Variant report

Variant	rs1043221
Chromosome Location	chr8:1953042-1953043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1043225	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs1043226	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11136448	1.00[ASN][1000 genomes]
rs11136454	1.00[ASN][1000 genomes]
rs11136467	1.00[CHB][hapmap]
rs13257924	1.00[CHB][hapmap]
rs13260541	1.00[ASN][1000 genomes]
rs13267164	1.00[ASN][1000 genomes]
rs13271878	1.00[ASN][1000 genomes]
rs13272508	1.00[ASN][1000 genomes]
rs13276575	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13279574	1.00[ASN][1000 genomes]
rs14375	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2004868	0.91[EUR][1000 genomes]
rs2004869	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414137	1.00[ASN][1000 genomes]
rs34295832	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36144043	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824186	1.00[CHB][hapmap]
rs4546706	1.00[ASN][1000 genomes]
rs4598291	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs5025039	1.00[ASN][1000 genomes]
rs6558566	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6981540	1.00[ASN][1000 genomes]
rs6984792	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6984824	1.00[ASN][1000 genomes]
rs7015556	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73184743	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184745	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184750	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184755	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184758	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7386016	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7386034	1.00[ASN][1000 genomes]
rs7386548	1.00[ASN][1000 genomes]
rs7386994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387198	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314443	1.00[ASN][1000 genomes]
rs9644316	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9650490	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1019578	chr8:1926059-1965389	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3339413	chr8:1947645-1953143	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv1820032	chr8:1947938-1954464	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv1817590	chr8:1947938-1958001	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv1820836	chr8:1949838-1953194	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1949400-1953600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:1949800-1953600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:1949800-1956800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:1950000-1955200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:1950000-1955600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:1950200-1953600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:1950200-1953800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:1950400-1955200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr8:1950600-1953600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:1950600-1954600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:1950600-1954600	Weak transcription	Brain Germinal Matrix	brain
12	chr8:1950600-1955000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:1950600-1957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:1950600-1958200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:1950800-1953600	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:1950800-1953800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:1950800-1954000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:1950800-1954600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:1950800-1954800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:1951000-1953200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:1951000-1953200	Weak transcription	Lung	lung
22	chr8:1951000-1955800	Weak transcription	Colonic Mucosa	Colon
23	chr8:1951400-1955600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:1951600-1953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:1951600-1953600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:1951600-1953600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:1951600-1953600	Weak transcription	Spleen	Spleen
28	chr8:1951600-1954000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:1951600-1954000	Enhancers	Fetal Intestine Large	intestine
30	chr8:1951600-1955200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:1951600-1955200	Weak transcription	Pancreas	Pancrea
32	chr8:1951600-1955400	Weak transcription	Fetal Brain Male	brain
33	chr8:1951600-1958800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:1951800-1953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:1951800-1953200	Weak transcription	Liver	Liver
36	chr8:1951800-1953400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:1952000-1953400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:1952000-1955000	Weak transcription	Fetal Brain Female	brain
39	chr8:1952200-1953600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:1952200-1953600	Enhancers	HSMM	muscle
41	chr8:1952200-1956000	Enhancers	Brain Substantia Nigra	brain
42	chr8:1952400-1953600	Weak transcription	Brain Anterior Caudate	brain
43	chr8:1952600-1953800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:1952600-1955200	Enhancers	HSMMtube	muscle
45	chr8:1952600-1955800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr8:1952800-1953200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:1952800-1953400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:1952800-1953600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr8:1952800-1954200	Enhancers	Psoas Muscle	Psoas
50	chr8:1953000-1953200	Enhancers	Duodenum Smooth Muscle	Duodenum

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