Variant report

Variant	rs41268731
Chromosome Location	chr1:226821920-226821921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226821563..226822762-chr1:227015422..227016864,5	K562	blood:
2	chr1:226821718..226822347-chr1:226898739..226899348,3	MCF-7	breast:
3	chr1:226612095..226612846-chr1:226821698..226822342,3	MCF-7	breast:
4	chr1:226821864..226822630-chr1:227015469..227016387,6	MCF-7	breast:
5	chr1:226796607..226797490-chr1:226821558..226822493,2	K562	blood:
6	chr1:226820706..226823635-chr1:226824832..226827182,2	MCF-7	breast:
7	chr1:226821531..226822459-chr1:226874901..226875939,5	MCF-7	breast:
8	chr1:226821201..226822498-chr1:227015438..227016431,9	MCF-7	breast:
9	chr1:226821832..226824273-chr1:227126167..227129027,2	MCF-7	breast:
10	chr1:226821585..226822333-chr1:226899009..226899902,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3754388	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41440951	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4653456	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653458	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4653459	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4653460	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4653760	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4653761	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73098900	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226810600-226822600	Weak transcription	Gastric	stomach
3	chr1:226814200-226823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
5	chr1:226814600-226824200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:226814600-226824800	Weak transcription	Liver	Liver
7	chr1:226814800-226830400	Strong transcription	Thymus	Thymus
8	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
10	chr1:226815000-226823800	Weak transcription	Ovary	ovary
11	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
12	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:226817200-226825400	Strong transcription	Lung	lung
14	chr1:226817200-226828000	Weak transcription	Fetal Brain Female	brain
15	chr1:226817200-226830600	Strong transcription	Fetal Intestine Small	intestine
16	chr1:226817800-226822800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:226817800-226828000	Weak transcription	Aorta	Aorta
18	chr1:226818000-226824400	Weak transcription	Fetal Lung	lung
19	chr1:226818200-226826400	Weak transcription	Pancreas	Pancrea
20	chr1:226818600-226822400	Genic enhancers	Fetal Stomach	stomach
21	chr1:226818600-226823400	Enhancers	Primary B cells from cord blood	blood
22	chr1:226818600-226823400	Genic enhancers	Stomach Smooth Muscle	stomach
23	chr1:226818600-226825200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:226819000-226822200	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:226819200-226822400	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr1:226819200-226822800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:226819200-226825200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:226819200-226830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:226819400-226823200	Genic enhancers	Brain Hippocampus Middle	brain
30	chr1:226819600-226826600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:226819800-226822000	Enhancers	Brain Germinal Matrix	brain
32	chr1:226819800-226823000	Genic enhancers	Fetal Muscle Leg	muscle
33	chr1:226819800-226823200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:226819800-226824000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:226819800-226825400	Genic enhancers	Spleen	Spleen
36	chr1:226820000-226822000	Genic enhancers	Brain Inferior Temporal Lobe	brain
37	chr1:226820000-226822200	Genic enhancers	Brain Substantia Nigra	brain
38	chr1:226820000-226822800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:226820000-226823000	Strong transcription	Dnd41	blood
40	chr1:226820000-226824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:226820200-226822800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr1:226820200-226824000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:226820400-226822200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:226820400-226823000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr1:226820400-226828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr1:226820600-226822200	Genic enhancers	Rectal Smooth Muscle	rectum
48	chr1:226820600-226822400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:226820600-226822400	Genic enhancers	Brain Anterior Caudate	brain
50	chr1:226820600-226822800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links