Variant report

Variant	rs66520928
Chromosome Location	chr1:226372266-226372267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226370401..226372678-chr1:226386558..226389144,3	K562	blood:
2	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
3	chr1:226343198..226345651-chr1:226370784..226374218,4	K562	blood:
4	chr1:226338462..226340650-chr1:226371216..226373411,2	K562	blood:
5	chr1:226343233..226345651-chr1:226372264..226374218,2	K562	blood:
6	chr1:226251126..226252830-chr1:226370586..226372718,2	K562	blood:

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1043641	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10495243	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12402078	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56381945	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58322813	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58416350	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66527714	0.87[AFR][1000 genomes]
rs67431141	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67696165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72759068	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72759069	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72759091	0.82[AFR][1000 genomes]
rs72759098	0.91[EUR][1000 genomes]
rs9659809	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9662238	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9727021	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9727329	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
5	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
9	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:226353800-226372800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:226354000-226372400	Weak transcription	Thymus	Thymus
12	chr1:226354200-226373000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:226358800-226373400	Weak transcription	Gastric	stomach
14	chr1:226361000-226372800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:226364000-226373800	Weak transcription	Spleen	Spleen
16	chr1:226368200-226373000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:226368600-226372800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:226368800-226372800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:226369200-226372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:226369200-226372800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:226369600-226373400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:226369800-226372800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:226369800-226373200	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:226370000-226372400	Strong transcription	Fetal Lung	lung
25	chr1:226370200-226372800	Weak transcription	Fetal Brain Male	brain
26	chr1:226370200-226373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:226370400-226372400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:226370400-226372400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:226370400-226372400	Strong transcription	Fetal Stomach	stomach
30	chr1:226370400-226372800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:226370400-226373000	Weak transcription	Pancreas	Pancrea
32	chr1:226370400-226373000	Weak transcription	Right Ventricle	heart
33	chr1:226370400-226373200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:226370600-226372400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:226370600-226372400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:226370600-226372400	Weak transcription	Left Ventricle	heart
37	chr1:226370600-226372400	Weak transcription	Psoas Muscle	Psoas
38	chr1:226370600-226372800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:226370600-226372800	Enhancers	Primary B cells from cord blood	blood
40	chr1:226370600-226373000	Weak transcription	Fetal Thymus	thymus
41	chr1:226370600-226373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:226370600-226373400	Weak transcription	Lung	lung
43	chr1:226370800-226372400	Weak transcription	Fetal Intestine Large	intestine
44	chr1:226370800-226372600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:226370800-226372800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:226370800-226372800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:226371000-226372400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:226371200-226372400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:226371200-226373000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:226371400-226372600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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