Variant report

Variant	rs2438515
Chromosome Location	chr19:36707950-36707951
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36705012-36708000	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:36707543-36708110	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr19:36707851-36707954	K562	blood:	n/a	n/a
4	POLR2A	chr19:36707508-36708093	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:36707394-36708239	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr19:36707206-36708042	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:36707652-36707988	K562	blood:	n/a	n/a
8	POLR2A	chr19:36707584-36708128	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:36707639-36707991	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr19:36707111-36708050	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:36707735-36708005	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:36707714-36707986	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:36707567-36708099	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36704317..36708058-chr19:36719298..36721271,3	MCF-7	breast:
2	chr19:36706883..36709067-chr19:36978381..36980309,2	K562	blood:
3	chr19:36706964..36709175-chr20:49993312..49995838,2	MCF-7	breast:
4	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:

No data

Variant related genes	Relation type
ZNF565	TF binding region
ENSG00000126247	Chromatin interaction
ENSG00000263645	Chromatin interaction
ENSG00000167635	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10416729	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11673662	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460237	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12608941	0.84[ASN][1000 genomes]
rs1898675	0.83[ASN][1000 genomes]
rs2432040	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2432044	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2432046	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2432048	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2432050	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2432053	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2438516	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2910681	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2918322	0.86[ASN][1000 genomes]
rs2918323	0.84[ASN][1000 genomes]
rs2918324	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2918325	0.86[ASN][1000 genomes]
rs2918376	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2918377	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2918381	0.91[ASN][1000 genomes]
rs2918382	0.80[ASN][1000 genomes]
rs2918383	0.83[ASN][1000 genomes]
rs2918384	0.86[ASN][1000 genomes]
rs2972320	0.86[ASN][1000 genomes]
rs2972528	0.90[EUR][1000 genomes]
rs2972530	0.82[ASN][1000 genomes]
rs2972532	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972533	0.86[ASN][1000 genomes]
rs2972534	0.85[ASN][1000 genomes]
rs2972535	0.91[ASN][1000 genomes]
rs2972536	0.91[ASN][1000 genomes]
rs2972540	0.93[ASN][1000 genomes]
rs2972543	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34912665	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4293497	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4315447	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57614488	0.86[EUR][1000 genomes]
rs60277419	0.82[EUR][1000 genomes]
rs6510528	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8107260	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8107616	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2438515	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36704600-36708000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:36704800-36708400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:36705200-36708000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:36705200-36708200	Active TSS	K562	blood
5	chr19:36706800-36708400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:36706800-36708400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:36706800-36708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:36706800-36709800	Weak transcription	Lung	lung
9	chr19:36706800-36710800	Weak transcription	Esophagus	oesophagus
10	chr19:36706800-36716400	Weak transcription	Aorta	Aorta
11	chr19:36707000-36708000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:36707000-36708000	Enhancers	Primary B cells from peripheral blood	blood
13	chr19:36707000-36708000	Enhancers	Brain Angular Gyrus	brain
14	chr19:36707000-36708000	Enhancers	Brain Substantia Nigra	brain
15	chr19:36707000-36708000	Enhancers	Fetal Muscle Trunk	muscle
16	chr19:36707000-36708200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr19:36707000-36708400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:36707000-36708400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:36707000-36708400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr19:36707000-36708400	Enhancers	Adipose Nuclei	Adipose
21	chr19:36707000-36708400	Enhancers	Brain Hippocampus Middle	brain
22	chr19:36707000-36708400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr19:36707000-36708600	Enhancers	Fetal Brain Male	brain
24	chr19:36707000-36708600	Weak transcription	Right Atrium	heart
25	chr19:36707000-36708800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr19:36707000-36709000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr19:36707000-36709200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr19:36707000-36709800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr19:36707000-36709800	Weak transcription	Placenta	Placenta
30	chr19:36707000-36710000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:36707000-36710000	Weak transcription	Fetal Intestine Large	intestine
32	chr19:36707000-36710200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr19:36707000-36711000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:36707000-36711800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:36707000-36711800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:36707000-36711800	Weak transcription	Colonic Mucosa	Colon
37	chr19:36707000-36712800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:36707000-36712800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:36707000-36716200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:36707000-36726800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr19:36707200-36708200	Enhancers	Fetal Lung	lung
42	chr19:36707200-36708200	Enhancers	Fetal Muscle Leg	muscle
43	chr19:36707200-36709000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr19:36707200-36709200	Enhancers	Primary T cells from cord blood	blood
45	chr19:36707200-36710000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:36707200-36710000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:36707200-36710000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr19:36707200-36710400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr19:36707200-36712600	Weak transcription	NHDF-Ad	bronchial
50	chr19:36707400-36708000	Enhancers	Gastric	stomach

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