Variant report

Variant	rs11701005
Chromosome Location	chr21:40374788-40374789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40373243..40374883-chr21:40376430..40378943,2	MCF-7	breast:
2	chr21:40337165..40339776-chr21:40372781..40374935,2	MCF-7	breast:
3	chr21:40368593..40371814-chr21:40373628..40376424,3	MCF-7	breast:
4	chr21:40177611..40180110-chr21:40373849..40375995,3	K562	blood:

Variant related genes	Relation type
ENSG00000235888	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73364803	0.81[ASN][1000 genomes]
rs9983202	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr21:40360800-40376600	Weak transcription	Gastric	stomach
3	chr21:40362600-40376800	Weak transcription	Aorta	Aorta
4	chr21:40363600-40375800	Weak transcription	Colonic Mucosa	Colon
5	chr21:40366400-40376200	Weak transcription	Stomach Mucosa	stomach
6	chr21:40366400-40381600	Weak transcription	Psoas Muscle	Psoas
7	chr21:40367800-40376000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:40368000-40374800	Weak transcription	Small Intestine	intestine
9	chr21:40368200-40375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr21:40368400-40375600	Weak transcription	Fetal Heart	heart
11	chr21:40369200-40375400	Weak transcription	Primary B cells from cord blood	blood
12	chr21:40369200-40376000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr21:40369400-40375400	Weak transcription	Thymus	Thymus
14	chr21:40369400-40376000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr21:40369400-40376200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:40370600-40376600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:40370800-40378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:40370800-40379200	Enhancers	NHDF-Ad	bronchial
19	chr21:40371200-40379800	Enhancers	Primary hematopoietic stem cells	blood
20	chr21:40371600-40375400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:40371600-40375600	Enhancers	Spleen	Spleen
22	chr21:40371600-40379200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr21:40371800-40376200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:40372000-40385000	Weak transcription	Pancreas	Pancrea
25	chr21:40372600-40376200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr21:40373000-40374800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr21:40373000-40376600	Weak transcription	NHEK	skin
28	chr21:40373200-40375400	Weak transcription	Fetal Stomach	stomach
29	chr21:40373200-40376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:40373200-40376400	Weak transcription	Esophagus	oesophagus
31	chr21:40373200-40379000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr21:40373400-40374800	Weak transcription	Fetal Thymus	thymus
33	chr21:40373400-40374800	Weak transcription	Right Atrium	heart
34	chr21:40373400-40374800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr21:40373400-40375000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr21:40373400-40375600	Weak transcription	HSMM	muscle
37	chr21:40373400-40375800	Weak transcription	NHLF	lung
38	chr21:40373400-40376000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:40373400-40376000	Weak transcription	NH-A	brain
40	chr21:40373400-40376200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:40373400-40376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:40373400-40376600	Weak transcription	HMEC	breast
43	chr21:40373400-40379000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr21:40373600-40375200	Weak transcription	HUVEC	blood vessel
45	chr21:40373600-40375600	Weak transcription	Osteobl	bone
46	chr21:40373600-40376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:40373800-40375400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:40373800-40375600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr21:40374000-40375600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:40374000-40380400	Enhancers	Adipose Nuclei	Adipose

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