Variant report

Variant	rs73122823
Chromosome Location	chr1:222735370-222735371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222735151..222737667-chr1:222771171..222774025,2	K562	blood:
2	chr1:222735227..222738969-chr1:222739039..222743402,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1024065	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495194	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17463740	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464857	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17511318	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909194	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982983	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006790	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2936030	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2936039	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2936041	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2936044	0.84[EUR][1000 genomes]
rs2936045	0.84[EUR][1000 genomes]
rs2936046	0.84[EUR][1000 genomes]
rs3002130	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008645	0.89[EUR][1000 genomes]
rs3008647	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3008653	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3008654	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008655	0.82[EUR][1000 genomes]
rs35750438	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328077	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122816	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122834	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122837	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122849	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122850	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122857	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145503	0.94[AMR][1000 genomes]
rs74148133	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74148140	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74148142	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441828	0.86[EUR][1000 genomes]
rs9441911	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv2762168	chr1:222717698-222736854	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720800-222742400	Weak transcription	NHLF	lung
2	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
3	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
6	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:222723800-222742400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:222724800-222750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:222726600-222736800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:222727200-222737200	Strong transcription	Primary B cells from cord blood	blood
13	chr1:222727600-222737400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
15	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
16	chr1:222728000-222744400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
18	chr1:222728400-222737400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:222728400-222738600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:222728600-222737000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:222728600-222744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:222728800-222736200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:222728800-222737000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:222728800-222737200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:222728800-222737200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:222728800-222737400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:222728800-222746400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:222729000-222737400	Strong transcription	Dnd41	blood
29	chr1:222729200-222736000	Strong transcription	Fetal Lung	lung
30	chr1:222729200-222736200	Strong transcription	Ovary	ovary
31	chr1:222729200-222737000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:222729200-222737200	Strong transcription	Placenta	Placenta
33	chr1:222729200-222737400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:222729200-222737400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:222729200-222737400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:222729200-222737600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:222729200-222737800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:222729200-222738800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:222729400-222736200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:222729400-222737400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:222729600-222737400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:222729800-222758800	Weak transcription	Pancreas	Pancrea
44	chr1:222730000-222737800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:222730200-222735400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:222730200-222742000	Weak transcription	HepG2	liver
47	chr1:222730400-222737800	Strong transcription	GM12878-XiMat	blood
48	chr1:222730400-222742800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:222730600-222737800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:222730600-222738600	Weak transcription	Fetal Heart	heart

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