Variant report

Variant	rs17163360
Chromosome Location	chr1:222820790-222820791
allele	G/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	KAP1	chr1:222820380-222820951	K562	blood:	n/a	chr1:222820876-222820884

No.	Distal block	Cell Line	Cell type
1	chr1:222817285..222820043-chr1:222820783..222823555,3	K562	blood:
2	chr1:222819105..222820831-chr1:222824168..222826539,3	K562	blood:
3	chr1:222820085..222821953-chr1:222869883..222871470,2	K562	blood:
4	chr1:222816842..222820047-chr1:222820781..222823646,5	K562	blood:

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10495198	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1133220	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12043288	0.84[ASN][1000 genomes]
rs12138316	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17011666	0.92[ASN][1000 genomes]
rs17011681	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163301	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17163313	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17163345	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17163358	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163363	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17465637	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17465940	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17465982	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17532708	0.84[ASN][1000 genomes]
rs1909195	0.91[ASN][1000 genomes]
rs1909197	0.87[ASN][1000 genomes]
rs2133187	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133189	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270707	0.86[ASN][1000 genomes]
rs2291832	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291834	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2378584	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28709375	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34032254	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34767248	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35158675	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35175385	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35626308	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35700460	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725247	0.86[ASN][1000 genomes]
rs3748626	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4282830	0.84[ASN][1000 genomes]
rs4575092	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4846384	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4846769	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4846770	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61824331	0.86[ASN][1000 genomes]
rs67180937	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71524942	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222818200-222823000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:222818200-222826000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:222818200-222826000	Weak transcription	Ovary	ovary
4	chr1:222818200-222826000	Weak transcription	Spleen	Spleen
5	chr1:222818200-222826200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:222818200-222826200	Weak transcription	Esophagus	oesophagus
7	chr1:222818400-222821000	Weak transcription	Fetal Kidney	kidney
8	chr1:222818400-222822200	Weak transcription	Lung	lung
9	chr1:222818400-222822400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:222818400-222822600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:222818400-222822800	Weak transcription	Colonic Mucosa	Colon
12	chr1:222818400-222823000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:222818400-222823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:222818400-222823000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:222818400-222823200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:222818400-222824000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:222818400-222824800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:222818400-222825600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:222818400-222825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:222818400-222825600	Weak transcription	Psoas Muscle	Psoas
21	chr1:222818400-222825600	Weak transcription	Small Intestine	intestine
22	chr1:222818400-222826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:222818400-222826000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:222818400-222826000	Weak transcription	Gastric	stomach
25	chr1:222818400-222826000	Weak transcription	Pancreas	Pancrea
26	chr1:222818400-222826000	Weak transcription	Right Ventricle	heart
27	chr1:222818400-222826200	Weak transcription	Aorta	Aorta
28	chr1:222818400-222826600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:222818400-222827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:222818400-222833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:222818600-222820800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:222818600-222820800	Weak transcription	Fetal Thymus	thymus
33	chr1:222818600-222821200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:222818800-222821400	Weak transcription	Fetal Brain Female	brain
35	chr1:222818800-222822200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:222818800-222822600	Weak transcription	HUVEC	blood vessel
37	chr1:222818800-222822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:222818800-222823000	Weak transcription	Fetal Brain Male	brain
39	chr1:222818800-222823000	Weak transcription	HSMMtube	muscle
40	chr1:222818800-222823200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:222818800-222823200	Weak transcription	Brain Anterior Caudate	brain
42	chr1:222818800-222823200	Weak transcription	Brain Substantia Nigra	brain
43	chr1:222818800-222823800	Weak transcription	HMEC	breast
44	chr1:222818800-222826000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:222818800-222826000	Weak transcription	Fetal Heart	heart
46	chr1:222818800-222841600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:222819000-222820800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:222819000-222821000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:222819000-222821000	Strong transcription	Fetal Lung	lung
50	chr1:222819000-222822200	Weak transcription	Colon Smooth Muscle	Colon

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