Variant report

Variant	rs2162121
Chromosome Location	chr2:47683775-47683776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10175959	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10179452	0.86[ASN][1000 genomes]
rs10188090	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10209369	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11125136	0.85[ASN][1000 genomes]
rs11684661	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11684737	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11694689	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11886591	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11889077	0.81[ASN][1000 genomes]
rs12712993	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12712994	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1981927	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1981928	0.90[ASN][1000 genomes]
rs2059520	0.89[ASN][1000 genomes]
rs2081483	0.81[ASN][1000 genomes]
rs2081484	0.85[ASN][1000 genomes]
rs2081485	0.82[ASN][1000 genomes]
rs2347794	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2347795	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3732182	0.87[ASN][1000 genomes]
rs3732183	0.87[ASN][1000 genomes]
rs3764959	0.86[ASN][1000 genomes]
rs3764960	0.87[ASN][1000 genomes]
rs3771272	0.84[ASN][1000 genomes]
rs3771274	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3771275	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3771276	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3771278	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3771279	0.86[ASN][1000 genomes]
rs3771280	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3771281	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3821227	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4452202	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4550716	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4583514	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4596025	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544989	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6544990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6704794	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6707467	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6711675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6718364	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6719539	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6720555	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6724382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6724876	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725042	0.85[ASN][1000 genomes]
rs6726691	0.89[ASN][1000 genomes]
rs6726832	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6729015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6737303	0.84[ASN][1000 genomes]
rs6739590	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6748435	0.86[ASN][1000 genomes]
rs6754473	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6757035	0.94[ASN][1000 genomes]
rs6758327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759990	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7565513	0.88[ASN][1000 genomes]
rs7575871	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586575	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7596629	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7599880	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7607076	0.90[ASN][1000 genomes]
rs7607312	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs876936	0.81[AFR][1000 genomes];0.82[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
3	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
4	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
5	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
6	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:47644800-47692000	Weak transcription	Fetal Brain Male	brain
9	chr2:47658000-47690400	Weak transcription	NHEK	skin
10	chr2:47658000-47707000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:47658000-47714200	Weak transcription	Small Intestine	intestine
12	chr2:47658200-47690200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:47658200-47690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:47658200-47690400	Weak transcription	Left Ventricle	heart
15	chr2:47658200-47690600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:47658200-47691000	Weak transcription	Gastric	stomach
17	chr2:47658200-47692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:47658200-47692600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:47658200-47709200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:47658200-47710400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:47658200-47713400	Weak transcription	Fetal Heart	heart
22	chr2:47658200-47714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:47658200-47714800	Weak transcription	HSMMtube	muscle
24	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:47658400-47690200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:47658400-47690200	Weak transcription	Fetal Kidney	kidney
27	chr2:47658400-47690200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:47658400-47690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:47658400-47690400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:47658400-47690400	Weak transcription	Placenta	Placenta
31	chr2:47658400-47690600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:47658400-47690800	Weak transcription	HSMM	muscle
33	chr2:47658400-47691000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:47658400-47695200	Weak transcription	NHLF	lung
35	chr2:47658400-47713600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:47658400-47716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:47658800-47712600	Weak transcription	Osteobl	bone
38	chr2:47659000-47690400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:47659600-47690400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:47661600-47684200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:47661800-47690400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:47661800-47692200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:47662000-47684600	Weak transcription	Brain Germinal Matrix	brain
44	chr2:47662000-47690000	Weak transcription	Fetal Intestine Large	intestine
45	chr2:47663600-47684800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:47664000-47684200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:47664200-47686800	Weak transcription	GM12878-XiMat	blood
48	chr2:47665600-47690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:47665800-47690000	Weak transcription	NH-A	brain
50	chr2:47666000-47687000	Weak transcription	HUVEC	blood vessel

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