Variant report

Variant	rs62107470
Chromosome Location	chr19:21496591-21496592
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	chr19:21496090..21497696-chr19:21505089..21507534,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11671832	0.82[ASN][1000 genomes]
rs12151067	0.80[ASN][1000 genomes]
rs12151068	0.80[ASN][1000 genomes]
rs12971724	0.80[ASN][1000 genomes]
rs12975981	0.85[ASN][1000 genomes]
rs12981869	0.85[ASN][1000 genomes]
rs12984238	0.80[ASN][1000 genomes]
rs1678822	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17618715	1.00[ASN][1000 genomes]
rs17618778	0.80[ASN][1000 genomes]
rs1762580	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17680671	0.89[ASN][1000 genomes]
rs1781863	0.82[EUR][1000 genomes]
rs1827225	0.86[ASN][1000 genomes]
rs28839521	0.80[ASN][1000 genomes]
rs2914636	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914637	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928210	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34560125	0.80[ASN][1000 genomes]
rs34875588	1.00[ASN][1000 genomes]
rs35148123	0.80[ASN][1000 genomes]
rs35578515	0.85[ASN][1000 genomes]
rs35860067	1.00[ASN][1000 genomes]
rs483383	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488125	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs501647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504280	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs509540	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514390	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs531283	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs549882	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552039	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565406	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs566230	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57055133	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58121117	1.00[ASN][1000 genomes]
rs59617671	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600428	0.83[EUR][1000 genomes]
rs608002	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617186	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62107538	1.00[ASN][1000 genomes]
rs62109224	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110379	1.00[ASN][1000 genomes]
rs635730	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs670813	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67723811	0.80[ASN][1000 genomes]
rs685844	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245848	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246684	1.00[ASN][1000 genomes]
rs7248700	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254762	0.89[ASN][1000 genomes]
rs73025767	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099863	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103411	0.85[ASN][1000 genomes]
rs8103417	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105404	1.00[ASN][1000 genomes]
rs8110470	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8111189	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113558	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
9	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs62107470	ZNF738	cis	Esophagus Muscularis	GTEx
rs62107470	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs62107470	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs62107470	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs62107470	ZNF738	cis	Adipose Subcutaneous	GTEx
rs62107470	ZNF738	cis	Nerve Tibial	GTEx
rs62107470	CTD-2561J22.5	cis	Thyroid	GTEx
rs62107470	ZNF738	cis	Thyroid	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21473800-21510400	Weak transcription	Fetal Heart	heart
2	chr19:21474800-21509800	Weak transcription	Fetal Brain Male	brain
3	chr19:21475200-21511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:21476800-21497600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:21478000-21497400	Weak transcription	Colon Smooth Muscle	Colon
6	chr19:21478400-21500600	Weak transcription	Psoas Muscle	Psoas
7	chr19:21478600-21499200	Weak transcription	HMEC	breast
8	chr19:21481000-21500600	Weak transcription	NHLF	lung
9	chr19:21481600-21500000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:21481600-21500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:21481600-21505600	Weak transcription	K562	blood
12	chr19:21484400-21511000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:21485400-21508600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:21485400-21511200	Weak transcription	Gastric	stomach
15	chr19:21485600-21497600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:21485600-21504200	Weak transcription	Pancreas	Pancrea
17	chr19:21486400-21500400	Weak transcription	Spleen	Spleen
18	chr19:21487400-21496800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr19:21487600-21508600	Weak transcription	Fetal Kidney	kidney
20	chr19:21487600-21511200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr19:21487800-21498200	Weak transcription	HUVEC	blood vessel
22	chr19:21488000-21500600	Weak transcription	Left Ventricle	heart
23	chr19:21488000-21505600	Weak transcription	Right Ventricle	heart
24	chr19:21488200-21511200	Weak transcription	Aorta	Aorta
25	chr19:21488400-21500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:21489000-21496800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:21489000-21510800	Weak transcription	NH-A	brain
28	chr19:21489600-21500600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:21489600-21506000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:21489600-21509000	Weak transcription	Placenta	Placenta
31	chr19:21489800-21500800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:21489800-21504000	Weak transcription	Osteobl	bone
33	chr19:21490200-21508800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:21490200-21509200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:21492200-21500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:21492400-21496800	Weak transcription	Colonic Mucosa	Colon
37	chr19:21492400-21497400	Weak transcription	Primary T cells from cord blood	blood
38	chr19:21492400-21497600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:21492400-21497600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:21492400-21500000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:21492400-21500000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:21492400-21500600	Weak transcription	Adipose Nuclei	Adipose
43	chr19:21492400-21500800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:21492400-21503200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:21492400-21506200	Weak transcription	Fetal Lung	lung
46	chr19:21492400-21508600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:21492400-21508800	Weak transcription	Fetal Intestine Large	intestine
48	chr19:21492400-21509000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:21492600-21497000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:21492600-21497600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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