Variant report

Variant	rs4805208
Chromosome Location	chr19:37674259-37674260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37672779..37674398-chr19:37681782..37683371,2	K562	blood:
2	chr19:37668184..37670012-chr19:37672893..37674579,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF585B-3	chr19:37672482-37674920	NONHSAT066075

Extended variants
information (count: 72 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10401380	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10401525	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10401561	0.82[EUR][1000 genomes]
rs10402050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10404069	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10404973	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10405372	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10406612	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10407014	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10407224	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407265	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10408199	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10410905	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10411037	0.83[EUR][1000 genomes]
rs10411176	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10412236	0.81[EUR][1000 genomes]
rs10413101	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10413304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10414107	0.82[EUR][1000 genomes]
rs10414227	0.81[ASN][1000 genomes]
rs10414983	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10417545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418314	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10419174	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10422428	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10424841	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10425441	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10426093	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11084873	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12972146	0.84[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975869	0.81[EUR][1000 genomes]
rs12978093	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12983153	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13346284	0.82[EUR][1000 genomes]
rs1617883	0.83[EUR][1000 genomes]
rs2385412	0.82[EUR][1000 genomes]
rs28462002	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28631881	0.80[EUR][1000 genomes]
rs28660259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701616	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34193103	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34915391	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35522655	0.82[EUR][1000 genomes]
rs35655645	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4473303	0.92[ASN][1000 genomes]
rs4805198	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4805207	0.86[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806406	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4806414	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62108899	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62109879	0.83[EUR][1000 genomes]
rs7246473	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7247758	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7249696	0.81[ASN][1000 genomes]
rs7259878	0.82[EUR][1000 genomes]
rs8101338	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8111936	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8112011	0.91[CEU][hapmap];0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
11	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv3433517	chr19:37643755-37675928	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4805208	CBLC	cis	parietal	SCAN
rs4805208	EXOSC5	cis	cerebellum	SCAN
rs4805208	VASP	cis	parietal	SCAN
rs4805208	MEGF8	cis	cerebellum	SCAN
rs4805208	AXL	cis	cerebellum	SCAN
rs4805208	DMPK	cis	parietal	SCAN
rs4805208	SNRPD2	cis	parietal	SCAN
rs4805208	ZNF420	cis	lymphoblastoid	seeQTL
rs4805208	PAFAH1B3	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37664200-37675400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:37668000-37686000	ZNF genes & repeats	Liver	Liver
3	chr19:37670000-37681200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:37672000-37674800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
5	chr19:37672000-37676000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37672000-37686400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:37672200-37674800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr19:37672200-37675200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr19:37672200-37676000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:37672200-37686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:37672600-37674600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:37672800-37675000	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr19:37672800-37675600	ZNF genes & repeats	Left Ventricle	heart
14	chr19:37672800-37675600	ZNF genes & repeats	Ovary	ovary
15	chr19:37672800-37676000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr19:37672800-37676200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr19:37672800-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:37673000-37674400	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr19:37673000-37674600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
20	chr19:37673000-37674600	ZNF genes & repeats	Dnd41	blood
21	chr19:37673000-37675800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:37673000-37675800	ZNF genes & repeats	Fetal Brain Female	brain
23	chr19:37673200-37674400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
24	chr19:37673200-37674600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:37673200-37674600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
26	chr19:37673200-37674600	ZNF genes & repeats	Fetal Lung	lung
27	chr19:37673200-37674600	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr19:37673200-37674600	ZNF genes & repeats	Psoas Muscle	Psoas
29	chr19:37673200-37674800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:37673200-37674800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr19:37673200-37675000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:37673200-37675200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr19:37673200-37675200	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr19:37673200-37675800	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr19:37673200-37679000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
36	chr19:37673200-37690600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr19:37673400-37674400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr19:37673400-37674600	ZNF genes & repeats	Fetal Brain Male	brain
39	chr19:37673400-37674600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
40	chr19:37673400-37675000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr19:37673400-37675000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:37673400-37675200	ZNF genes & repeats	Pancreas	Pancrea
43	chr19:37673400-37675600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:37673400-37675800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:37673400-37676000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:37673400-37685400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:37673600-37674600	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr19:37673600-37674800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:37673600-37674800	ZNF genes & repeats	Fetal Stomach	stomach
50	chr19:37673600-37675200	ZNF genes & repeats	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links