Variant report

Variant	rs72865567
Chromosome Location	chr2:32520645-32520646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55665681	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57272947	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57785665	0.86[AFR][1000 genomes]
rs59398369	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59675286	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60123798	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61119054	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61754192	1.00[ASN][1000 genomes]
rs6737177	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6741519	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72798713	1.00[ASN][1000 genomes]
rs72865559	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865565	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865574	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865577	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865581	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865589	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865596	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865597	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72867203	0.84[AFR][1000 genomes]
rs72867205	0.84[AFR][1000 genomes]
rs72867248	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
5	chr2:32504200-32524400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
7	chr2:32507600-32528000	Weak transcription	GM12878-XiMat	blood
8	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:32510000-32528200	Weak transcription	Esophagus	oesophagus
11	chr2:32510200-32525800	Weak transcription	K562	blood
12	chr2:32510200-32528200	Weak transcription	Pancreas	Pancrea
13	chr2:32510200-32528200	Weak transcription	Right Ventricle	heart
14	chr2:32513600-32527600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:32514000-32524600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:32514000-32528200	Weak transcription	Gastric	stomach
17	chr2:32514000-32531200	Weak transcription	Psoas Muscle	Psoas
18	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
19	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
20	chr2:32514600-32524200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:32514800-32522800	Weak transcription	NH-A	brain
22	chr2:32514800-32525800	Weak transcription	HMEC	breast
23	chr2:32514800-32525800	Weak transcription	NHDF-Ad	bronchial
24	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:32515000-32525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:32515000-32525800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:32515000-32527800	Weak transcription	Hela-S3	cervix
28	chr2:32515000-32528000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:32515000-32528200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:32515000-32533400	Weak transcription	NHLF	lung
31	chr2:32515400-32524200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:32515400-32525800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:32515400-32538800	Weak transcription	NHEK	skin
34	chr2:32515600-32524200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:32515600-32525800	Weak transcription	HUVEC	blood vessel
36	chr2:32515800-32533200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:32516400-32531000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:32516400-32531800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:32517200-32536200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:32517400-32525800	Weak transcription	HSMM	muscle
41	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
42	chr2:32517600-32520800	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr2:32517600-32521600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:32517800-32521000	Weak transcription	Osteobl	bone
45	chr2:32517800-32522800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:32517800-32522800	Weak transcription	HepG2	liver
47	chr2:32517800-32526200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:32518600-32520800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:32518600-32520800	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr2:32518600-32521400	Strong transcription	H1 Cell Line	embryonic stem cell

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