/a	n/a
3	EGR1	chr11:85781378-85781639	K562	blood:	n/a	chr11:85781521-85781534 chr11:85781521-85781534 chr11:85781521-85781534 chr11:85781520-85781535
4	MAZ	chr11:85777821-85781917	IMR90	lung:	n/a	chr11:85780346-85780365 chr11:85780167-85780176 chr11:85780351-85780360 chr11:85781713-85781722 chr11:85780167-85780176 chr11:85780351-85780360 chr11:85780167-85780176 chr11:85780042-85780052 chr11:85780162-85780181 chr11:85780805-85780816 chr11:85780349-85780362 chr11:85780350-85780361 chr11:85780165-85780178

No.	Distal block	Cell Line	Cell type
1	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
2	chr11:85775018..85777414-chr11:85781077..85783520,2	K562	blood:
3	chr11:85781558..85783206-chr11:85914108..85916095,2	K562	blood:
4	chr11:85780488..85782711-chr11:85954373..85957163,3	MCF-7	breast:
5	chr11:85779554..85782905-chr11:85860304..85865248,6	K562	blood:
6	chr11:85778910..85781849-chr11:85954546..85957728,3	K562	blood:
7	chr11:85781335..85783315-chr11:85791382..85794341,2	K562	blood:

Variant related genes	Relation type
PICALM	TF binding region
ENSG00000200877	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000254699	Chromatin interaction
ENSG00000254502	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11819899	0.81[AFR][1000 genomes]
rs11820163	1.00[AMR][1000 genomes]
rs11825034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61537781	0.81[AFR][1000 genomes]
rs7948833	1.00[AMR][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	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85780600-85782000	Flanking Active TSS	K562	blood
2	chr11:85780800-85781800	Enhancers	Brain Cingulate Gyrus	brain
3	chr11:85780800-85781800	Enhancers	Fetal Heart	heart
4	chr11:85780800-85782400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:85780800-85784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:85781000-85781800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:85781000-85781800	Enhancers	Colon Smooth Muscle	Colon
8	chr11:85781000-85781800	Enhancers	Fetal Muscle Leg	muscle
9	chr11:85781000-85781800	Enhancers	Fetal Thymus	thymus
10	chr11:85781000-85781800	Enhancers	Thymus	Thymus
11	chr11:85781000-85781800	Enhancers	Spleen	Spleen
12	chr11:85781000-85782000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:85781000-85782000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:85781000-85782000	Enhancers	Brain Substantia Nigra	brain
15	chr11:85781000-85782400	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:85781000-85782400	Enhancers	Placenta	Placenta
17	chr11:85781000-85783400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:85781000-85784000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:85781200-85781800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:85781200-85781800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:85781200-85781800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:85781200-85781800	Enhancers	Psoas Muscle	Psoas
23	chr11:85781200-85781800	Enhancers	HepG2	liver
24	chr11:85781200-85782000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:85781200-85782000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:85781200-85782000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:85781200-85782000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:85781200-85782000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:85781200-85782000	Enhancers	Adipose Nuclei	Adipose
30	chr11:85781200-85782000	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:85781200-85782000	Enhancers	A549	lung
32	chr11:85781200-85782000	Enhancers	HMEC	breast
33	chr11:85781200-85782000	Enhancers	Osteobl	bone
34	chr11:85781200-85782200	Enhancers	NHLF	lung
35	chr11:85781200-85782400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:85781200-85782400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:85781200-85782400	Enhancers	HSMMtube	muscle
38	chr11:85781200-85782600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:85781200-85783400	Enhancers	NHEK	skin
40	chr11:85781200-85783800	Enhancers	NHDF-Ad	bronchial
41	chr11:85781200-85784000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:85781400-85781800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:85781400-85781800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:85781400-85781800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:85781400-85781800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:85781400-85781800	Enhancers	Aorta	Aorta
47	chr11:85781400-85781800	Enhancers	Fetal Brain Male	brain
48	chr11:85781400-85781800	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:85781400-85781800	Enhancers	Left Ventricle	heart
50	chr11:85781400-85781800	Enhancers	Rectal Smooth Muscle	rectum

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