Variant report

Variant	rs11672848
Chromosome Location	chr19:37570704-37570705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37568801..37570844-chr19:37707204..37709199,3	K562	blood:
2	chr19:37569539..37571299-chr19:37572694..37574980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188283	Chromatin interaction
ENSG00000245680	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10402907	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10403718	0.86[EUR][1000 genomes]
rs10403728	0.87[EUR][1000 genomes]
rs10403975	0.89[EUR][1000 genomes]
rs10406110	0.87[EUR][1000 genomes]
rs10408085	0.85[EUR][1000 genomes]
rs10408359	0.85[EUR][1000 genomes]
rs10413360	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10413385	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10414520	0.86[EUR][1000 genomes]
rs10419643	0.86[EUR][1000 genomes]
rs10420330	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10421509	0.86[EUR][1000 genomes]
rs10853950	0.87[EUR][1000 genomes]
rs1095490	0.86[ASN][1000 genomes]
rs11084874	0.87[EUR][1000 genomes]
rs11084875	0.85[EUR][1000 genomes]
rs11666786	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11879644	0.86[EUR][1000 genomes]
rs11879645	0.86[EUR][1000 genomes]
rs11881645	0.86[EUR][1000 genomes]
rs12980849	0.83[EUR][1000 genomes]
rs12984458	0.86[EUR][1000 genomes]
rs1402468	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1667377	0.82[ASN][1000 genomes]
rs1667378	0.82[EUR][1000 genomes]
rs1667379	0.82[ASN][1000 genomes]
rs1667380	0.82[ASN][1000 genomes]
rs17206540	0.86[EUR][1000 genomes]
rs1818748	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1829603	0.86[EUR][1000 genomes]
rs2082009	0.86[EUR][1000 genomes]
rs2082010	0.86[EUR][1000 genomes]
rs2090805	0.81[EUR][1000 genomes]
rs2118208	0.86[EUR][1000 genomes]
rs2118209	0.86[EUR][1000 genomes]
rs2263166	0.86[EUR][1000 genomes]
rs2385373	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2385374	0.87[EUR][1000 genomes]
rs2385375	0.88[EUR][1000 genomes]
rs2551049	0.82[EUR][1000 genomes]
rs2562585	0.86[EUR][1000 genomes]
rs2562591	0.86[EUR][1000 genomes]
rs2562607	0.86[EUR][1000 genomes]
rs2595555	0.81[ASN][1000 genomes]
rs28528332	0.86[EUR][1000 genomes]
rs2891754	0.88[EUR][1000 genomes]
rs2891766	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35162188	0.88[EUR][1000 genomes]
rs35524127	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35579954	0.86[EUR][1000 genomes]
rs35998183	0.86[EUR][1000 genomes]
rs36096221	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3902013	0.86[EUR][1000 genomes]
rs3929570	0.86[EUR][1000 genomes]
rs4117556	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4239587	0.86[EUR][1000 genomes]
rs4254428	0.87[EUR][1000 genomes]
rs4414605	0.84[EUR][1000 genomes]
rs4805199	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4805201	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4805202	0.86[EUR][1000 genomes]
rs4805203	0.86[EUR][1000 genomes]
rs4805204	0.86[EUR][1000 genomes]
rs4805205	0.86[EUR][1000 genomes]
rs4806407	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806408	0.87[EUR][1000 genomes]
rs4806409	0.87[EUR][1000 genomes]
rs4806411	0.86[EUR][1000 genomes]
rs4806412	0.86[EUR][1000 genomes]
rs56154134	0.86[EUR][1000 genomes]
rs62108896	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6510580	0.86[EUR][1000 genomes]
rs6510585	0.86[EUR][1000 genomes]
rs6510587	0.82[ASN][1000 genomes]
rs6510588	0.86[EUR][1000 genomes]
rs6510591	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6510592	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6510593	0.86[EUR][1000 genomes]
rs703527	0.84[ASN][1000 genomes]
rs703531	0.86[EUR][1000 genomes]
rs7245453	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7245520	0.86[EUR][1000 genomes]
rs7245882	0.87[EUR][1000 genomes]
rs7246022	0.86[EUR][1000 genomes]
rs7246720	0.87[EUR][1000 genomes]
rs7246739	0.86[EUR][1000 genomes]
rs7248132	0.85[EUR][1000 genomes]
rs7248948	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7250507	0.87[EUR][1000 genomes]
rs7253730	0.82[EUR][1000 genomes]
rs7255576	0.86[EUR][1000 genomes]
rs7255724	0.87[EUR][1000 genomes]
rs7256380	0.86[EUR][1000 genomes]
rs7257320	0.89[EUR][1000 genomes]
rs7257633	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7258360	0.86[EUR][1000 genomes]
rs7258650	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7259332	0.87[EUR][1000 genomes]
rs7259915	0.85[EUR][1000 genomes]
rs7260488	0.86[EUR][1000 genomes]
rs7260599	0.86[EUR][1000 genomes]
