Variant report

Variant	rs7255192
Chromosome Location	chr19:44560181-44560182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:44560126-44560316	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:44560100-44560250	HEK293	kidney:	n/a	n/a
3	CTCF	chr19:44560120-44560270	HEK293	kidney:	n/a	n/a
4	CTCF	chr19:44560145-44560287	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr19:44560078-44560377	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr19:44560113-44560327	HepG2	liver:	n/a	n/a
7	CTCF	chr19:44560100-44560250	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:44560120-44560270	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr19:44560135-44560304	K562	blood:	n/a	n/a
10	CTCF	chr19:44560163-44560290	GM19238	blood:	n/a	n/a
11	RAD21	chr19:44559975-44560338	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:44560073-44560387	K562	blood:	n/a	n/a
13	ZNF263	chr19:44559976-44560408	HEK293-T-REx	kidney:	n/a	n/a
14	CTCF	chr19:44560120-44560270	WERI-Rb-1	eye:	n/a	n/a
15	RAD21	chr19:44560117-44560320	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr19:44560100-44560250	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr19:44560032-44560401	HCT-116	colon:	n/a	n/a
18	CTCF	chr19:44560158-44560266	GM12892	blood:	n/a	n/a
19	CTCF	chr19:44560151-44560293	NHEK	skin:	n/a	n/a
20	CTCF	chr19:44560149-44560267	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:44560092-44560291	K562	blood:	n/a	n/a
22	CTCF	chr19:44560077-44560360	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr19:44560120-44560270	MCF-7	breast:	n/a	n/a
24	CTCF	chr19:44560179-44560258	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:44560180-44560330	A549	lung:	n/a	n/a
26	CTCF	chr19:44560178-44560261	GM12891	blood:	n/a	n/a
27	CTCF	chr19:44560120-44560270	GM12871	blood:	n/a	n/a
28	RAD21	chr19:44560141-44560298	K562	blood:	n/a	n/a
29	CTCF	chr19:44560140-44560290	GM12864	blood:	n/a	n/a
30	CTCF	chr19:44560100-44560250	HepG2	liver:	n/a	n/a
31	CTCF	chr19:44560120-44560270	A549	lung:	n/a	n/a
32	CTCF	chr19:44560010-44560326	K562	blood:	n/a	n/a
33	CTCF	chr19:44560151-44560293	HepG2	liver:	n/a	n/a
34	CTCF	chr19:44560160-44560310	K562	blood:	n/a	n/a
35	CTCF	chr19:44560140-44560290	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr19:44560120-44560270	GM12873	blood:	n/a	n/a

No data

Variant related genes	Relation type
ZNF223	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11083734	0.85[ASN][1000 genomes]
rs11083735	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11083736	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666432	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12610472	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474061	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1996409	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2138823	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138824	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2176431	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35120085	0.84[ASN][1000 genomes]
rs382197	0.86[EUR][1000 genomes]
rs3826941	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4239528	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs427608	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4299256	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4371266	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4375771	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4444434	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs451388	0.90[EUR][1000 genomes]
rs454904	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4550576	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4555257	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4580302	0.84[ASN][1000 genomes]
rs4803668	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803672	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803674	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55798868	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56003307	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56230322	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56250154	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57895932	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62115491	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62119177	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509137	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509139	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7251015	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7252213	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7257809	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8105003	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8109313	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8109615	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8110348	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9646633	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7255192	ZNF223	cis	Thyroid	GTEx
rs7255192	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs7255192	ZNF223	cis	Nerve Tibial	GTEx
rs7255192	ZNF223	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44556600-44564600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:44557000-44560200	Weak transcription	Fetal Thymus	thymus
3	chr19:44557000-44560200	Weak transcription	Thymus	Thymus
4	chr19:44557000-44561800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:44557000-44561800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:44557000-44561800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:44557000-44561800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:44557000-44561800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:44557000-44561800	Weak transcription	Aorta	Aorta
10	chr19:44557000-44561800	Weak transcription	Placenta	Placenta
11	chr19:44557000-44565000	Weak transcription	Psoas Muscle	Psoas
12	chr19:44557000-44566800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44557000-44567400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:44557000-44567400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:44557000-44567600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:44557000-44568800	Weak transcription	HMEC	breast
17	chr19:44557000-44570200	Weak transcription	HUVEC	blood vessel
18	chr19:44557000-44570200	Weak transcription	NHDF-Ad	bronchial
19	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr19:44557200-44561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:44557200-44561800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:44557200-44562600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:44557200-44565600	Weak transcription	NHLF	lung
24	chr19:44557400-44560200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:44557400-44561800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:44557400-44561800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:44557400-44561800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:44557400-44561800	Weak transcription	Dnd41	blood
29	chr19:44557400-44561800	Weak transcription	HepG2	liver
30	chr19:44557400-44564400	Weak transcription	Fetal Heart	heart
31	chr19:44557400-44565000	Weak transcription	Small Intestine	intestine
32	chr19:44557400-44565000	Weak transcription	NH-A	brain
33	chr19:44557400-44570000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:44557400-44570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:44557600-44560200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:44557600-44564800	Weak transcription	Fetal Brain Male	brain
37	chr19:44557800-44561800	Weak transcription	Right Ventricle	heart
38	chr19:44558200-44571800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
41	chr19:44558400-44560400	Strong transcription	Brain Germinal Matrix	brain
42	chr19:44558600-44560200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:44558600-44560400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:44558600-44560400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:44558600-44560400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
46	chr19:44558600-44560400	ZNF genes & repeats	A549	lung
47	chr19:44558600-44560400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:44558800-44560200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:44558800-44560400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:44558800-44560400	ZNF genes & repeats	Primary B cells from cord blood	blood

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