Variant report

Variant	rs510757
Chromosome Location	chr19:37422802-37422803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10403679	0.80[EUR][1000 genomes]
rs10420554	0.81[EUR][1000 genomes]
rs10424584	0.81[EUR][1000 genomes]
rs11667146	0.85[GIH][hapmap];0.88[TSI][hapmap]
rs13345491	0.80[EUR][1000 genomes]
rs1423047	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1644638	0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1644640	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1644642	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1644643	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1644645	0.84[EUR][1000 genomes]
rs1644710	0.94[EUR][1000 genomes]
rs1644711	1.00[CEU][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1667331	0.81[EUR][1000 genomes]
rs1667340	0.80[EUR][1000 genomes]
rs1667343	0.81[EUR][1000 genomes]
rs1667384	0.94[EUR][1000 genomes]
rs1726719	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1726724	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2547055	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2551047	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35011739	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3745768	0.81[CEU][hapmap]
rs3745770	0.81[CEU][hapmap]
rs472226	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs474017	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs475026	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs476194	0.89[AFR][1000 genomes]
rs484001	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs485034	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs491326	0.89[AFR][1000 genomes]
rs494804	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs496872	0.85[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs505717	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs508361	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs510214	0.88[YRI][hapmap]
rs513406	0.85[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs517110	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519551	0.84[EUR][1000 genomes]
rs519606	0.96[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs524802	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs528504	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs529468	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs540451	1.00[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs544543	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs547483	0.88[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap];0.84[LWK][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs550017	0.84[EUR][1000 genomes]
rs551717	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs563786	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs565721	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs567796	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs568654	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs569371	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs573294	1.00[ASW][hapmap];0.89[AFR][1000 genomes]
rs579452	0.89[AFR][1000 genomes]
rs580846	0.81[CEU][hapmap]
rs7255595	0.88[CEU][hapmap]
rs73039116	0.81[EUR][1000 genomes]
rs73039188	0.85[EUR][1000 genomes]
rs734381	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs826262	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826289	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs826290	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs826294	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs826296	0.84[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs826303	0.85[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs826304	0.88[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs826307	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs826314	0.84[AFR][1000 genomes];0.85[EUR][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	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	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs510757	AC012309.5	cis	Artery Tibial	GTEx
rs510757	ZNF585B	cis	Artery Tibial	GTEx
rs510757	AC012309.5	cis	Heart Left Ventricle	GTEx
rs510757	AC012309.5	cis	Esophagus Muscularis	GTEx
rs510757	AC012309.5	cis	Esophagus Mucosa	GTEx
rs510757	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs510757	HKR1	cis	multi-tissue	Pritchard
rs510757	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37408200-37436400	Weak transcription	Fetal Thymus	thymus
2	chr19:37408200-37440600	Weak transcription	Stomach Mucosa	stomach
3	chr19:37408400-37440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:37408600-37439600	Weak transcription	Fetal Heart	heart
5	chr19:37409000-37444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37409000-37447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:37409600-37423600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:37410600-37427600	Weak transcription	NH-A	brain
9	chr19:37413600-37427600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:37413800-37427400	Weak transcription	Right Ventricle	heart
11	chr19:37413800-37427600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:37413800-37427800	Weak transcription	HSMMtube	muscle
13	chr19:37413800-37428000	Weak transcription	HUVEC	blood vessel
14	chr19:37415800-37444600	ZNF genes & repeats	Liver	Liver
15	chr19:37416200-37427800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:37418600-37427400	Weak transcription	HSMM	muscle
17	chr19:37419200-37426200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:37419400-37447400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:37420200-37423600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:37420200-37423600	ZNF genes & repeats	Fetal Stomach	stomach
21	chr19:37420600-37423600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:37420600-37423600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:37420600-37423600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:37420600-37423800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:37420600-37443000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:37420600-37447400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:37420600-37447600	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr19:37420800-37423600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:37421000-37423600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:37421200-37423600	Strong transcription	Fetal Muscle Leg	muscle
31	chr19:37421400-37423000	Strong transcription	Fetal Brain Male	brain
32	chr19:37421400-37423000	Strong transcription	Osteobl	bone
33	chr19:37421400-37423400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:37421400-37423600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:37421400-37424200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:37421600-37423000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:37421600-37423000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:37421600-37423200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:37421600-37423200	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr19:37421600-37423600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:37421600-37423800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:37421600-37423800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:37421600-37424400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:37421600-37424400	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:37421600-37424400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr19:37421600-37426200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr19:37421600-37427600	Weak transcription	Fetal Kidney	kidney
48	chr19:37421800-37423600	ZNF genes & repeats	Aorta	Aorta
49	chr19:37421800-37423600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:37421800-37423600	ZNF genes & repeats	Left Ventricle	heart

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