Variant report

Variant	rs2954768
Chromosome Location	chr17:15346374-15346375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1019092	0.89[AMR][1000 genomes]
rs1548679	0.93[AMR][1000 genomes]
rs1548680	0.93[AMR][1000 genomes]
rs2108757	0.97[AMR][1000 genomes]
rs2190914	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes]
rs2323734	0.94[AMR][1000 genomes]
rs2875140	0.90[AMR][1000 genomes]
rs2906977	0.91[AMR][1000 genomes]
rs2906979	0.80[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes]
rs2906983	0.93[AMR][1000 genomes]
rs2906984	0.91[AMR][1000 genomes]
rs2906985	0.93[AMR][1000 genomes]
rs2906987	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs2906989	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2954749	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2954750	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2954752	0.81[ASN][1000 genomes]
rs2954753	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2954756	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2954760	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2954762	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2954763	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2954765	0.96[EUR][1000 genomes]
rs2954767	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2954770	0.93[AMR][1000 genomes]
rs2954771	0.84[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes]
rs2954772	0.93[AMR][1000 genomes]
rs2954774	0.93[AMR][1000 genomes]
rs2954775	0.93[AMR][1000 genomes]
rs2954776	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes]
rs2954777	0.97[AMR][1000 genomes]
rs2954778	0.97[AMR][1000 genomes]
rs2954779	0.89[AMR][1000 genomes]
rs6502450	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs728854	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes]
rs729356	0.93[AMR][1000 genomes]
rs729357	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes]
rs887034	0.97[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
7	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv978367	chr17:15346054-15348386	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15333600-15361000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:15335600-15348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:15336600-15347600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:15338400-15362200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr17:15339400-15354800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:15339400-15358800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:15339600-15367000	Weak transcription	A549	lung
8	chr17:15340000-15355400	Weak transcription	Hela-S3	cervix
9	chr17:15340000-15355800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr17:15340000-15357400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:15340200-15348000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:15340200-15354800	Weak transcription	Osteobl	bone
13	chr17:15340200-15355600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:15340400-15348000	Weak transcription	Ovary	ovary
15	chr17:15340400-15355600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:15340400-15356000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:15340400-15359000	Weak transcription	Colon Smooth Muscle	Colon
18	chr17:15340600-15348000	Weak transcription	Primary T cells from cord blood	blood
19	chr17:15340600-15348000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:15340600-15359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:15340600-15360200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:15340600-15360200	Weak transcription	Fetal Thymus	thymus
23	chr17:15340600-15366200	Weak transcription	Gastric	stomach
24	chr17:15340600-15366800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:15340600-15399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:15340800-15348000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:15340800-15348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr17:15340800-15348200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:15341000-15348200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:15341000-15351800	Weak transcription	Pancreas	Pancrea
31	chr17:15341200-15348000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:15341200-15352000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr17:15341200-15355600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr17:15341200-15356200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:15341200-15359800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:15341400-15347200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:15341400-15347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:15341400-15348000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:15341400-15351400	Weak transcription	Fetal Muscle Leg	muscle
40	chr17:15341400-15355400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:15341400-15356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:15341400-15359600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr17:15341400-15360200	Weak transcription	Aorta	Aorta
44	chr17:15341400-15360800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:15341400-15366800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:15341400-15366800	Weak transcription	Esophagus	oesophagus
47	chr17:15341400-15368400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr17:15341400-15375800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr17:15341600-15347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:15341600-15357200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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