Variant report

Variant	rs72938283
Chromosome Location	chr2:110342188-110342189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28361394	0.87[AFR][1000 genomes]
rs28374561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28581222	0.91[AFR][1000 genomes]
rs28603269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28658552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707057	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718793	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721931	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60978762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61054424	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938243	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938247	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940226	1.00[AMR][1000 genomes]
rs9653605	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110293400-110352200	Weak transcription	Gastric	stomach
2	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:110302400-110343000	Weak transcription	Psoas Muscle	Psoas
5	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:110308600-110358600	Weak transcription	Small Intestine	intestine
7	chr2:110309000-110347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:110309800-110351600	Weak transcription	Pancreas	Pancrea
9	chr2:110310200-110351600	Weak transcription	Fetal Brain Male	brain
10	chr2:110310400-110351600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:110310400-110351800	Weak transcription	Fetal Brain Female	brain
12	chr2:110310400-110353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:110318200-110348400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:110319200-110367400	Weak transcription	HSMMtube	muscle
16	chr2:110319400-110358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:110320600-110354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:110323400-110343800	Weak transcription	Aorta	Aorta
19	chr2:110323400-110348000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:110323400-110348200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:110323600-110344200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:110324000-110342800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:110324000-110348400	Weak transcription	Hela-S3	cervix
24	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus
25	chr2:110324200-110342800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:110324200-110348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:110324600-110362200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:110325400-110343800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:110325800-110342800	Weak transcription	A549	lung
30	chr2:110328800-110349000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:110329000-110369000	Weak transcription	Ovary	ovary
32	chr2:110329200-110342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:110329200-110359400	Weak transcription	NHLF	lung
34	chr2:110329200-110369400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:110329400-110359600	Weak transcription	NHDF-Ad	bronchial
36	chr2:110329600-110351200	Weak transcription	HMEC	breast
37	chr2:110329600-110351600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:110329800-110351600	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:110331800-110342800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:110332000-110348200	Weak transcription	Right Ventricle	heart
41	chr2:110332200-110352600	Weak transcription	Fetal Lung	lung
42	chr2:110332400-110342800	Weak transcription	Left Ventricle	heart
43	chr2:110333800-110344400	Weak transcription	Liver	Liver
44	chr2:110335600-110346600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:110336200-110342600	Weak transcription	HSMM	muscle
46	chr2:110336200-110342800	Weak transcription	NH-A	brain
47	chr2:110336600-110343000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:110336600-110348600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:110337600-110344400	Strong transcription	HepG2	liver
50	chr2:110338600-110354600	Weak transcription	Right Atrium	heart

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