Variant report

Variant	rs11211267
Chromosome Location	chr1:46821074-46821075
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46813919..46815528-chr1:46820664..46823527,3	K562	blood:
2	chr1:46811114..46815491-chr1:46820924..46824647,4	K562	blood:
3	chr1:46819041..46821136-chr1:46821260..46823285,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11802856	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804220	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11804982	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086460	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12096333	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35563048	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3931457	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57638901	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703596	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers 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	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer 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 target site	72 gene(s)	inside rSNPs	diseases
3	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
4	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv546162	chr1:46807597-46870761	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46807000-46827200	Weak transcription	Fetal Brain Male	brain
2	chr1:46807200-46827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:46807400-46831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:46807400-46832200	Strong transcription	Fetal Stomach	stomach
5	chr1:46807600-46835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:46807600-46844600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:46807800-46823200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:46807800-46824600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:46807800-46835000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:46808200-46821600	Weak transcription	Right Atrium	heart
11	chr1:46808600-46822200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:46808600-46831800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:46808600-46834600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:46808800-46823400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:46808800-46825200	Strong transcription	Placenta	Placenta
16	chr1:46809200-46831600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:46809200-46848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:46809400-46823800	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:46809600-46823200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:46810000-46822600	Weak transcription	Fetal Heart	heart
21	chr1:46810200-46831600	Strong transcription	Fetal Thymus	thymus
22	chr1:46810400-46832800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:46812400-46830600	Strong transcription	Fetal Intestine Large	intestine
24	chr1:46812600-46835200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:46813000-46835000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:46813400-46834600	Strong transcription	Fetal Intestine Small	intestine
27	chr1:46814000-46830800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:46814200-46830200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:46814200-46834800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:46814400-46822600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:46814600-46823600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:46814600-46834400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:46814800-46821400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:46814800-46823400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:46814800-46825000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr1:46815000-46823600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:46815000-46831600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:46815000-46831600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:46815200-46822400	Strong transcription	Brain Hippocampus Middle	brain
40	chr1:46815200-46822600	Strong transcription	HMEC	breast
41	chr1:46815200-46823800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:46815200-46835000	Strong transcription	Liver	Liver
43	chr1:46815200-46835200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:46815800-46826400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:46815800-46827000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:46816000-46821600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:46816000-46822200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:46816000-46822600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:46816000-46826400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:46816600-46826800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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