Variant report

Variant	rs67648865
Chromosome Location	chr21:37796399-37796400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37794982..37796991-chr21:37998830..38001272,2	K562	blood:
2	chr1:109288049..109290549-chr21:37795253..37797345,2	MCF-7	breast:
3	chr21:37795207..37797930-chr21:37949157..37951916,2	MCF-7	breast:
4	chr21:37792530..37794519-chr21:37794830..37796471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116266	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2898286	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56382962	0.81[EUR][1000 genomes]
rs67850591	0.96[EUR][1000 genomes]
rs67986303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68081676	0.96[EUR][1000 genomes]
rs7275524	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7279180	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9754126	0.87[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758600-37797600	Weak transcription	HSMM	muscle
2	chr21:37775600-37802200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr21:37776200-37797400	Weak transcription	HSMMtube	muscle
4	chr21:37786000-37801000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr21:37786400-37801200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:37786400-37801200	Weak transcription	NHEK	skin
7	chr21:37786600-37796400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr21:37786800-37801000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:37787200-37803200	Weak transcription	Esophagus	oesophagus
10	chr21:37788800-37797600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:37788800-37801800	Weak transcription	GM12878-XiMat	blood
12	chr21:37788800-37802000	Weak transcription	Gastric	stomach
13	chr21:37789000-37797600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:37789000-37801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:37789000-37801200	Weak transcription	Adipose Nuclei	Adipose
16	chr21:37789000-37802200	Weak transcription	Primary T cells from cord blood	blood
17	chr21:37789200-37801000	Weak transcription	HMEC	breast
18	chr21:37789400-37801000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr21:37790200-37802600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:37790800-37802000	Weak transcription	Fetal Intestine Small	intestine
21	chr21:37790800-37806600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr21:37791200-37796400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:37791800-37797000	Weak transcription	Fetal Thymus	thymus
24	chr21:37792200-37798800	Weak transcription	Fetal Stomach	stomach
25	chr21:37792800-37797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr21:37792800-37800800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:37792800-37801000	Weak transcription	Spleen	Spleen
28	chr21:37793000-37800800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:37793200-37802200	Weak transcription	Thymus	Thymus
30	chr21:37794400-37796800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:37794600-37796600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:37794800-37796600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr21:37794800-37802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:37795000-37797400	Weak transcription	Osteobl	bone
35	chr21:37795000-37801600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:37795000-37802200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr21:37795200-37796800	Weak transcription	Pancreas	Pancrea
38	chr21:37795200-37796800	Weak transcription	Dnd41	blood
39	chr21:37795200-37797400	Weak transcription	Fetal Muscle Leg	muscle
40	chr21:37795200-37797400	Weak transcription	NH-A	brain
41	chr21:37795200-37797600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:37795200-37801200	Weak transcription	Placenta	Placenta
43	chr21:37795200-37801200	Weak transcription	Lung	lung
44	chr21:37795200-37802000	Weak transcription	Right Atrium	heart
45	chr21:37795200-37802200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr21:37795400-37797800	Weak transcription	A549	lung
47	chr21:37795400-37801200	Weak transcription	Right Ventricle	heart
48	chr21:37795400-37802200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr21:37795600-37796800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr21:37795600-37797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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