Variant report

Variant	rs11671382
Chromosome Location	chr19:37188061-37188062
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37177479..37179170-chr19:37187073..37188900,2	MCF-7	breast:
2	chr19:37178528..37181620-chr19:37184427..37188205,4	MCF-7	breast:
3	chr19:37176901..37179127-chr19:37187369..37189594,2	K562	blood:

Variant related genes	Relation type
ENSG00000225975	Chromatin interaction
ENSG00000189042	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1035777	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10402182	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10403456	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10407919	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11084861	0.89[ASN][1000 genomes]
rs11666769	0.92[ASN][1000 genomes]
rs11667894	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11668432	0.95[ASN][1000 genomes]
rs11668689	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11669816	0.90[ASN][1000 genomes]
rs11670914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672098	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12608459	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12608512	0.88[ASN][1000 genomes]
rs12610555	0.92[ASN][1000 genomes]
rs12610572	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1357879	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1464830	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1464831	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1525133	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673082	0.91[ASN][1000 genomes]
rs17272386	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985980	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2052728	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2162296	0.86[ASN][1000 genomes]
rs2194976	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2912399	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2912408	0.82[ASN][1000 genomes]
rs2912412	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2912440	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912442	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2912443	0.85[ASN][1000 genomes]
rs2912444	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2912446	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2945964	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967427	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967429	0.86[ASN][1000 genomes]
rs2967437	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967438	0.82[ASN][1000 genomes]
rs2967439	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967440	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967442	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967459	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967461	0.82[ASN][1000 genomes]
rs2967463	0.81[ASN][1000 genomes]
rs2967464	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3096620	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3096637	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3108593	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108605	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35299345	0.94[ASN][1000 genomes]
rs4806338	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4806339	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4806348	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4806349	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55940011	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55965207	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60213885	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60297398	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61457535	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61628442	0.92[ASN][1000 genomes]
rs6510551	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66717711	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66783290	0.90[ASN][1000 genomes]
rs67258954	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67995015	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68012004	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7246216	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7251805	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73609113	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7507224	0.89[ASN][1000 genomes]
rs8100381	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8108985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826987	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11671382	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37179400-37188200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:37179400-37188800	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr19:37179400-37194800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:37179400-37199200	Weak transcription	Fetal Heart	heart
5	chr19:37179600-37194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:37179800-37188800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:37179800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:37179800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:37179800-37188800	ZNF genes & repeats	Liver	Liver
10	chr19:37179800-37188800	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:37179800-37189000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:37179800-37189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:37179800-37189200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:37180000-37189200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:37180200-37188400	Strong transcription	Placenta	Placenta
16	chr19:37180200-37188800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:37180200-37189000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:37180400-37188200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:37180400-37188800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:37180400-37188800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:37180600-37188800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:37181600-37188200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
23	chr19:37181600-37188800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr19:37181600-37188800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr19:37181800-37188600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr19:37181800-37188800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:37183600-37188800	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:37183600-37203200	Weak transcription	K562	blood
29	chr19:37183800-37189000	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr19:37184000-37194600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:37184200-37188800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:37184400-37188400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:37184400-37194600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:37184400-37199000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:37185000-37188800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:37185000-37189200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr19:37185200-37188800	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr19:37185200-37188800	ZNF genes & repeats	A549	lung
39	chr19:37185600-37188400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:37185800-37188800	ZNF genes & repeats	Fetal Lung	lung
41	chr19:37186000-37188800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr19:37186000-37190000	Weak transcription	Hela-S3	cervix
43	chr19:37186000-37194600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:37186200-37188600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:37186200-37189400	Weak transcription	Fetal Thymus	thymus
46	chr19:37186400-37188800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:37186400-37188800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:37186400-37189000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:37186400-37194400	Weak transcription	Thymus	Thymus
50	chr19:37186600-37188600	ZNF genes & repeats	Dnd41	blood

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