Variant report

Variant	rs149175040
Chromosome Location	chr21:46520377-46520378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
2	chr21:46421527..46423886-chr21:46518850..46521282,2	MCF-7	breast:
3	chr21:46500190..46501705-chr21:46518779..46520799,2	K562	blood:
4	chr21:46515956..46522233-chr21:46528087..46531013,7	K562	blood:
5	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	esv3359090	chr21:46519949-46522497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46499000-46522200	Weak transcription	NHDF-Ad	bronchial
2	chr21:46500000-46522200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:46503000-46522200	Weak transcription	Brain Angular Gyrus	brain
4	chr21:46506600-46521400	Weak transcription	NHEK	skin
5	chr21:46509400-46524000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr21:46512000-46521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:46512200-46521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:46512200-46522400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:46512200-46525600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:46512800-46520400	Enhancers	Fetal Muscle Leg	muscle
11	chr21:46513200-46529200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:46513400-46521600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:46513600-46520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:46513600-46522200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr21:46513600-46522400	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:46513600-46522600	Weak transcription	Aorta	Aorta
17	chr21:46513600-46522600	Weak transcription	Brain Anterior Caudate	brain
18	chr21:46513800-46520400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr21:46513800-46522000	Weak transcription	Stomach Mucosa	stomach
20	chr21:46514200-46525000	Enhancers	Right Ventricle	heart
21	chr21:46514600-46522600	Weak transcription	Fetal Thymus	thymus
22	chr21:46514800-46522200	Weak transcription	Primary T cells from cord blood	blood
23	chr21:46514800-46523800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr21:46515000-46522200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr21:46515200-46521800	Weak transcription	Pancreas	Pancrea
26	chr21:46515200-46522000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr21:46515400-46522000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:46515600-46522400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr21:46516200-46522200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:46516200-46524000	Weak transcription	Gastric	stomach
31	chr21:46516400-46520400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:46516400-46521600	Weak transcription	HMEC	breast
33	chr21:46516400-46525600	Weak transcription	K562	blood
34	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr21:46516600-46520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:46516600-46521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:46516600-46522000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:46516600-46522600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:46516600-46522600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:46517400-46520400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr21:46517400-46523800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:46517600-46520400	Enhancers	Colon Smooth Muscle	Colon
43	chr21:46517600-46520400	Enhancers	Fetal Lung	lung
44	chr21:46517600-46521400	Weak transcription	Adipose Nuclei	Adipose
45	chr21:46517600-46521400	Enhancers	Fetal Brain Male	brain
46	chr21:46518000-46520800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:46518200-46522600	Weak transcription	Esophagus	oesophagus
48	chr21:46518400-46520400	Enhancers	Fetal Brain Female	brain
49	chr21:46518400-46520400	Enhancers	Fetal Stomach	stomach
50	chr21:46518400-46520600	Enhancers	Muscle Satellite Cultured Cells	--

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