Variant report

Variant	rs3108547
Chromosome Location	chr19:37156427-37156428
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37018139..37019685-chr19:37156038..37157932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228629	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10411411	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1053064	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12162275	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12973307	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12981751	0.94[AFR][1000 genomes]
rs2385640	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2462576	0.88[ASN][1000 genomes]
rs2912401	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2912402	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2912406	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2912416	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2912417	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2967424	0.89[EUR][1000 genomes]
rs2967455	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967470	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3096621	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3096626	0.83[EUR][1000 genomes]
rs3108169	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108170	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108175	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108180	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108198	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108199	0.94[EUR][1000 genomes]
rs3108200	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108207	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108213	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108220	0.85[ASN][1000 genomes]
rs3108548	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3108551	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108553	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108554	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108558	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108561	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108571	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108578	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108581	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108582	0.89[ASN][1000 genomes]
rs3108587	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3108588	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3108595	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108599	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108601	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108611	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3111543	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3111545	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3111546	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71337534	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7254978	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112546	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826979	0.84[ASN][1000 genomes]
rs826980	0.85[ASN][1000 genomes]
rs826986	0.89[ASN][1000 genomes]
rs865448	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3108547	ZNF529	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37134600-37157000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37143600-37156800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:37145200-37156600	Weak transcription	Fetal Heart	heart
4	chr19:37145600-37156600	Weak transcription	NHLF	lung
5	chr19:37145600-37156800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:37147400-37156600	Weak transcription	NHEK	skin
7	chr19:37147600-37156600	Weak transcription	HMEC	breast
8	chr19:37148000-37156800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:37149200-37156800	Weak transcription	Stomach Mucosa	stomach
10	chr19:37149600-37156800	Weak transcription	Fetal Thymus	thymus
11	chr19:37150000-37156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:37150200-37156600	Weak transcription	NH-A	brain
13	chr19:37150200-37156800	Weak transcription	Gastric	stomach
14	chr19:37150400-37156800	Weak transcription	Right Ventricle	heart
15	chr19:37150800-37156800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:37151000-37156600	Weak transcription	Brain Anterior Caudate	brain
17	chr19:37152200-37156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:37152200-37156600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:37153800-37157000	ZNF genes & repeats	A549	lung
20	chr19:37154000-37156600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:37154200-37157000	ZNF genes & repeats	GM12878-XiMat	blood
22	chr19:37154200-37157200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr19:37154800-37156600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:37154800-37156600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:37154800-37156800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:37155000-37156800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:37155000-37156800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:37155000-37156800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:37155200-37156600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:37155200-37156600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:37155200-37156600	Weak transcription	Fetal Kidney	kidney
32	chr19:37155200-37156600	Weak transcription	HUVEC	blood vessel
33	chr19:37155200-37156800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:37155400-37156600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:37155400-37156600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:37155400-37156600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:37155400-37156600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:37155400-37156600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr19:37155400-37156600	Weak transcription	NHDF-Ad	bronchial
40	chr19:37155400-37156800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:37155400-37156800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:37155400-37156800	Weak transcription	Colonic Mucosa	Colon
43	chr19:37155400-37156800	Weak transcription	Lung	lung
44	chr19:37155400-37156800	Weak transcription	Spleen	Spleen
45	chr19:37155600-37156600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:37155600-37156600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr19:37155600-37156600	Weak transcription	Fetal Intestine Small	intestine
48	chr19:37155600-37156600	Weak transcription	Fetal Stomach	stomach
49	chr19:37155600-37156600	Weak transcription	HepG2	liver
50	chr19:37155600-37156600	Weak transcription	Osteobl	bone

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