Variant report

Variant	rs377503
Chromosome Location	chr19:44502184-44502185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr19:44502068-44502329	K562	blood:	n/a	n/a
2	NFYB	chr19:44502158-44502358	GM12878	blood:	n/a	n/a
3	FOS	chr19:44502168-44502373	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267
4	JUND	chr19:44502178-44502337	K562	blood:	n/a	n/a
5	FOS	chr19:44502131-44502401	HUVEC	blood vessel:	n/a	chr19:44502256-44502267
6	POLR2A	chr19:44502120-44502475	PFSK-1	brain:	n/a	n/a
7	FOS	chr19:44502145-44502412	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267
8	FOS	chr19:44502151-44502351	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44501460..44503364-chr19:44505726..44508056,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF45-2	chr19:44501048-44503384	ENSG00000266921.1
2	lnc-ZNF45-2	chr19:44501048-44502536	NONHSAT066650

Variant related genes	Relation type
ZNF230	TF binding region
ENSG00000266921	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10418363	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11083732	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11083733	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11881151	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12232810	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1996408	0.84[ASN][1000 genomes]
rs2191566	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2270196	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2356549	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35292176	0.81[EUR][1000 genomes]
rs367209	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs367499	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs369106	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs384544	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs390369	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803667	0.84[ASN][1000 genomes]
rs55703004	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56101767	0.91[EUR][1000 genomes]
rs56171514	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59963278	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62119173	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6509133	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7245749	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7252394	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7253205	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7255145	0.82[ASN][1000 genomes]
rs7255315	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7256908	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7258517	0.83[ASN][1000 genomes]
rs8105571	0.86[EUR][1000 genomes];0.88[ASN][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv1970688	chr19:44501975-44502420	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs377503	ZNF223	cis	Thyroid	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
3	chr19:44489600-44506200	Weak transcription	HepG2	liver
4	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
6	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr19:44491800-44502200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:44492400-44502200	Strong transcription	Fetal Intestine Large	intestine
9	chr19:44492400-44502200	Strong transcription	HSMM	muscle
10	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:44492600-44502200	Strong transcription	Dnd41	blood
14	chr19:44492600-44502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:44492600-44502400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:44492600-44502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:44492800-44502200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:44493200-44502200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:44493400-44502400	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:44493600-44502200	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr19:44496600-44503200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:44498400-44502400	Strong transcription	Psoas Muscle	Psoas
26	chr19:44499000-44502400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
28	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
29	chr19:44499200-44506200	Weak transcription	NHLF	lung
30	chr19:44500000-44502400	Strong transcription	Fetal Brain Female	brain
31	chr19:44500200-44502200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:44500200-44502200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr19:44500200-44502200	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr19:44500200-44502400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:44500200-44502400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr19:44500200-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:44500200-44502600	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr19:44501000-44506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:44501000-44506200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:44501000-44506200	Weak transcription	Brain Anterior Caudate	brain
41	chr19:44501000-44506400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:44501000-44506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:44501200-44506000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:44501200-44506000	Weak transcription	Spleen	Spleen
45	chr19:44501200-44506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr19:44501200-44506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:44501200-44506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:44501200-44506200	Weak transcription	Brain Angular Gyrus	brain
49	chr19:44501200-44506200	Weak transcription	HUVEC	blood vessel
50	chr19:44501200-44506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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