Variant report

Variant	rs61652727
Chromosome Location	chr2:73275945-73275946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73275006..73276805-chr2:73291193..73293194,2	K562	blood:
2	chr2:73275749..73277382-chr2:73286983..73288785,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1046183	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10496188	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13404068	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17008541	0.82[EUR][1000 genomes]
rs17008565	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17008579	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17008608	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421099	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3849393	0.81[EUR][1000 genomes]
rs56931614	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56992198	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57875548	0.84[AMR][1000 genomes]
rs58469852	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58617186	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58659495	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58731407	0.83[EUR][1000 genomes]
rs59108557	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59802755	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60341789	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61061024	0.85[EUR][1000 genomes]
rs61164794	0.81[EUR][1000 genomes]
rs62147718	0.82[EUR][1000 genomes]
rs62147722	0.83[EUR][1000 genomes]
rs62147726	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62147727	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62147728	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62147731	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147733	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147735	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147756	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62148130	0.81[EUR][1000 genomes]
rs66570372	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67421457	0.80[AMR][1000 genomes]
rs6753054	0.81[EUR][1000 genomes]
rs6753133	0.81[EUR][1000 genomes]
rs6753301	0.81[EUR][1000 genomes]
rs67673165	0.81[EUR][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv20443	chr2:73270284-73280427	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
4	chr2:73247400-73283800	Weak transcription	Dnd41	blood
5	chr2:73248200-73277200	Weak transcription	HMEC	breast
6	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
8	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
9	chr2:73249600-73277000	Weak transcription	NH-A	brain
10	chr2:73249600-73290000	Weak transcription	NHLF	lung
11	chr2:73250000-73277200	Weak transcription	HSMMtube	muscle
12	chr2:73250200-73284200	Weak transcription	Ovary	ovary
13	chr2:73250400-73277200	Weak transcription	Placenta	Placenta
14	chr2:73250800-73276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:73253200-73280800	Weak transcription	Fetal Lung	lung
16	chr2:73256800-73279400	Weak transcription	Osteobl	bone
17	chr2:73256800-73280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:73256800-73290000	Weak transcription	HSMM	muscle
19	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
20	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:73260600-73284400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:73260800-73279200	Weak transcription	Fetal Intestine Large	intestine
23	chr2:73260800-73283800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:73261400-73282000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:73261400-73284200	Weak transcription	Gastric	stomach
26	chr2:73262400-73280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:73262800-73290600	Weak transcription	NHEK	skin
28	chr2:73263800-73277000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:73263800-73277200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:73264000-73276600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:73264000-73276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:73264000-73280800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:73264400-73276800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:73264400-73277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:73264400-73277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:73264400-73277600	Weak transcription	Fetal Brain Female	brain
38	chr2:73264400-73280000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:73264600-73277200	Weak transcription	Fetal Brain Male	brain
40	chr2:73264600-73284400	Weak transcription	Esophagus	oesophagus
41	chr2:73265600-73276800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:73265600-73283800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:73267400-73276800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:73267800-73289400	Weak transcription	K562	blood
45	chr2:73268000-73280400	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:73268000-73280800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:73268000-73281800	Weak transcription	A549	lung
48	chr2:73268000-73284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:73268200-73277200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:73268200-73277200	Weak transcription	Spleen	Spleen

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