rs8099987	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105065	0.86[EUR][1000 genomes]
rs8105621	0.86[EUR][1000 genomes]
rs8108429	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8108509	0.86[EUR][1000 genomes]
rs8109501	0.86[EUR][1000 genomes]
rs8110158	0.86[EUR][1000 genomes]
rs8110796	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8111285	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8113822	0.86[EUR][1000 genomes]
rs826324	0.86[EUR][1000 genomes]
rs826325	0.82[ASN][1000 genomes]
rs826326	0.82[ASN][1000 genomes]
rs826327	0.84[EUR][1000 genomes]
rs826328	0.82[ASN][1000 genomes]
rs826329	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs826330	0.80[EUR][1000 genomes]
rs826331	0.84[ASN][1000 genomes]

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	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers 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
13	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
14	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11672848	ZNF585B	cis	Artery Tibial	GTEx
rs11672848	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37569800-37570800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr19:37570000-37570800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:37570000-37570800	Enhancers	Spleen	Spleen
4	chr19:37570000-37571400	Enhancers	Primary B cells from peripheral blood	blood
5	chr19:37570000-37571400	Flanking Active TSS	Dnd41	blood
6	chr19:37570000-37573000	Weak transcription	Aorta	Aorta
7	chr19:37570200-37570800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:37570200-37570800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:37570200-37570800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:37570200-37570800	Enhancers	Placenta	Placenta
11	chr19:37570200-37571000	Enhancers	Thymus	Thymus
12	chr19:37570200-37571200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:37570400-37570800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr19:37570400-37570800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr19:37570400-37570800	Enhancers	Fetal Muscle Trunk	muscle
16	chr19:37570400-37571200	Enhancers	Psoas Muscle	Psoas
17	chr19:37570400-37571200	Enhancers	Right Ventricle	heart
18	chr19:37570400-37571400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:37570400-37571600	Weak transcription	Fetal Intestine Small	intestine
20	chr19:37570400-37572800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:37570400-37576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:37570600-37570800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:37570600-37570800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr19:37570600-37570800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:37570600-37570800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:37570600-37570800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:37570600-37570800	Active TSS	Adipose Nuclei	Adipose
28	chr19:37570600-37570800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr19:37570600-37570800	Active TSS	Hela-S3	cervix
30	chr19:37570600-37570800	Active TSS	HepG2	liver
31	chr19:37570600-37571000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:37570600-37571000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:37570600-37571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:37570600-37571000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:37570600-37571000	Weak transcription	Fetal Brain Female	brain
36	chr19:37570600-37571200	Enhancers	Brain Germinal Matrix	brain
37	chr19:37570600-37571200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr19:37570600-37571200	Weak transcription	Ovary	ovary
39	chr19:37570600-37571400	Enhancers	Brain Cingulate Gyrus	brain
40	chr19:37570600-37571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:37570600-37571600	Enhancers	Primary T cells from cord blood	blood
42	chr19:37570600-37571800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr19:37570600-37572400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:37570600-37572400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:37570600-37572600	Weak transcription	K562	blood
46	chr19:37570600-37572800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:37570600-37572800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:37570600-37572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:37570600-37572800	Weak transcription	Primary B cells from cord blood	blood
50	chr19:37570600-37572800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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