Variant report

Variant	rs72798728
Chromosome Location	chr2:32513577-32513578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32507841..32511322-chr2:32512913..32517224,5	K562	blood:
2	chr2:32506836..32510014-chr2:32511011..32514879,4	K562	blood:
3	chr2:32511764..32514453-chr2:32515408..32518077,2	K562	blood:
4	chr2:32496345..32498721-chr2:32512655..32514549,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1046602	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475684	0.84[EUR][1000 genomes]
rs17011943	0.82[EUR][1000 genomes]
rs35368935	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952257	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952259	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952260	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788900	0.84[EUR][1000 genomes]
rs57813560	0.84[EUR][1000 genomes]
rs61045200	1.00[ASN][1000 genomes]
rs61439415	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134039	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134043	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134044	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134045	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134050	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134052	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134054	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62134059	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62136263	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62136264	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62136276	0.82[EUR][1000 genomes]
rs62136278	0.84[EUR][1000 genomes]
rs62136279	0.82[EUR][1000 genomes]
rs72798733	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32503600-32518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:32503800-32513600	Weak transcription	Gastric	stomach
3	chr2:32503800-32520400	Weak transcription	Spleen	Spleen
4	chr2:32504000-32513600	Weak transcription	Psoas Muscle	Psoas
5	chr2:32504000-32515400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:32504000-32516800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:32504000-32516800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:32504000-32516800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:32504000-32520200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:32504000-32520600	Weak transcription	Aorta	Aorta
11	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
15	chr2:32504200-32514000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:32504200-32514000	Weak transcription	Osteobl	bone
17	chr2:32504200-32514600	Weak transcription	Brain Angular Gyrus	brain
18	chr2:32504200-32516800	Weak transcription	HSMM	muscle
19	chr2:32504200-32520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:32504200-32520200	Weak transcription	Fetal Kidney	kidney
21	chr2:32504200-32520400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:32504200-32524400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:32504400-32514200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:32504400-32514600	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:32504400-32516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:32504400-32520200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:32504400-32520200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:32504600-32513800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:32504800-32514400	Weak transcription	Hela-S3	cervix
30	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
31	chr2:32505000-32514200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:32505200-32515400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:32507400-32516600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:32507400-32520200	Weak transcription	Fetal Lung	lung
35	chr2:32507600-32516600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:32507600-32520200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:32507600-32528000	Weak transcription	GM12878-XiMat	blood
38	chr2:32507800-32514000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:32507800-32517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:32507800-32520000	Weak transcription	Brain Germinal Matrix	brain
41	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:32508200-32513600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:32508200-32519000	Weak transcription	Lung	lung
44	chr2:32508400-32515600	Weak transcription	Fetal Intestine Large	intestine
45	chr2:32508400-32517000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:32508400-32519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:32508800-32514400	Weak transcription	NH-A	brain
49	chr2:32508800-32514600	Weak transcription	Brain Anterior Caudate	brain
50	chr2:32509600-32513600	Weak transcription	Left Ventricle	heart

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