Variant report

Variant	rs11547635
Chromosome Location	chr22:33253292-33253293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
2	chr22:33252312..33253945-chr22:33277118..33278817,2	K562	blood:
3	22:32544939-32549151..22:33253287-33262063	Hela-S3	cervix:
4	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
5	22:31961151-31976153..22:33253287-33262063	K562	blood:
6	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000205856	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2071947	0.83[CHD][hapmap]
rs2283883	0.81[CHD][hapmap]
rs2283885	0.83[CHD][hapmap]
rs9609649	1.00[YRI][hapmap]

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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1059368	chr22:33249121-33268782	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv3447996	chr22:33253056-33253351	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:33236200-33253800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:33236200-33259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
6	chr22:33238400-33259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:33241600-33257800	Strong transcription	HepG2	liver
8	chr22:33241600-33258400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:33243400-33257600	Weak transcription	Fetal Brain Male	brain
10	chr22:33243400-33260200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:33243600-33254000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:33243800-33255800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr22:33244200-33262000	Weak transcription	Brain Germinal Matrix	brain
14	chr22:33244400-33253600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:33244800-33257800	Strong transcription	NH-A	brain
16	chr22:33245000-33258800	Weak transcription	Pancreas	Pancrea
17	chr22:33245400-33258800	Strong transcription	HSMM	muscle
18	chr22:33245600-33265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:33245800-33264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:33247000-33258400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:33247400-33254000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:33247400-33257600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr22:33247800-33260200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:33248000-33258400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:33248200-33254200	Weak transcription	Colonic Mucosa	Colon
26	chr22:33248600-33257400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr22:33248800-33254200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:33248800-33255800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr22:33249000-33253800	Weak transcription	Gastric	stomach
30	chr22:33249200-33253400	Weak transcription	Brain Hippocampus Middle	brain
31	chr22:33249200-33254000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr22:33249400-33253400	Weak transcription	Ovary	ovary
33	chr22:33249400-33254400	Weak transcription	Fetal Thymus	thymus
34	chr22:33249400-33257800	Weak transcription	Small Intestine	intestine
35	chr22:33249400-33258600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:33249600-33259000	Strong transcription	Fetal Stomach	stomach
37	chr22:33249800-33253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:33249800-33253800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:33249800-33258200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:33249800-33258800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr22:33249800-33262800	Weak transcription	Brain Angular Gyrus	brain
42	chr22:33250000-33254000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:33250200-33257400	Genic enhancers	Right Ventricle	heart
44	chr22:33250400-33258800	Strong transcription	Osteobl	bone
45	chr22:33250600-33258800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:33250800-33253400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr22:33250800-33255800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:33250800-33258400	Strong transcription	Spleen	Spleen
49	chr22:33251000-33256600	Strong transcription	Lung	lung
50	chr22:33251000-33257200	Strong transcription	Fetal Muscle Leg	muscle

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