Variant report

Variant	rs59760205
Chromosome Location	chr21:40378144-40378145
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	POLR2A	chr21:40376259-40379214	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000235888	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9305659	0.82[ASN][1000 genomes]
rs9983202	0.90[ASN][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40366400-40381600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40370800-40378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:40370800-40379200	Enhancers	NHDF-Ad	bronchial
4	chr21:40371200-40379800	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:40371600-40379200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr21:40372000-40385000	Weak transcription	Pancreas	Pancrea
7	chr21:40373200-40379000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr21:40373400-40379000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:40374000-40380400	Enhancers	Adipose Nuclei	Adipose
10	chr21:40374600-40380400	Enhancers	Fetal Muscle Leg	muscle
11	chr21:40374800-40381000	Enhancers	Fetal Thymus	thymus
12	chr21:40375000-40378400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr21:40375200-40378400	Weak transcription	Ovary	ovary
14	chr21:40375200-40378400	Enhancers	HUVEC	blood vessel
15	chr21:40375200-40379000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:40375400-40380000	Enhancers	Fetal Stomach	stomach
17	chr21:40375400-40380000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr21:40375600-40379200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:40375600-40379200	Enhancers	Osteobl	bone
20	chr21:40375800-40378600	Enhancers	NHLF	lung
21	chr21:40375800-40378800	Enhancers	Colon Smooth Muscle	Colon
22	chr21:40375800-40380400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:40376000-40379200	Enhancers	Brain Hippocampus Middle	brain
24	chr21:40376000-40379200	Enhancers	Spleen	Spleen
25	chr21:40376000-40379400	Enhancers	Primary B cells from cord blood	blood
26	chr21:40376000-40379600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr21:40376000-40381200	Enhancers	Fetal Muscle Trunk	muscle
28	chr21:40376000-40381200	Enhancers	Placenta	Placenta
29	chr21:40376000-40384600	Enhancers	Lung	lung
30	chr21:40376200-40378400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:40376200-40378400	Enhancers	Brain Substantia Nigra	brain
32	chr21:40376200-40378400	Enhancers	Left Ventricle	heart
33	chr21:40376200-40378600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr21:40376200-40379200	Enhancers	Primary B cells from peripheral blood	blood
35	chr21:40376200-40379200	Enhancers	Stomach Mucosa	stomach
36	chr21:40376200-40379800	Enhancers	Right Atrium	heart
37	chr21:40376400-40379200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr21:40376400-40379200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:40376600-40378200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr21:40376600-40378200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr21:40376600-40379200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:40376600-40379400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr21:40376600-40380200	Weak transcription	Fetal Kidney	kidney
44	chr21:40376600-40380400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr21:40376600-40383200	Enhancers	Fetal Lung	lung
46	chr21:40376800-40379600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr21:40376800-40380400	Enhancers	Colonic Mucosa	Colon
48	chr21:40377000-40380000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr21:40377200-40378200	Weak transcription	HSMM	muscle
50	chr21:40377200-40378400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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