Variant report

Variant	rs170683
Chromosome Location	chr14:65202230-65202231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65201615..65203157-chr14:65220105..65223085,2	K562	blood:
2	chr14:65195242..65196824-chr14:65201352..65202977,2	MCF-7	breast:
3	chr14:65160629..65162751-chr14:65201298..65203943,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10138034	0.96[EUR][1000 genomes]
rs11621159	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621379	0.89[EUR][1000 genomes]
rs11622754	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11625500	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628301	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883289	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884903	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12892852	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895353	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553163	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs170685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs229648	1.00[ASN][1000 genomes]
rs229649	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229656	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340219	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71420472	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732311	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943995	0.96[AMR][1000 genomes];0.96[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	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
2	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:65192400-65210400	Weak transcription	Osteobl	bone
4	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
5	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
7	chr14:65193600-65203200	Strong transcription	Fetal Stomach	stomach
8	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
10	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:65194000-65203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:65194000-65203000	Strong transcription	Placenta	Placenta
14	chr14:65194000-65209000	Weak transcription	Small Intestine	intestine
15	chr14:65194200-65204800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:65194600-65202800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:65194600-65203000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:65195000-65202400	Strong transcription	NHEK	skin
20	chr14:65195000-65207200	Weak transcription	Primary B cells from cord blood	blood
21	chr14:65195200-65202600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:65195800-65203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:65196000-65208200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:65196600-65203400	Weak transcription	Right Atrium	heart
25	chr14:65196600-65212200	Weak transcription	NHLF	lung
26	chr14:65197000-65202800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:65197000-65203000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:65197000-65203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:65197200-65206000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:65197800-65203000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:65198000-65214800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:65199000-65202800	Weak transcription	HepG2	liver
33	chr14:65199000-65205200	Weak transcription	NH-A	brain
34	chr14:65199200-65202600	Weak transcription	Fetal Kidney	kidney
35	chr14:65199600-65207800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:65199800-65202600	Weak transcription	Hela-S3	cervix
37	chr14:65199800-65202800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:65199800-65202800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:65199800-65202800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:65199800-65202800	Weak transcription	Lung	lung
41	chr14:65199800-65203000	Weak transcription	Brain Angular Gyrus	brain
42	chr14:65199800-65203400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:65199800-65203800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:65199800-65205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:65199800-65205600	Weak transcription	Fetal Lung	lung
46	chr14:65200200-65202600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:65200200-65204400	Genic enhancers	Brain Hippocampus Middle	brain
48	chr14:65200400-65202800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:65200400-65202800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr14:65200400-65202800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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