Variant report

Variant	rs59394320
Chromosome Location	chr22:30233223-30233224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30233038-30233301	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30216228..30218392-chr22:30231989..30234163,2	K562	blood:
2	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
3	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
4	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
5	chr22:30199503..30202747-chr22:30231620..30235442,3	MCF-7	breast:
6	chr22:30228546..30230856-chr22:30232707..30235317,4	MCF-7	breast:
7	chr22:30232501..30234053-chr22:30238394..30240454,2	K562	blood:
8	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
9	chr22:30226725..30230027-chr22:30233173..30235923,3	MCF-7	breast:
10	chr22:30209515..30211458-chr22:30232926..30235230,2	K562	blood:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100325	Chromatin interaction
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1071962	0.92[ASN][1000 genomes]
rs12158466	0.84[EUR][1000 genomes]
rs12159277	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12627866	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12628028	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12628234	0.85[EUR][1000 genomes]
rs12628545	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs14115	0.84[EUR][1000 genomes]
rs16987142	0.92[EUR][1000 genomes]
rs16988049	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17711461	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17711508	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2018808	0.90[EUR][1000 genomes]
rs2240364	0.89[EUR][1000 genomes]
rs2240365	0.87[EUR][1000 genomes]
rs2240366	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs249399	0.85[ASN][1000 genomes]
rs28730892	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57122143	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58015017	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997518	0.84[EUR][1000 genomes]
rs5997519	0.84[EUR][1000 genomes]
rs5997520	0.90[EUR][1000 genomes]
rs5997524	0.90[EUR][1000 genomes]
rs6006247	0.90[EUR][1000 genomes]
rs6006249	0.90[EUR][1000 genomes]
rs6006250	0.90[EUR][1000 genomes]
rs6006262	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60805530	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61413958	0.85[AMR][1000 genomes]
rs61616383	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7285660	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7285800	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7287777	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289250	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73392899	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73394814	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73394831	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73394838	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737721	0.82[AMR][1000 genomes]
rs737728	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs740116	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8138165	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:30208800-30233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30209800-30233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:30218600-30233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:30219600-30233400	Weak transcription	Fetal Kidney	kidney
6	chr22:30221400-30233400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr22:30221600-30233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:30221800-30233400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr22:30221800-30233600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:30222000-30233600	Weak transcription	Small Intestine	intestine
11	chr22:30227600-30233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:30228000-30233400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:30228000-30233400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:30228400-30233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:30228400-30233400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:30229000-30233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:30229400-30233400	Weak transcription	Brain Angular Gyrus	brain
18	chr22:30229600-30233400	Weak transcription	Fetal Lung	lung
19	chr22:30229600-30233400	Weak transcription	HSMMtube	muscle
20	chr22:30230000-30233400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:30230200-30233400	Weak transcription	NHDF-Ad	bronchial
22	chr22:30230400-30233400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:30230400-30233400	Weak transcription	Placenta	Placenta
24	chr22:30230400-30233600	Weak transcription	Aorta	Aorta
25	chr22:30230600-30233400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:30230600-30233600	Weak transcription	Esophagus	oesophagus
27	chr22:30230800-30233400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:30230800-30233400	Weak transcription	Fetal Heart	heart
29	chr22:30231200-30233400	Weak transcription	Fetal Intestine Large	intestine
30	chr22:30231200-30233400	Weak transcription	Ovary	ovary
31	chr22:30231400-30233400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:30231400-30233400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr22:30231600-30233400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr22:30231600-30233400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:30231600-30233400	Enhancers	HUVEC	blood vessel
36	chr22:30231800-30233400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr22:30231800-30233400	Enhancers	Liver	Liver
38	chr22:30232000-30233400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr22:30232000-30234600	Active TSS	GM12878-XiMat	blood
40	chr22:30232200-30233400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr22:30232200-30233400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:30232200-30233400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:30232200-30233600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:30232400-30233400	Enhancers	Primary B cells from peripheral blood	blood
45	chr22:30232400-30233400	Enhancers	Primary T cells from cord blood	blood
46	chr22:30232600-30233400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr22:30232600-30233400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr22:30232600-30233400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:30232800-30233400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr22:30232800-30233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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