Variant report

Variant	rs34671950
Chromosome Location	chr5:118323210-118323211
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39581660..39583614-chr5:118323067..118325473,2	MCF-7	breast:
2	chr5:118322493..118325395-chr5:118402550..118406560,4	K562	blood:
3	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction
ENSG00000239011	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000249494	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11959589	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144872	0.92[ASN][1000 genomes]
rs17144877	0.92[ASN][1000 genomes]
rs17144883	0.92[ASN][1000 genomes]
rs17144885	0.92[ASN][1000 genomes]
rs17144893	0.92[ASN][1000 genomes]
rs2084460	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392657	0.92[ASN][1000 genomes]
rs55741500	0.92[ASN][1000 genomes]
rs55805551	0.92[ASN][1000 genomes]
rs55811049	0.90[EUR][1000 genomes]
rs55968902	0.95[EUR][1000 genomes]
rs56664193	0.92[ASN][1000 genomes]
rs72784039	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73240722	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7706037	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7719250	0.86[EUR][1000 genomes]
rs7723221	0.83[AMR][1000 genomes];0.89[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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv969271	chr5:118317943-118323256	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118314600-118323400	Weak transcription	Aorta	Aorta
2	chr5:118316200-118323400	Weak transcription	Ovary	ovary
3	chr5:118316200-118323800	Weak transcription	Gastric	stomach
4	chr5:118320000-118323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:118321000-118323400	Weak transcription	HSMMtube	muscle
6	chr5:118321000-118323400	Weak transcription	NHLF	lung
7	chr5:118322200-118323400	Enhancers	Primary B cells from cord blood	blood
8	chr5:118322200-118323400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr5:118322400-118323400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:118322400-118323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:118322400-118324800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:118322800-118323400	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:118322800-118323400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:118322800-118323400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:118322800-118323600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:118322800-118323600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:118322800-118324400	Active TSS	Fetal Muscle Leg	muscle
18	chr5:118323000-118323400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:118323000-118323400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:118323000-118323400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:118323000-118323400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:118323000-118323400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:118323000-118323400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:118323000-118323400	Enhancers	Adipose Nuclei	Adipose
25	chr5:118323000-118323400	Enhancers	Brain Germinal Matrix	brain
26	chr5:118323000-118323400	Enhancers	Brain Substantia Nigra	brain
27	chr5:118323000-118323400	Enhancers	Fetal Brain Male	brain
28	chr5:118323000-118323400	Enhancers	Fetal Brain Female	brain
29	chr5:118323000-118323400	Enhancers	Fetal Intestine Small	intestine
30	chr5:118323000-118323400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:118323000-118323400	Flanking Active TSS	A549	lung
32	chr5:118323000-118323400	Flanking Active TSS	GM12878-XiMat	blood
33	chr5:118323000-118323400	Flanking Active TSS	HMEC	breast
34	chr5:118323000-118323400	Flanking Active TSS	K562	blood
35	chr5:118323000-118323400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:118323000-118323600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:118323000-118323600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr5:118323000-118323600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:118323000-118323600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:118323000-118323600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:118323000-118323600	Flanking Active TSS	Liver	Liver
42	chr5:118323000-118323600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr5:118323000-118323600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr5:118323000-118323600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr5:118323000-118323600	Flanking Active TSS	Hela-S3	cervix
46	chr5:118323000-118323800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:118323000-118323800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:118323000-118323800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr5:118323000-118323800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr5:118323000-118323800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links