Variant report

Variant	rs12728331
Chromosome Location	chr1:62320672-62320673
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	chr1:62319433..62321663-chr1:62323711..62326271,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12402847	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408105	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12408315	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410306	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749061	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1286815	0.82[EUR][1000 genomes]
rs2938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34403905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34473594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35180388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35318456	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35722784	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61770106	1.00[ASN][1000 genomes]
rs71641748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
2	esv3693319	chr1:62207254-62402549	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830004	chr1:62242944-62382228	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62228600-62391800	Weak transcription	Small Intestine	intestine
2	chr1:62263800-62343600	Weak transcription	Colonic Mucosa	Colon
3	chr1:62264600-62321600	Weak transcription	Pancreas	Pancrea
4	chr1:62264600-62335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:62271800-62329800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:62285600-62338000	Weak transcription	Fetal Kidney	kidney
7	chr1:62290800-62326000	Weak transcription	Left Ventricle	heart
8	chr1:62293800-62321600	Weak transcription	Esophagus	oesophagus
9	chr1:62293800-62343200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:62294400-62330200	Weak transcription	Fetal Stomach	stomach
11	chr1:62294600-62321000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:62294800-62324000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:62295000-62322600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:62295800-62321600	Weak transcription	Primary T cells from cord blood	blood
15	chr1:62296000-62321400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:62296000-62321400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:62296200-62321600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:62297400-62321400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:62297800-62321600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:62298000-62330000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:62300200-62321800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:62300800-62321400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:62301400-62320800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:62301400-62331400	Weak transcription	Psoas Muscle	Psoas
25	chr1:62302600-62321400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:62302600-62331400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:62303800-62321600	Weak transcription	Liver	Liver
28	chr1:62305600-62320800	Weak transcription	HMEC	breast
29	chr1:62305600-62321600	Weak transcription	NHEK	skin
30	chr1:62308600-62321600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:62308800-62321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:62308800-62331600	Weak transcription	Stomach Mucosa	stomach
33	chr1:62309400-62331400	Weak transcription	Gastric	stomach
34	chr1:62312800-62353200	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:62313000-62321600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:62313000-62321800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:62313000-62330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:62313200-62339400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:62314200-62321200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:62315400-62322800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:62316200-62352200	Weak transcription	Brain Anterior Caudate	brain
42	chr1:62316400-62320800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:62316600-62323800	Weak transcription	Aorta	Aorta
44	chr1:62317200-62325800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:62317200-62326200	Weak transcription	Lung	lung
46	chr1:62317800-62390400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:62318400-62322400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:62318400-62326200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:62319000-62373800	Weak transcription	Brain Angular Gyrus	brain
50	chr1:62319600-62323000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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