Variant report

Variant	rs9976939
Chromosome Location	chr21:45386512-45386513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45194878..45196624-chr21:45385975..45388146,2	K562	blood:
2	chr21:45386012..45388707-chr21:45392125..45394514,2	K562	blood:

Variant related genes	Relation type
ENSG00000160213	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11910604	1.00[EUR][1000 genomes]
rs2838459	1.00[EUR][1000 genomes]
rs2838463	1.00[EUR][1000 genomes]
rs2838465	1.00[EUR][1000 genomes]
rs57913591	1.00[EUR][1000 genomes]
rs73906694	1.00[EUR][1000 genomes]
rs73906696	1.00[EUR][1000 genomes]
rs878132	1.00[EUR][1000 genomes]
rs9680153	1.00[EUR][1000 genomes]
rs9974076	1.00[EUR][1000 genomes]
rs9978334	1.00[EUR][1000 genomes]
rs9979923	1.00[EUR][1000 genomes]
rs9984929	1.00[EUR][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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr21:45369400-45388800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:45370000-45390200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
5	chr21:45374400-45392400	Weak transcription	Stomach Mucosa	stomach
6	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:45377000-45398400	Weak transcription	A549	lung
8	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr21:45377200-45389000	Weak transcription	Psoas Muscle	Psoas
10	chr21:45378000-45390200	Weak transcription	Primary B cells from cord blood	blood
11	chr21:45378200-45395000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:45378200-45403800	Strong transcription	Dnd41	blood
13	chr21:45378400-45395000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr21:45378600-45392800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr21:45378600-45394800	Weak transcription	Fetal Brain Male	brain
16	chr21:45378600-45400800	Weak transcription	NH-A	brain
17	chr21:45378800-45395000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
19	chr21:45379000-45392400	Strong transcription	Fetal Stomach	stomach
20	chr21:45379000-45393400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr21:45379400-45386800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
24	chr21:45379800-45388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:45380200-45386600	Weak transcription	Brain Germinal Matrix	brain
26	chr21:45380200-45395000	Weak transcription	HMEC	breast
27	chr21:45380400-45387600	Weak transcription	NHLF	lung
28	chr21:45380400-45391800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:45381400-45388400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:45381600-45387400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:45381600-45387400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr21:45381600-45388800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:45381600-45388800	Weak transcription	Brain Angular Gyrus	brain
35	chr21:45381600-45390400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:45381600-45392200	Weak transcription	HSMM	muscle
37	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr21:45381800-45386800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr21:45381800-45386800	Weak transcription	Ovary	ovary
40	chr21:45381800-45388400	Weak transcription	Fetal Brain Female	brain
41	chr21:45381800-45388800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr21:45381800-45388800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr21:45381800-45389000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:45381800-45389000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:45381800-45389000	Weak transcription	Aorta	Aorta
46	chr21:45381800-45389000	Weak transcription	Brain Substantia Nigra	brain
47	chr21:45381800-45389000	Weak transcription	Osteobl	bone
48	chr21:45381800-45390200	Weak transcription	Brain Anterior Caudate	brain
49	chr21:45381800-45391200	Weak transcription	Fetal Lung	lung
50	chr21:45381800-45391200	Weak transcription	NHEK	skin

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