Variant report

Variant	rs1070361
Chromosome Location	chr1:226882660-226882661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226882442..226884096-chr1:226888303..226891142,2	MCF-7	breast:
2	chr1:226880308..226883489-chr1:226893060..226896461,3	K562	blood:
3	chr1:226880953..226883068-chr1:226884444..226887006,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1071530	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288936	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1288938	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1288939	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768393	0.99[ASN][1000 genomes]
rs3768396	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820640	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697847	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs708766	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[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	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
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226868200-226884600	Enhancers	Brain Substantia Nigra	brain
2	chr1:226868600-226884800	Weak transcription	Fetal Kidney	kidney
3	chr1:226868600-226888200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226869000-226884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:226869000-226884200	Weak transcription	NHLF	lung
6	chr1:226869000-226884400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:226870000-226888800	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr1:226872800-226890000	Weak transcription	Pancreas	Pancrea
9	chr1:226873400-226884600	Weak transcription	Gastric	stomach
10	chr1:226874400-226885200	Weak transcription	Colonic Mucosa	Colon
11	chr1:226875200-226884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:226876600-226884400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:226876600-226885000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:226876800-226884800	Weak transcription	HSMM	muscle
15	chr1:226876800-226887600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:226876800-226890400	Genic enhancers	Primary T cells from cord blood	blood
17	chr1:226877200-226884600	Weak transcription	NHDF-Ad	bronchial
18	chr1:226877800-226890200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:226878400-226890800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:226878600-226883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:226878600-226889400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:226878600-226889600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:226878800-226883200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:226879000-226883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:226879000-226883600	Weak transcription	HMEC	breast
26	chr1:226879000-226884000	Weak transcription	Fetal Heart	heart
27	chr1:226879000-226884000	Weak transcription	NHEK	skin
28	chr1:226879000-226886600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:226879200-226883200	Weak transcription	Esophagus	oesophagus
30	chr1:226879200-226885000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:226879200-226890800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:226879400-226883200	Weak transcription	Fetal Intestine Small	intestine
33	chr1:226879400-226883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:226879600-226883600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:226879600-226883600	Enhancers	Brain Hippocampus Middle	brain
36	chr1:226879600-226884200	Weak transcription	HUVEC	blood vessel
37	chr1:226879800-226884200	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr1:226879800-226884400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:226879800-226890200	Weak transcription	Fetal Intestine Large	intestine
40	chr1:226880000-226883200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:226880000-226884600	Weak transcription	NH-A	brain
42	chr1:226880200-226885200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:226880200-226888800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:226880200-226888800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:226880400-226883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:226880400-226886000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:226880800-226883200	Strong transcription	Fetal Thymus	thymus
48	chr1:226880800-226884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:226880800-226884400	Weak transcription	Small Intestine	intestine
50	chr1:226880800-226884800	Weak transcription	Primary hematopoietic stem cells	blood

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