Variant report

Variant	rs1209955
Chromosome Location	chr21:40184534-40184535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40184185..40186181-chr21:40274030..40276834,2	MCF-7	breast:
2	chr21:40184223..40185777-chr21:40281184..40284011,2	K562	blood:
3	chr21:40183745..40185634-chr21:40221836..40225935,3	K562	blood:
4	chr21:40104619..40107467-chr21:40182654..40185637,2	K562	blood:
5	chr21:40184134..40185724-chr21:40220746..40223336,2	K562	blood:

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

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

rs_ID	r²[population]
rs1209949	0.83[ASN][1000 genomes]
rs1209951	0.83[ASN][1000 genomes]
rs1209952	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1209954	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40179000-40184800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr21:40179200-40184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:40179600-40184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:40179600-40184800	Weak transcription	HSMMtube	muscle
5	chr21:40179800-40185200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:40180000-40184800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr21:40180000-40185000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:40180000-40186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:40180200-40185800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:40180200-40186200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:40180200-40198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr21:40180400-40184600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr21:40180400-40184800	Weak transcription	Ovary	ovary
14	chr21:40180400-40186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:40180400-40186400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr21:40180400-40186600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr21:40180600-40185000	Weak transcription	Thymus	Thymus
18	chr21:40180600-40185200	Weak transcription	Brain Substantia Nigra	brain
19	chr21:40180600-40185200	Weak transcription	Gastric	stomach
20	chr21:40180600-40186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:40180600-40188400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr21:40181000-40186200	Weak transcription	Brain Angular Gyrus	brain
23	chr21:40181000-40186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:40181200-40187400	Strong transcription	Primary T cells from cord blood	blood
25	chr21:40181400-40185400	Weak transcription	Fetal Kidney	kidney
26	chr21:40181600-40185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:40181600-40185200	Weak transcription	Aorta	Aorta
28	chr21:40181600-40185200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr21:40181600-40189000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:40181600-40192600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr21:40181600-40193600	Strong transcription	Fetal Muscle Leg	muscle
32	chr21:40181800-40185000	Weak transcription	Fetal Brain Male	brain
33	chr21:40181800-40185600	Weak transcription	GM12878-XiMat	blood
34	chr21:40181800-40186200	Weak transcription	Esophagus	oesophagus
35	chr21:40181800-40186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:40181800-40187400	Genic enhancers	HepG2	liver
37	chr21:40181800-40188400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr21:40181800-40189400	Strong transcription	Placenta	Placenta
39	chr21:40181800-40193800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr21:40181800-40197000	Strong transcription	Fetal Thymus	thymus
41	chr21:40182000-40185000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr21:40182000-40185000	Weak transcription	Stomach Mucosa	stomach
43	chr21:40182000-40185200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr21:40182000-40185200	Weak transcription	Brain Anterior Caudate	brain
45	chr21:40182000-40196600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:40182200-40185000	Strong transcription	Fetal Stomach	stomach
47	chr21:40182200-40187200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
48	chr21:40182400-40186400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr21:40182600-40185000	Enhancers	Rectal Smooth Muscle	rectum
50	chr21:40182600-40185200	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links