Variant report

Variant	rs73096577
Chromosome Location	chr1:220266155-220266156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220260533..220264899-chr1:220265232..220269626,12	MCF-7	breast:
2	chr1:220218535..220220494-chr1:220265581..220269628,4	MCF-7	breast:
3	chr1:220090768..220093296-chr1:220265981..220268772,2	K562	blood:
4	chr1:220215698..220221065-chr1:220265352..220268996,5	K562	blood:
5	chr1:220219736..220221759-chr1:220265959..220267842,3	K562	blood:
6	chr1:220218169..220221765-chr1:220261064..220269153,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196660	Chromatin interaction
ENSG00000162813	Chromatin interaction
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1039206	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1124763	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17007107	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17007139	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820455	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41274792	0.98[ASN][1000 genomes]
rs57463200	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58256586	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58966246	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58990204	0.80[ASN][1000 genomes]
rs73096563	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73096575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096595	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73098512	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73098518	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73098527	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73098528	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73098530	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73098537	0.84[AFR][1000 genomes];0.81[EUR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
2	chr1:220263800-220266400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:220263800-220266800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:220263800-220266800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:220263800-220266800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:220263800-220266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:220263800-220266800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:220263800-220266800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:220263800-220266800	Weak transcription	Fetal Lung	lung
10	chr1:220263800-220266800	Weak transcription	Right Atrium	heart
11	chr1:220263800-220267000	Weak transcription	Stomach Mucosa	stomach
12	chr1:220263800-220267000	Weak transcription	Osteobl	bone
13	chr1:220263800-220267400	Weak transcription	HUVEC	blood vessel
14	chr1:220263800-220267400	Weak transcription	NHLF	lung
15	chr1:220264000-220266200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:220264000-220266200	Weak transcription	GM12878-XiMat	blood
17	chr1:220264000-220266400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:220264000-220266400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:220264000-220266600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:220264000-220266600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:220264000-220266600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:220264000-220266600	Weak transcription	Adipose Nuclei	Adipose
23	chr1:220264000-220266600	Weak transcription	Liver	Liver
24	chr1:220264000-220266600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:220264000-220266600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:220264000-220266600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:220264000-220266800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:220264000-220266800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:220264000-220266800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:220264000-220266800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:220264000-220266800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:220264000-220266800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:220264000-220266800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:220264000-220266800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:220264000-220266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:220264000-220266800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:220264000-220266800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:220264000-220266800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:220264000-220266800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:220264000-220266800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:220264000-220266800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:220264000-220266800	Weak transcription	Fetal Intestine Large	intestine
43	chr1:220264000-220266800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:220264000-220266800	Weak transcription	Fetal Thymus	thymus
45	chr1:220264000-220266800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:220264000-220266800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:220264000-220266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:220264000-220266800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:220264000-220266800	Weak transcription	A549	lung
50	chr1:220264000-220266800	Weak transcription	Dnd41	blood

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