Variant report

Variant	rs942251
Chromosome Location	chr1:46956277-46956278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46954689..46956415-chr1:46980499..46982105,2	K562	blood:
2	chr1:46949358..46952077-chr1:46954011..46956367,2	K562	blood:
3	chr1:46922290..46924854-chr1:46955635..46957608,2	K562	blood:
4	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:
5	chr1:46954039..46957769-chr1:46958689..46962771,8	K562	blood:
6	chr1:46954395..46956906-chr1:46986850..46988638,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11211291	0.92[ASN][1000 genomes]
rs11211292	0.92[ASN][1000 genomes]
rs11211294	0.90[ASN][1000 genomes]
rs11580235	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12058191	0.86[ASN][1000 genomes]
rs12073541	0.92[ASN][1000 genomes]
rs12402727	0.94[EUR][1000 genomes]
rs12562748	0.92[ASN][1000 genomes]
rs12567122	0.82[ASN][1000 genomes]
rs12567368	0.82[ASN][1000 genomes]
rs12567374	0.82[ASN][1000 genomes]
rs12732772	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12742745	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12759113	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1886116	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2404583	0.96[EUR][1000 genomes]
rs35827425	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41294766	0.82[ASN][1000 genomes]
rs55644055	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57363509	0.82[ASN][1000 genomes]
rs72892772	0.92[ASN][1000 genomes]
rs7551162	0.92[ASN][1000 genomes]
rs998726	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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 target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46951200-46957200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:46953800-46956600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr1:46954600-46957000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:46954800-46956400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:46954800-46957000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:46955000-46956400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:46955000-46956400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:46955000-46956400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:46955000-46956600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:46955000-46956800	Bivalent Enhancer	Fetal Brain Male	brain
11	chr1:46955200-46956400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr1:46955200-46956400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
13	chr1:46955200-46956600	Enhancers	Lung	lung
14	chr1:46955200-46956600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
15	chr1:46955200-46956600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
16	chr1:46955400-46956400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:46955400-46956600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
18	chr1:46955400-46956600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr1:46955600-46956400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr1:46955600-46956400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:46955600-46956400	Bivalent Enhancer	Liver	Liver
22	chr1:46955600-46956400	Bivalent Enhancer	Fetal Lung	lung
23	chr1:46955600-46956600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:46955600-46956600	Enhancers	Aorta	Aorta
25	chr1:46955600-46956600	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr1:46955600-46956600	Bivalent Enhancer	Ovary	ovary
27	chr1:46955600-46956800	Bivalent Enhancer	Left Ventricle	heart
28	chr1:46955800-46956400	Bivalent Enhancer	Primary T cells from cord blood	blood
29	chr1:46955800-46956400	Bivalent Enhancer	Spleen	Spleen
30	chr1:46955800-46956400	Bivalent Enhancer	NH-A	brain
31	chr1:46955800-46956600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:46955800-46956600	Bivalent Enhancer	Placenta	Placenta
33	chr1:46955800-46956600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr1:46955800-46956800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr1:46955800-46956800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr1:46955800-46957000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:46955800-46957000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr1:46955800-46957200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:46956000-46956400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:46956000-46956400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:46956000-46956400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:46956000-46956400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr1:46956000-46956400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr1:46956000-46956400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:46956000-46956400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:46956000-46956400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:46956000-46956400	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr1:46956000-46956400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr1:46956000-46956400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
50	chr1:46956000-46956400	Bivalent/Poised TSS	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links