Variant report

Variant	rs3745770
Chromosome Location	chr19:37488565-37488566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10403679	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10420554	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10424584	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10426135	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1047333	0.92[CEU][hapmap]
rs11084871	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11667146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11670216	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11673192	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11673344	0.88[CEU][hapmap]
rs12151313	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13345491	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1423047	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1610560	0.84[ASN][1000 genomes]
rs1644638	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1644640	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1644641	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1644642	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1644643	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1644645	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1644711	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1657510	0.86[CHB][hapmap]
rs1667331	0.90[EUR][1000 genomes]
rs1667340	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1667343	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971873	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972020	0.86[CHB][hapmap]
rs16972024	0.86[CHB][hapmap]
rs16972028	0.86[CHB][hapmap]
rs16972030	0.86[CHB][hapmap]
rs17707446	0.84[CEU][hapmap]
rs1879497	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2011475	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2547055	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2551047	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2562587	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35011739	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3745768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472226	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs474017	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs475026	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs484001	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs496872	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs504549	0.80[EUR][1000 genomes]
rs505717	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs508361	0.84[EUR][1000 genomes]
rs510757	0.81[CEU][hapmap]
rs513406	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs517110	1.00[JPT][hapmap]
rs519551	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs519606	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs524802	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs528504	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs529468	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs540451	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs544543	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs547483	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs550017	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs551717	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55792845	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55921822	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56161518	0.83[EUR][1000 genomes]
rs56208574	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56248021	0.82[EUR][1000 genomes]
rs565721	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs567796	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs568654	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs569371	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs573294	1.00[JPT][hapmap]
rs703530	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs703535	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs703537	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7247589	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7248693	0.82[EUR][1000 genomes]
rs7252230	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7254616	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7256001	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7256213	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7256746	0.88[CEU][hapmap]
rs7256876	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7257126	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257135	0.84[CEU][hapmap]
rs7259513	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7260386	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs734381	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8104919	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8106386	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107192	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8108727	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8110696	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826262	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs826289	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs826290	0.82[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs826294	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs826296	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs826303	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs826304	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs826307	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs826314	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs826322	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs826323	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9676450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv911653	chr19:37482151-37556673	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3745770	AC012309.5	cis	Heart Left Ventricle	GTEx
rs3745770	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs3745770	AC012309.5	cis	Thyroid	GTEx
rs3745770	ZNF585B	cis	Artery Tibial	GTEx
rs3745770	AC012309.5	cis	Esophagus Muscularis	GTEx
rs3745770	AC012309.5	cis	Artery Tibial	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37476800-37489400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37479200-37489000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:37479800-37489000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
4	chr19:37480400-37488800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr19:37480400-37489000	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr19:37480400-37489000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
7	chr19:37480400-37489000	ZNF genes & repeats	Liver	Liver
8	chr19:37481400-37489000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr19:37481600-37488600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:37481800-37488800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr19:37481800-37489400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:37482600-37488800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:37482600-37489000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:37484400-37490600	Weak transcription	Stomach Mucosa	stomach
15	chr19:37485400-37488600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:37485400-37489000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:37485600-37488600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:37485600-37488600	ZNF genes & repeats	Aorta	Aorta
19	chr19:37485600-37488600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr19:37485600-37488600	Strong transcription	Left Ventricle	heart
21	chr19:37485600-37489400	ZNF genes & repeats	Ovary	ovary
22	chr19:37485800-37488600	Strong transcription	Brain Cingulate Gyrus	brain
23	chr19:37485800-37488600	ZNF genes & repeats	Thymus	Thymus
24	chr19:37485800-37489200	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:37486000-37488600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
26	chr19:37486000-37488600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
27	chr19:37486000-37488800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr19:37486000-37488800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:37486200-37488600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr19:37486200-37488800	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr19:37486200-37488800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr19:37486200-37489000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:37486200-37489000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:37486200-37489000	Strong transcription	Fetal Stomach	stomach
35	chr19:37486400-37488600	Strong transcription	Fetal Intestine Large	intestine
36	chr19:37486400-37489000	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr19:37486400-37489200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
38	chr19:37486800-37488600	ZNF genes & repeats	Esophagus	oesophagus
39	chr19:37486800-37488800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr19:37486800-37489000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:37486800-37489200	Strong transcription	Fetal Brain Female	brain
42	chr19:37487000-37488600	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr19:37487000-37488600	ZNF genes & repeats	Osteobl	bone
44	chr19:37487000-37489000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr19:37487000-37489000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr19:37487200-37488600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:37487200-37488800	Strong transcription	Fetal Brain Male	brain
48	chr19:37487200-37489000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:37487200-37489000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:37487200-37489000	Strong transcription	Colon Smooth Muscle	Colon

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