Variant report

Variant	rs9983202
Chromosome Location	chr21:40376636-40376637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40374957..40377552-chr21:40377972..40380476,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235888	Chromatin interaction

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

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

rs_ID	r²[population]
rs11701005	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59760205	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40362600-40376800	Weak transcription	Aorta	Aorta
2	chr21:40366400-40381600	Weak transcription	Psoas Muscle	Psoas
3	chr21:40370800-40378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:40370800-40379200	Enhancers	NHDF-Ad	bronchial
5	chr21:40371200-40379800	Enhancers	Primary hematopoietic stem cells	blood
6	chr21:40371600-40379200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr21:40372000-40385000	Weak transcription	Pancreas	Pancrea
8	chr21:40373200-40379000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:40373400-40379000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:40374000-40380400	Enhancers	Adipose Nuclei	Adipose
11	chr21:40374600-40380400	Enhancers	Fetal Muscle Leg	muscle
12	chr21:40374800-40377400	Enhancers	Small Intestine	intestine
13	chr21:40374800-40381000	Enhancers	Fetal Thymus	thymus
14	chr21:40375000-40377600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:40375000-40378400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr21:40375200-40377800	Enhancers	Stomach Smooth Muscle	stomach
17	chr21:40375200-40378000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr21:40375200-40378400	Weak transcription	Ovary	ovary
19	chr21:40375200-40378400	Enhancers	HUVEC	blood vessel
20	chr21:40375200-40379000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:40375400-40377400	Enhancers	Primary T cells from cord blood	blood
22	chr21:40375400-40377800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:40375400-40377800	Enhancers	Thymus	Thymus
24	chr21:40375400-40378000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr21:40375400-40380000	Enhancers	Fetal Stomach	stomach
26	chr21:40375400-40380000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr21:40375600-40376800	Enhancers	HSMM	muscle
28	chr21:40375600-40377400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr21:40375600-40379200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:40375600-40379200	Enhancers	Osteobl	bone
31	chr21:40375800-40376800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:40375800-40376800	Enhancers	Brain Anterior Caudate	brain
33	chr21:40375800-40376800	Enhancers	K562	blood
34	chr21:40375800-40377600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:40375800-40378000	Enhancers	Fetal Intestine Small	intestine
36	chr21:40375800-40378600	Enhancers	NHLF	lung
37	chr21:40375800-40378800	Enhancers	Colon Smooth Muscle	Colon
38	chr21:40375800-40380400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr21:40376000-40376800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:40376000-40376800	Enhancers	Brain Angular Gyrus	brain
41	chr21:40376000-40376800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr21:40376000-40377200	Weak transcription	Fetal Heart	heart
43	chr21:40376000-40377400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr21:40376000-40377400	Enhancers	NH-A	brain
45	chr21:40376000-40377600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:40376000-40377600	Enhancers	Duodenum Mucosa	Duodenum
47	chr21:40376000-40377600	Enhancers	Rectal Smooth Muscle	rectum
48	chr21:40376000-40379200	Enhancers	Brain Hippocampus Middle	brain
49	chr21:40376000-40379200	Enhancers	Spleen	Spleen
50	chr21:40376000-40379400	Enhancers	Primary B cells from cord blood	blood

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