Variant report

Variant	rs7246216
Chromosome Location	chr19:37154619-37154620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1035777	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10402182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10407919	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084861	0.88[ASN][1000 genomes]
rs11666769	0.80[ASN][1000 genomes]
rs11667894	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11668432	0.83[ASN][1000 genomes]
rs11668689	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11669816	0.88[ASN][1000 genomes]
rs11670914	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11671382	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11672098	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12608459	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12608512	0.84[ASN][1000 genomes]
rs12610555	0.82[ASN][1000 genomes]
rs12610572	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1357879	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1464830	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1464831	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1525133	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17272386	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1985980	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052728	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2162296	0.84[ASN][1000 genomes]
rs2194976	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912399	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912408	0.81[ASN][1000 genomes]
rs2912412	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912440	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2912442	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912443	0.83[ASN][1000 genomes]
rs2912444	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912446	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945964	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967427	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2967429	0.84[ASN][1000 genomes]
rs2967436	0.89[ASN][1000 genomes]
rs2967437	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967438	0.81[ASN][1000 genomes]
rs2967439	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967440	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967442	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2967459	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2967461	0.81[ASN][1000 genomes]
rs2967464	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3096620	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3096637	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108593	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108605	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35299345	0.83[ASN][1000 genomes]
rs4806338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806339	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806348	0.86[EUR][1000 genomes]
rs4806349	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55940011	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55965207	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60213885	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60297398	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61457535	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61628442	0.80[ASN][1000 genomes]
rs6510551	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66717711	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66783290	0.88[ASN][1000 genomes]
rs67258954	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67995015	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68012004	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251805	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73609113	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7507224	0.88[ASN][1000 genomes]
rs8100381	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8108985	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826987	0.90[EUR][1000 genomes];0.83[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
rs7246216	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37098000-37156000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37106800-37156200	ZNF genes & repeats	Liver	Liver
3	chr19:37124800-37155600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:37126200-37156200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:37128800-37156200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:37134600-37157000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:37135200-37156200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:37135800-37156200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:37135800-37156400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:37142600-37156000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:37143600-37156800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:37144400-37156000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:37145200-37156600	Weak transcription	Fetal Heart	heart
14	chr19:37145600-37156600	Weak transcription	NHLF	lung
15	chr19:37145600-37156800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:37147400-37156600	Weak transcription	NHEK	skin
17	chr19:37147600-37156600	Weak transcription	HMEC	breast
18	chr19:37148000-37156800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:37148600-37155200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:37149200-37156800	Weak transcription	Stomach Mucosa	stomach
21	chr19:37149600-37156800	Weak transcription	Fetal Thymus	thymus
22	chr19:37149800-37155600	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr19:37150000-37156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:37150200-37156600	Weak transcription	NH-A	brain
25	chr19:37150200-37156800	Weak transcription	Gastric	stomach
26	chr19:37150400-37156800	Weak transcription	Right Ventricle	heart
27	chr19:37150600-37155600	Strong transcription	HSMM	muscle
28	chr19:37150800-37154800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
29	chr19:37150800-37154800	Weak transcription	HepG2	liver
30	chr19:37150800-37155400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr19:37150800-37156800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:37151000-37156600	Weak transcription	Brain Anterior Caudate	brain
33	chr19:37151600-37156000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:37151600-37156200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:37151800-37155600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:37151800-37155800	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr19:37151800-37156000	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr19:37151800-37156200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:37152000-37156000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:37152200-37155000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:37152200-37155200	Weak transcription	Aorta	Aorta
42	chr19:37152200-37155400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr19:37152200-37156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:37152200-37156600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr19:37152400-37156000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:37152600-37156000	Strong transcription	Fetal Muscle Leg	muscle
47	chr19:37152600-37156200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:37153000-37155600	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr19:37153200-37155600	ZNF genes & repeats	Fetal Stomach	stomach
50	chr19:37153200-37155600	Strong transcription	Left Ventricle	heart

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