Variant report

Variant	rs2368484
Chromosome Location	chr19:38825447-38825448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:38825440-38827183	A549	lung:	n/a	chr19:38826291-38826309 chr19:38826985-38826995
2	SMC3	chr19:38825418-38828127	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr19:38825427-38828037	IMR90	lung:	n/a	chr19:38826368-38826383

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38804679..38808674-chr19:38824887..38827856,7	K562	blood:
2	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
3	chr19:38824766..38830853-chr19:38863348..38868089,16	MCF-7	breast:
4	chr19:38825004..38828693-chr19:38863595..38867873,9	K562	blood:
5	chr19:38823410..38828693-chr19:38863569..38867873,9	K562	blood:
6	chr19:38791989..38796796-chr19:38825093..38829391,7	MCF-7	breast:
7	chr19:38753791..38756428-chr19:38824915..38829046,7	MCF-7	breast:
8	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
9	chr19:38824024..38830842-chr19:38863522..38868048,10	MCF-7	breast:
10	chr19:38733321..38734847-chr19:38824832..38827411,2	MCF-7	breast:
11	chr19:38741131..38744022-chr19:38825237..38827049,2	K562	blood:
12	chr19:38819188..38821432-chr19:38824241..38826346,2	K562	blood:
13	chr19:38806332..38809400-chr19:38825014..38828541,5	K562	blood:
14	chr19:38712277..38715341-chr19:38824721..38827828,3	K562	blood:
15	chr19:38777648..38780643-chr19:38825334..38827865,2	K562	blood:
16	chr19:38745286..38748830-chr19:38824490..38828580,5	K562	blood:
17	chr19:38733182..38735640-chr19:38825420..38827758,3	K562	blood:
18	chr19:38825387..38828116-chr19:38877119..38879831,3	MCF-7	breast:
19	chr19:38810007..38812286-chr19:38825422..38828123,4	MCF-7	breast:

No data

Variant related genes	Relation type
CATSPERG	TF binding region
ENSG00000167644	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000267748	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000011332	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11666449	0.91[EUR][1000 genomes]
rs11668651	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11669131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669230	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11671779	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11672219	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11672531	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11672793	0.89[AMR][1000 genomes]
rs11673012	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11673203	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11673222	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2286473	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2302182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302183	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304177	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2887262	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34989303	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35308902	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3745951	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3745952	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4386247	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs45437199	0.88[ASN][1000 genomes]
rs4801723	0.85[EUR][1000 genomes]
rs4802326	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802327	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4804016	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4804046	0.83[AMR][1000 genomes]
rs57681346	0.93[EUR][1000 genomes]
rs60082376	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60487067	0.89[EUR][1000 genomes]
rs61091932	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7256575	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73041302	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8101488	0.93[AMR][1000 genomes]
rs8106900	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs931749	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs931750	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2368484	C19orf33	cis	Heart Left Ventricle	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38811200-38826200	Weak transcription	Brain Anterior Caudate	brain
2	chr19:38811200-38826600	Weak transcription	Brain Substantia Nigra	brain
3	chr19:38811400-38825600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:38812000-38826000	Weak transcription	Fetal Thymus	thymus
5	chr19:38812000-38826600	Weak transcription	HUVEC	blood vessel
6	chr19:38812200-38826400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:38812200-38826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:38812400-38826400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:38812400-38826400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:38812400-38826400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:38812600-38826200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:38813000-38826000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:38813000-38826400	Weak transcription	Stomach Mucosa	stomach
14	chr19:38813200-38826800	Weak transcription	Fetal Heart	heart
15	chr19:38813400-38826000	Weak transcription	Fetal Intestine Large	intestine
16	chr19:38814000-38826400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:38814200-38826400	Weak transcription	Right Atrium	heart
18	chr19:38814600-38826400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:38815000-38826400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:38818000-38826600	Weak transcription	Small Intestine	intestine
21	chr19:38818200-38826600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:38818400-38826000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:38818400-38826200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:38818400-38826600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:38818600-38826200	Weak transcription	Thymus	Thymus
26	chr19:38818600-38826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:38818600-38826600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:38818800-38825800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:38818800-38826000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:38818800-38826000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:38818800-38826400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:38818800-38826400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:38818800-38826400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:38818800-38826400	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:38818800-38826600	Weak transcription	Fetal Lung	lung
36	chr19:38819000-38825800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:38819000-38826000	Weak transcription	Fetal Muscle Leg	muscle
38	chr19:38819000-38826400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:38819000-38826400	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:38819000-38826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:38819000-38826600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:38819000-38826600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:38819200-38826000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:38819200-38826000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:38819200-38826000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:38819200-38826000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:38819200-38826000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:38819200-38826000	Weak transcription	HSMM	muscle
49	chr19:38819200-38826200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:38819200-38826400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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