Variant report

Variant	rs218634
Chromosome Location	chr21:37794921-37794922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:37791564..37796333-chr21:37799622..37803689,7	K562	blood:
2	chr21:37760768..37762628-chr21:37793201..37795778,2	K562	blood:
3	chr21:37792530..37794519-chr21:37794830..37796471,2	MCF-7	breast:
4	chr21:37792387..37794990-chr21:37927317..37930262,2	MCF-7	breast:
5	chr21:37794354..37795116-chr21:37873659..37874332,2	MCF-7	breast:
6	chr21:37794914..37795627-chr21:38007603..38008381,2	MCF-7	breast:
7	chr21:37791599..37796333-chr21:37798016..37803207,7	K562	blood:
8	chr21:37792481..37796314-chr21:37849941..37853002,4	MCF-7	breast:
9	chr21:37794409..37795183-chr21:37961594..37962152,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159261	Chromatin interaction
ENSG00000224421	Chromatin interaction
ENSG00000230479	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1076836	1.00[JPT][hapmap]
rs11088348	1.00[JPT][hapmap]
rs218639	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs218646	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758600-37797600	Weak transcription	HSMM	muscle
2	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr21:37775600-37802200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr21:37776200-37797400	Weak transcription	HSMMtube	muscle
5	chr21:37776400-37795000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:37786000-37795000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:37786000-37801000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr21:37786400-37801200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:37786400-37801200	Weak transcription	NHEK	skin
10	chr21:37786600-37796400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:37786800-37801000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:37787200-37803200	Weak transcription	Esophagus	oesophagus
13	chr21:37788800-37797600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:37788800-37801800	Weak transcription	GM12878-XiMat	blood
15	chr21:37788800-37802000	Weak transcription	Gastric	stomach
16	chr21:37789000-37797600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:37789000-37801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:37789000-37801200	Weak transcription	Adipose Nuclei	Adipose
19	chr21:37789000-37802200	Weak transcription	Primary T cells from cord blood	blood
20	chr21:37789200-37801000	Weak transcription	HMEC	breast
21	chr21:37789400-37801000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr21:37790200-37795000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:37790200-37802600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:37790800-37802000	Weak transcription	Fetal Intestine Small	intestine
25	chr21:37790800-37806600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr21:37791200-37796400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:37791800-37797000	Weak transcription	Fetal Thymus	thymus
28	chr21:37792000-37796000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:37792200-37798800	Weak transcription	Fetal Stomach	stomach
30	chr21:37792800-37797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:37792800-37800800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr21:37792800-37801000	Weak transcription	Spleen	Spleen
33	chr21:37793000-37800800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:37793200-37802200	Weak transcription	Thymus	Thymus
35	chr21:37794000-37795200	Enhancers	Fetal Muscle Leg	muscle
36	chr21:37794000-37795200	Enhancers	HUVEC	blood vessel
37	chr21:37794200-37795000	Enhancers	Osteobl	bone
38	chr21:37794200-37795200	Enhancers	Liver	Liver
39	chr21:37794200-37795200	Enhancers	NH-A	brain
40	chr21:37794200-37795400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr21:37794200-37795400	Enhancers	A549	lung
42	chr21:37794200-37795600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:37794200-37795800	Enhancers	Fetal Heart	heart
44	chr21:37794400-37795000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr21:37794400-37795000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:37794400-37795000	Enhancers	Hela-S3	cervix
47	chr21:37794400-37795000	Enhancers	HepG2	liver
48	chr21:37794400-37795200	Enhancers	Placenta	Placenta
49	chr21:37794400-37795200	Strong transcription	Dnd41	blood
50	chr21:37794400-37795400	Enhancers	Fetal Lung	lung

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