Variant report

Variant	rs59318837
Chromosome Location	chr6:161504697-161504698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161503095..161506959-chr6:161507248..161511122,5	K562	blood:
2	chr6:161498068..161500201-chr6:161502387..161505321,2	K562	blood:
3	chr6:161503630..161505662-chr6:161512617..161514367,2	K562	blood:
4	chr6:161484345..161486496-chr6:161504631..161506495,2	K562	blood:
5	chr6:161411971..161414738-chr6:161504105..161507225,3	K562	blood:

Variant related genes	Relation type
ENSG00000272841	Chromatin interaction
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001756	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751634	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11751688	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11751843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752188	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11753446	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11755042	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11755244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11757223	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11757309	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757882	0.83[AMR][1000 genomes]
rs11758794	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759000	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759408	0.87[AMR][1000 genomes]
rs11962121	0.97[EUR][1000 genomes]
rs1464781	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562025	0.97[EUR][1000 genomes]
rs2314377	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798916	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41268545	0.87[AMR][1000 genomes]
rs55799452	0.87[AMR][1000 genomes]
rs57922639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58040353	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59129068	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907956	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922534	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940321	1.00[ASN][1000 genomes]
rs719474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738423	0.87[EUR][1000 genomes]
rs9456635	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456636	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458121	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458135	0.84[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	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
2	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
3	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:161486200-161519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:161490000-161508000	Weak transcription	Fetal Heart	heart
7	chr6:161490800-161508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr6:161491200-161508400	Weak transcription	Stomach Mucosa	stomach
10	chr6:161491600-161516400	Strong transcription	Placenta	Placenta
11	chr6:161491600-161525400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:161492200-161513800	Strong transcription	Fetal Intestine Large	intestine
16	chr6:161493800-161521400	Strong transcription	Fetal Thymus	thymus
17	chr6:161494000-161505600	Strong transcription	GM12878-XiMat	blood
18	chr6:161494400-161509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:161494400-161512600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:161494400-161513400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:161494400-161515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:161494400-161525600	Strong transcription	Dnd41	blood
23	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr6:161494800-161513800	Strong transcription	Fetal Brain Female	brain
25	chr6:161495000-161505800	Strong transcription	Lung	lung
26	chr6:161495000-161512800	Strong transcription	Ovary	ovary
27	chr6:161495000-161513400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr6:161495200-161513200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:161495400-161512600	Strong transcription	Fetal Stomach	stomach
31	chr6:161495400-161515400	Strong transcription	Fetal Lung	lung
32	chr6:161495400-161516400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:161495600-161507000	Strong transcription	Fetal Intestine Small	intestine
34	chr6:161495600-161512800	Strong transcription	Fetal Muscle Leg	muscle
35	chr6:161496000-161508200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:161496400-161506600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:161497000-161512600	Strong transcription	Thymus	Thymus
39	chr6:161497000-161513000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:161497400-161508600	Weak transcription	Right Atrium	heart
41	chr6:161497800-161539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:161498000-161541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:161498200-161515400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:161498600-161525600	Strong transcription	Primary T cells from cord blood	blood
45	chr6:161499000-161512800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:161499000-161531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:161499200-161515400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:161499200-161517000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr6:161499400-161505400	Weak transcription	Brain Substantia Nigra	brain
50	chr6:161499400-161511000	Strong transcription	Primary hematopoietic stem cells	blood

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