Variant report

Variant	rs73096595
Chromosome Location	chr1:220287235-220287236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220266934..220269601-chr1:220286713..220289289,2	K562	blood:
2	chr1:220266934..220268710-chr1:220286713..220288993,3	K562	blood:
3	chr1:220285273..220288143-chr1:220290128..220292284,2	K562	blood:
4	chr1:220279596..220282587-chr1:220284758..220287286,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207590	Chromatin interaction
ENSG00000207624	Chromatin interaction
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1039206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031256	0.90[EUR][1000 genomes]
rs12037712	0.83[AFR][1000 genomes]
rs12045447	0.83[AFR][1000 genomes]
rs17007107	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17007139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767656	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3820455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41274792	0.89[ASN][1000 genomes]
rs57463200	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58256586	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58966246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59935950	0.81[AFR][1000 genomes]
rs60736051	0.85[AFR][1000 genomes]
rs73096563	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73096575	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73096577	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73098512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73098518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73098527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73098528	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098530	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098537	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098550	0.83[AFR][1000 genomes]
rs73098551	0.83[AFR][1000 genomes]
rs73098553	0.83[AFR][1000 genomes]
rs73098579	0.81[AFR][1000 genomes]
rs874331	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 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	chr1:220268400-220287400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:220268400-220293400	Weak transcription	Stomach Mucosa	stomach
3	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:220268600-220293800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:220269200-220291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:220269200-220291600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:220269200-220292800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:220269200-220293600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:220269400-220291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:220269600-220290600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:220269600-220291200	Strong transcription	Liver	Liver
13	chr1:220269600-220291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:220269600-220291400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:220269600-220291400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:220269600-220291600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:220269600-220291800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:220269800-220291000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:220269800-220291200	Strong transcription	Fetal Thymus	thymus
20	chr1:220269800-220291600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:220269800-220292800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:220270000-220291200	Strong transcription	Placenta	Placenta
23	chr1:220270000-220291600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:220270000-220292800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:220270400-220290000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr1:220270400-220291600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:220270600-220293800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:220271000-220292000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:220272000-220293200	Strong transcription	Dnd41	blood
30	chr1:220273400-220287400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:220274600-220291200	Strong transcription	Adipose Nuclei	Adipose
32	chr1:220275400-220289400	Strong transcription	GM12878-XiMat	blood
33	chr1:220276000-220289800	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:220276400-220290400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:220277400-220289200	Weak transcription	Brain Substantia Nigra	brain
36	chr1:220277400-220290000	Strong transcription	Fetal Lung	lung
37	chr1:220278600-220288200	Weak transcription	Right Ventricle	heart
38	chr1:220278600-220316200	Weak transcription	Pancreas	Pancrea
39	chr1:220281200-220287600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:220281200-220287600	Weak transcription	HUVEC	blood vessel
41	chr1:220281200-220295200	Weak transcription	Right Atrium	heart
42	chr1:220281400-220287400	Weak transcription	Hela-S3	cervix
43	chr1:220281400-220288600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:220281400-220300600	Weak transcription	NHLF	lung
45	chr1:220281400-220307200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:220281400-220307800	Weak transcription	Psoas Muscle	Psoas
47	chr1:220281400-220314400	Weak transcription	Fetal Brain Male	brain
48	chr1:220282400-220291000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:220282600-220289800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr1:220283000-220290000	Strong transcription	K562	blood

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