Variant report

Variant	rs7571916
Chromosome Location	chr2:63062671-63062672
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10153716	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1022110	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11682530	0.91[EUR][1000 genomes]
rs11893131	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13418889	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1420018	0.91[EUR][1000 genomes]
rs1468748	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17027429	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1828398	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2058566	0.89[EUR][1000 genomes]
rs2058567	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2080227	0.94[ASN][1000 genomes]
rs2215870	0.87[EUR][1000 genomes]
rs2421816	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2430388	0.87[EUR][1000 genomes]
rs2539978	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2539984	0.89[ASN][1000 genomes]
rs2539985	0.90[EUR][1000 genomes]
rs2710637	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2710639	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2710640	0.87[EUR][1000 genomes]
rs2710642	0.90[EUR][1000 genomes]
rs34104251	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4461246	0.84[EUR][1000 genomes]
rs4671051	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545971	0.88[EUR][1000 genomes]
rs6545972	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545973	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6705798	0.81[EUR][1000 genomes]
rs6714241	0.94[ASN][1000 genomes]
rs7557501	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7562149	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7562734	0.90[EUR][1000 genomes]
rs7567923	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9789661	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9973612	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
2	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
5	chr2:63040600-63082000	Weak transcription	Lung	lung
6	chr2:63045600-63072400	Weak transcription	NHEK	skin
7	chr2:63046400-63101800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:63048800-63063400	Weak transcription	Right Ventricle	heart
9	chr2:63049600-63065800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:63050600-63091800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:63052000-63099600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:63052200-63064400	Weak transcription	Placenta	Placenta
13	chr2:63052200-63098200	Weak transcription	Hela-S3	cervix
14	chr2:63053200-63063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:63054400-63063000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:63054600-63067800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:63054600-63099800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:63054800-63063000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:63054800-63063400	Weak transcription	HUVEC	blood vessel
20	chr2:63054800-63091600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:63055000-63082000	Weak transcription	Esophagus	oesophagus
22	chr2:63056400-63081800	Weak transcription	NHLF	lung
23	chr2:63059600-63063000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:63060800-63062800	Weak transcription	Fetal Stomach	stomach
25	chr2:63060800-63069400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:63060800-63081000	Weak transcription	Left Ventricle	heart
27	chr2:63060800-63081800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:63061000-63073000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:63061000-63073200	Weak transcription	NH-A	brain
30	chr2:63061000-63080400	Weak transcription	Aorta	Aorta
31	chr2:63061200-63062800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:63061200-63063400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:63061200-63063600	Weak transcription	K562	blood
34	chr2:63061200-63071400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:63061200-63080800	Weak transcription	Psoas Muscle	Psoas
36	chr2:63061200-63115200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:63061400-63071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:63061400-63071200	Weak transcription	Ovary	ovary
39	chr2:63061400-63080400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:63061400-63102000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:63061600-63064000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:63061600-63071800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:63061600-63072600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:63061600-63082000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:63061800-63063400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:63061800-63073200	Weak transcription	Primary B cells from cord blood	blood
47	chr2:63061800-63080800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:63062000-63062800	Weak transcription	Fetal Intestine Large	intestine
49	chr2:63062000-63063000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:63062000-63064200	Weak transcription	Duodenum Mucosa	Duodenum

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