Variant report

Variant	rs9646633
Chromosome Location	chr19:44575027-44575028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44554851..44557017-chr19:44574695..44576778,3	MCF-7	breast:
2	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178386	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11083734	0.82[ASN][1000 genomes]
rs11083735	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083736	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083737	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11666432	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12610472	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1474061	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996409	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2138823	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2138824	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176431	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35120085	0.81[ASN][1000 genomes]
rs382197	0.82[EUR][1000 genomes]
rs3826941	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4239528	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427608	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4299256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371266	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375771	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4444434	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451388	0.86[EUR][1000 genomes]
rs454904	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4550576	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4555257	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580302	0.81[ASN][1000 genomes]
rs4803668	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803672	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803674	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55798868	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56003307	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56230322	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56250154	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57895932	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115491	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62119177	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509135	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509137	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509139	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7251015	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7252213	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255192	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7257809	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8105003	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109313	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109615	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110348	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9646633	ZNF223	cis	lung	GTEx
rs9646633	ZNF223	cis	Adipose Subcutaneous	GTEx
rs9646633	ZNF223	cis	Nerve Tibial	GTEx
rs9646633	ZNF223	cis	Thyroid	GTEx
rs9646633	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
3	chr19:44568000-44575400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:44570600-44575400	Weak transcription	HepG2	liver
5	chr19:44571200-44575600	Weak transcription	Right Ventricle	heart
6	chr19:44571200-44575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44571400-44575400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:44571400-44575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:44571400-44575600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:44571400-44575600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:44571400-44575600	Weak transcription	Fetal Thymus	thymus
12	chr19:44571600-44575400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:44571800-44575400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:44571800-44575400	Weak transcription	Brain Substantia Nigra	brain
15	chr19:44571800-44575600	Weak transcription	Thymus	Thymus
16	chr19:44571800-44575800	Weak transcription	HUVEC	blood vessel
17	chr19:44572000-44575400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:44572000-44575600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:44572000-44575600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:44572000-44575600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:44572000-44575600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:44572000-44575600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:44572000-44575600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:44572000-44575600	Weak transcription	Colonic Mucosa	Colon
25	chr19:44572000-44575600	Weak transcription	Fetal Brain Male	brain
26	chr19:44572000-44575600	Weak transcription	Fetal Heart	heart
27	chr19:44572000-44575600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:44572000-44575600	Weak transcription	NH-A	brain
29	chr19:44572000-44575600	Weak transcription	Osteobl	bone
30	chr19:44572000-44575800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:44572000-44575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:44572000-44575800	Weak transcription	Fetal Kidney	kidney
33	chr19:44572000-44575800	Weak transcription	NHDF-Ad	bronchial
34	chr19:44572000-44575800	Weak transcription	NHLF	lung
35	chr19:44572200-44575200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:44572200-44575400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:44572200-44575400	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:44572200-44575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:44572200-44575600	Weak transcription	Brain Anterior Caudate	brain
40	chr19:44572200-44575600	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:44572200-44575600	Weak transcription	Left Ventricle	heart
42	chr19:44572200-44575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:44572400-44575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:44572600-44575200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:44572600-44575200	Weak transcription	Psoas Muscle	Psoas
46	chr19:44572600-44575400	Weak transcription	Brain Angular Gyrus	brain
47	chr19:44572600-44575600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr19:44572600-44575800	Weak transcription	Ovary	ovary
49	chr19:44572800-44575400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:44572800-44575400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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