Variant report

Variant	rs17464254
Chromosome Location	chr1:222737481-222737482
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222737305..222739948-chr1:222766255..222768391,2	K562	blood:
2	chr1:222736245..222737818-chr1:222743428..222745666,2	K562	blood:
3	chr1:222735151..222737667-chr1:222771171..222774025,2	K562	blood:
4	chr1:222736887..222738609-chr1:222790613..222792920,2	MCF-7	breast:
5	chr1:222736167..222737997-chr1:222772404..222774025,2	K562	blood:
6	chr1:222735935..222738524-chr1:222739039..222741294,2	K562	blood:
7	chr1:222735227..222738969-chr1:222739039..222743402,4	K562	blood:
8	chr1:222736282..222738012-chr1:222762260..222764333,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000225265	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936032	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs3008642	0.82[EUR][1000 genomes]
rs34093838	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34853495	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66463396	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67870673	0.87[EUR][1000 genomes]
rs67991082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72738206	0.89[EUR][1000 genomes]
rs72738208	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	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	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
5	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	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
12	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
13	chr1:222728000-222744400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
15	chr1:222728400-222738600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:222728600-222744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:222728800-222746400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:222729200-222737600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:222729200-222737800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:222729200-222738800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:222729800-222758800	Weak transcription	Pancreas	Pancrea
23	chr1:222730000-222737800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:222730200-222742000	Weak transcription	HepG2	liver
25	chr1:222730400-222737800	Strong transcription	GM12878-XiMat	blood
26	chr1:222730400-222742800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:222730600-222737800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:222730600-222738600	Weak transcription	Fetal Heart	heart
29	chr1:222730800-222741800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:222730800-222741800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:222730800-222760200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:222730800-222761200	Weak transcription	Fetal Brain Male	brain
33	chr1:222731000-222738400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:222731200-222742200	Weak transcription	Osteobl	bone
35	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
36	chr1:222731600-222742200	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:222731600-222742200	Weak transcription	Fetal Stomach	stomach
38	chr1:222731600-222745200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:222731600-222748600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:222731600-222756200	Weak transcription	Esophagus	oesophagus
41	chr1:222731600-222758800	Weak transcription	Gastric	stomach
42	chr1:222731600-222762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:222731800-222743200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:222732200-222737800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:222733200-222745000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:222733600-222739600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:222733600-222739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:222733800-222739000	Weak transcription	Lung	lung
50	chr1:222733800-222741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links