Variant report

Variant	rs61830404
Chromosome Location	chr1:220209307-220209308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220196455..220198448-chr1:220208352..220209875,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10495143	0.84[AMR][1000 genomes]
rs10779393	0.84[AMR][1000 genomes]
rs10863523	0.84[AMR][1000 genomes]
rs10863525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863526	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118483	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11118490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022181	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12046562	0.83[AMR][1000 genomes]
rs12057468	0.82[AMR][1000 genomes]
rs12068478	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270709	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28758924	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3767658	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55675937	0.80[ASN][1000 genomes]
rs57884703	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61830370	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61830400	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6674466	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6686451	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7539497	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
3	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
7	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
8	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
9	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
14	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
15	chr1:220196400-220211600	Weak transcription	Gastric	stomach
16	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:220196600-220212200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
19	chr1:220197400-220212000	Weak transcription	Small Intestine	intestine
20	chr1:220197600-220211800	Weak transcription	Spleen	Spleen
21	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:220200200-220212200	Strong transcription	GM12878-XiMat	blood
23	chr1:220200800-220210200	Strong transcription	Dnd41	blood
24	chr1:220202200-220210200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:220205000-220212200	Weak transcription	Fetal Kidney	kidney
27	chr1:220205200-220216800	Weak transcription	Fetal Brain Male	brain
28	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:220206200-220212000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:220206200-220212000	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:220206400-220209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:220206600-220209800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:220206600-220211600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:220206600-220211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:220206600-220211600	Weak transcription	Left Ventricle	heart
36	chr1:220206600-220211800	Weak transcription	Ovary	ovary
37	chr1:220206600-220211800	Weak transcription	Thymus	Thymus
38	chr1:220206600-220212000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:220206600-220212000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:220206600-220212000	Weak transcription	A549	lung
41	chr1:220206600-220212000	Weak transcription	HSMMtube	muscle
42	chr1:220206600-220217000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:220206800-220209400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:220206800-220211200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:220206800-220211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:220206800-220211800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:220206800-220211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:220206800-220211800	Weak transcription	Fetal Intestine Small	intestine
49	chr1:220206800-220211800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:220206800-220212000	Weak transcription	H9 Cell Line	embryonic stem cell

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