Variant report

Variant	rs2021622
Chromosome Location	chr13:49651918-49651919
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs12872974	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1359066	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407827	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1407829	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1928109	0.83[EUR][1000 genomes]
rs1928110	0.86[EUR][1000 genomes]
rs1937180	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1937181	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1983805	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2026029	0.86[EUR][1000 genomes]
rs2146748	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2149498	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2181537	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181538	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181539	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183095	0.83[EUR][1000 genomes]
rs2224742	0.88[ASN][1000 genomes]
rs2407265	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2407266	0.83[EUR][1000 genomes]
rs2897633	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2987528	0.83[EUR][1000 genomes]
rs2987535	0.82[EUR][1000 genomes]
rs2994377	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994378	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994379	0.88[EUR][1000 genomes]
rs2994380	0.88[EUR][1000 genomes]
rs2994381	0.88[EUR][1000 genomes]
rs3012116	0.83[EUR][1000 genomes]
rs3012117	0.83[EUR][1000 genomes]
rs3012118	0.84[EUR][1000 genomes]
rs3012121	0.83[EUR][1000 genomes]
rs3012127	0.88[EUR][1000 genomes]
rs3012133	0.81[EUR][1000 genomes]
rs3012135	0.82[EUR][1000 genomes]
rs3012136	0.82[EUR][1000 genomes]
rs34360275	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35018425	0.82[EUR][1000 genomes]
rs4142065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245350	0.82[EUR][1000 genomes]
rs4530025	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942795	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4942796	0.85[EUR][1000 genomes]
rs4942798	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4942799	0.86[EUR][1000 genomes]
rs4942800	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561491	0.83[EUR][1000 genomes]
rs6561493	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561496	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561497	0.90[ASN][1000 genomes]
rs6561504	0.81[EUR][1000 genomes]
rs7139819	0.83[EUR][1000 genomes]
rs7139854	0.86[EUR][1000 genomes]
rs716722	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs728075	0.85[EUR][1000 genomes]
rs7317908	0.82[EUR][1000 genomes]
rs7318871	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7328000	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7329291	0.84[EUR][1000 genomes]
rs7331917	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7333097	0.99[ASN][1000 genomes]
rs7333285	0.82[EUR][1000 genomes]
rs7338529	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7983885	0.86[EUR][1000 genomes]
rs7986624	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7988168	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7989175	0.99[ASN][1000 genomes]
rs7990573	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7994845	0.81[EUR][1000 genomes]
rs7994910	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7995616	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7997118	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7998359	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7999513	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9316426	0.85[EUR][1000 genomes]
rs9316428	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9316429	0.82[ASN][1000 genomes]
rs9526518	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9526520	0.86[EUR][1000 genomes]
rs9526521	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9526525	0.81[EUR][1000 genomes]
rs9535126	0.82[EUR][1000 genomes]
rs9535133	0.86[EUR][1000 genomes]
rs9535136	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535140	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535141	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535145	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9535146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535147	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535149	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535154	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9535155	0.81[EUR][1000 genomes]
rs9535156	0.83[EUR][1000 genomes]
rs9562866	0.86[EUR][1000 genomes]
rs9562870	0.81[EUR][1000 genomes]
rs9568150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568151	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568154	0.88[ASN][1000 genomes]
rs9591235	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9596064	0.86[AMR][1000 genomes];0.92[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking 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	20 gene(s)	inside rSNPs	diseases
5	esv1803100	chr13:49576474-49655941	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:49603200-49652200	Weak transcription	Dnd41	blood
4	chr13:49608800-49658800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr13:49627200-49656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:49627400-49656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:49628600-49656600	Weak transcription	Thymus	Thymus
9	chr13:49628800-49657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:49629000-49665600	Weak transcription	Lung	lung
11	chr13:49629600-49665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:49630200-49656800	Weak transcription	Aorta	Aorta
13	chr13:49630400-49664000	Weak transcription	Fetal Intestine Small	intestine
14	chr13:49632200-49664800	Weak transcription	Fetal Lung	lung
15	chr13:49635000-49664400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr13:49636200-49652800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:49636800-49652800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:49636800-49667800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr13:49637800-49656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:49638800-49656400	Weak transcription	HMEC	breast
21	chr13:49639000-49656400	Weak transcription	NHEK	skin
22	chr13:49639600-49656800	Weak transcription	Gastric	stomach
23	chr13:49639600-49656800	Weak transcription	Ovary	ovary
24	chr13:49639600-49687200	Weak transcription	Pancreas	Pancrea
25	chr13:49640600-49683800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:49641200-49663200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr13:49641800-49671600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:49642800-49652200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:49642800-49654400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:49643800-49657000	Weak transcription	HSMM	muscle
31	chr13:49645000-49671000	Weak transcription	Small Intestine	intestine
32	chr13:49646400-49660800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:49647600-49656200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:49648600-49656600	Weak transcription	HSMMtube	muscle
35	chr13:49648800-49659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr13:49649000-49658600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:49649200-49653000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr13:49649200-49655400	Strong transcription	Placenta	Placenta
39	chr13:49649400-49652000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:49649400-49684200	Weak transcription	Right Ventricle	heart
41	chr13:49649600-49652000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr13:49649600-49652000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr13:49649600-49653800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:49649600-49654000	Weak transcription	HepG2	liver
45	chr13:49649600-49656400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr13:49649600-49656800	Weak transcription	NHLF	lung
47	chr13:49649600-49660400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr13:49649800-49657000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:49649800-49657000	Weak transcription	K562	blood
50	chr13:49649800-49671600	Weak transcription	Brain Hippocampus Middle	brain

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