Variant report

Variant	rs2972536
Chromosome Location	chr19:36734557-36734558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36729000..36731636-chr19:36732341..36735804,4	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10416729	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11672641	0.81[ASN][1000 genomes]
rs11673662	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12608941	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1898675	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2432040	0.86[ASN][1000 genomes]
rs2432044	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2432046	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2432048	0.90[ASN][1000 genomes]
rs2432050	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432053	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2438515	0.91[ASN][1000 genomes]
rs2438516	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2910681	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2918322	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918323	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2918324	0.94[ASN][1000 genomes]
rs2918325	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2918328	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2918331	0.80[AMR][1000 genomes]
rs2918334	0.80[ASN][1000 genomes]
rs2918376	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2918377	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2918381	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2918382	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2918383	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2918384	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972320	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972528	0.88[ASN][1000 genomes]
rs2972530	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972532	0.94[ASN][1000 genomes]
rs2972533	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972534	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972535	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972540	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972543	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2972548	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2972551	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2972554	0.81[ASN][1000 genomes]
rs4293497	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4315447	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4806291	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2972536	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36721000-36735800	Weak transcription	Right Atrium	heart
2	chr19:36724400-36735800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:36728200-36735800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:36728200-36735800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36728200-36736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:36728400-36735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:36728400-36735800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:36728400-36735800	Weak transcription	Brain Anterior Caudate	brain
9	chr19:36728400-36735800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:36728400-36735800	Weak transcription	Brain Substantia Nigra	brain
11	chr19:36728400-36736200	Weak transcription	Gastric	stomach
12	chr19:36728600-36735800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:36728600-36735800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:36728600-36735800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:36728600-36735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:36728600-36736000	Weak transcription	Left Ventricle	heart
17	chr19:36728600-36736000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:36728800-36735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:36728800-36735800	Weak transcription	NHLF	lung
20	chr19:36729000-36734800	Weak transcription	NHEK	skin
21	chr19:36729000-36735800	Weak transcription	Fetal Heart	heart
22	chr19:36729200-36735800	Weak transcription	Fetal Brain Male	brain
23	chr19:36729200-36735800	Weak transcription	Fetal Kidney	kidney
24	chr19:36729400-36735800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:36729400-36735800	Weak transcription	HMEC	breast
26	chr19:36729400-36735800	Weak transcription	Osteobl	bone
27	chr19:36729400-36736000	Weak transcription	Brain Hippocampus Middle	brain
28	chr19:36729600-36735800	Weak transcription	Fetal Lung	lung
29	chr19:36729800-36736000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:36730000-36735800	Weak transcription	Brain Germinal Matrix	brain
31	chr19:36730000-36735800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:36730000-36735800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:36730000-36736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:36730200-36735800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:36730200-36735800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:36730200-36736000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:36730400-36735800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:36730400-36735800	Weak transcription	HUVEC	blood vessel
39	chr19:36730400-36736000	Weak transcription	Right Ventricle	heart
40	chr19:36730400-36748400	Weak transcription	HSMMtube	muscle
41	chr19:36730600-36735600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:36730600-36735800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:36730600-36735800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:36730600-36735800	Weak transcription	Brain Angular Gyrus	brain
45	chr19:36730600-36736000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:36730600-36736000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:36730600-36736000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:36730600-36736000	Weak transcription	Ovary	ovary
49	chr19:36730600-36736000	Weak transcription	Psoas Muscle	Psoas
50	chr19:36730800-36735800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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