Variant report

Variant	rs72708008
Chromosome Location	chr1:169478105-169478106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:169431261..169433752-chr1:169476428..169478805,3	K562	blood:
2	chr1:169452842..169455607-chr1:169476881..169480160,5	K562	blood:
3	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
4	chr1:169461542..169463578-chr1:169476860..169479328,2	K562	blood:
5	chr1:169465829..169468810-chr1:169477819..169479657,2	MCF-7	breast:
6	chr1:169452842..169460813-chr1:169474364..169480814,10	K562	blood:
7	chr1:169451858..169456935-chr1:169476541..169486862,15	MCF-7	breast:
8	chr1:169477985..169481647-chr1:169506965..169511270,5	MCF-7	breast:
9	chr1:169474592..169479041-chr1:169479760..169483418,4	K562	blood:
10	chr1:169476802..169481525-chr1:169483770..169486854,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198734	Chromatin interaction
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10800452	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10919184	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10919185	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12024849	0.95[ASN][1000 genomes]
rs12025910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239964	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12405595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1557571	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1800595	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894693	0.90[AMR][1000 genomes]
rs1894703	0.95[ASN][1000 genomes]
rs2227243	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301516	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301519	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301520	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2420134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440913	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6018	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6024	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6027	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6037	0.84[AMR][1000 genomes]
rs72708013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708039	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs916439	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9332601	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9332609	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9332614	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9332629	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9332639	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332641	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332646	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332654	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332659	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966751	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169475800-169481600	Enhancers	Liver	Liver
2	chr1:169476600-169478600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr1:169476800-169478200	Flanking Active TSS	HepG2	liver
4	chr1:169476800-169478400	Enhancers	A549	lung
5	chr1:169477200-169478200	Enhancers	Primary T cells from cord blood	blood
6	chr1:169477200-169478400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:169477400-169478200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:169477400-169478200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:169477400-169478400	Flanking Active TSS	K562	blood
10	chr1:169477400-169478600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:169477400-169479400	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:169477400-169479800	Enhancers	HUVEC	blood vessel
13	chr1:169477600-169478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:169477600-169478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:169477600-169478200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:169477600-169478200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:169477600-169478200	Enhancers	Fetal Intestine Small	intestine
18	chr1:169477600-169478200	Enhancers	Small Intestine	intestine
19	chr1:169477600-169478200	Enhancers	Hela-S3	cervix
20	chr1:169477600-169478400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:169477600-169478400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:169477600-169478400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:169477600-169478600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:169477600-169478600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:169477600-169478600	Enhancers	Dnd41	blood
26	chr1:169477600-169478800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:169477600-169478800	Enhancers	Adipose Nuclei	Adipose
28	chr1:169477600-169478800	Enhancers	Fetal Lung	lung
29	chr1:169477600-169479000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:169477600-169479000	Enhancers	Stomach Mucosa	stomach
31	chr1:169477600-169480000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:169477600-169481200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr1:169477800-169478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:169477800-169478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:169477800-169478200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr1:169477800-169478400	Weak transcription	Psoas Muscle	Psoas
37	chr1:169477800-169482600	Weak transcription	Placenta	Placenta
38	chr1:169477800-169482600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:169478000-169478200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:169478000-169478200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:169478000-169478200	Enhancers	NHLF	lung
42	chr1:169478000-169478400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr1:169478000-169482600	Weak transcription	Primary monocytes fromperipheralblood	blood

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