Variant report

Variant	rs58630413
Chromosome Location	chr21:16431152-16431153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16235181..16239841-chr21:16427951..16432204,4	MCF-7	breast:
2	chr21:16431111..16433395-chr21:16603127..16605498,2	MCF-7	breast:
3	chr21:16422646..16426145-chr21:16428439..16434126,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2823012	0.86[ASN][1000 genomes]
rs2823013	0.84[ASN][1000 genomes]
rs2823014	0.88[ASN][1000 genomes]
rs2823015	0.88[ASN][1000 genomes]
rs2823016	0.88[ASN][1000 genomes]
rs3787575	1.00[AMR][1000 genomes]
rs56862001	1.00[AMR][1000 genomes]
rs57209933	1.00[AMR][1000 genomes]
rs58699593	1.00[AMR][1000 genomes]
rs59988518	1.00[AMR][1000 genomes]
rs7279087	0.86[ASN][1000 genomes]
rs881996	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16407400-16431200	Weak transcription	NHEK	skin
2	chr21:16415200-16431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:16420400-16434800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:16422800-16435200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:16423600-16435200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:16423800-16435200	Weak transcription	Fetal Brain Male	brain
7	chr21:16424400-16435400	Weak transcription	Gastric	stomach
8	chr21:16424800-16431400	Enhancers	Fetal Intestine Large	intestine
9	chr21:16425800-16433000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:16426600-16431200	Weak transcription	HMEC	breast
11	chr21:16426600-16434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:16427400-16431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:16427600-16431200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:16427600-16431200	Enhancers	HepG2	liver
15	chr21:16427600-16433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:16427600-16435200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:16427800-16435000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr21:16428400-16435200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr21:16428600-16432000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr21:16428800-16431600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr21:16428800-16431800	Enhancers	Colon Smooth Muscle	Colon
22	chr21:16428800-16435200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr21:16429000-16431400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr21:16429000-16432200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:16429000-16434400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr21:16429000-16434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:16429000-16439200	Active TSS	A549	lung
28	chr21:16429200-16431400	Enhancers	Liver	Liver
29	chr21:16429200-16431400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr21:16429200-16431600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr21:16429200-16431600	Enhancers	Primary B cells from peripheral blood	blood
32	chr21:16429200-16431600	Enhancers	Brain Anterior Caudate	brain
33	chr21:16429200-16431600	Enhancers	Fetal Lung	lung
34	chr21:16429200-16433200	Enhancers	Dnd41	blood
35	chr21:16429400-16431200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr21:16429400-16431200	Enhancers	Fetal Kidney	kidney
37	chr21:16429400-16432000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:16429400-16433400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:16429600-16431200	Enhancers	Brain Cingulate Gyrus	brain
40	chr21:16429600-16432000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:16429800-16431200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:16429800-16431600	Enhancers	Brain Angular Gyrus	brain
43	chr21:16429800-16435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr21:16429800-16435000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr21:16429800-16435200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:16430000-16431200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:16430000-16431200	Weak transcription	Ovary	ovary
48	chr21:16430000-16431200	Enhancers	NH-A	brain
49	chr21:16430000-16431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr21:16430000-16431400	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links