Variant report

Variant	rs6708480
Chromosome Location	chr2:73767120-73767121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10192708	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10496189	1.00[ASN][1000 genomes]
rs11884364	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890811	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900562	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466032	1.00[ASN][1000 genomes]
rs12475442	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475618	1.00[ASN][1000 genomes]
rs12477496	0.80[AMR][1000 genomes]
rs12479158	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479243	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358452	1.00[ASN][1000 genomes]
rs1403283	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009036	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17009051	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17009061	1.00[ASN][1000 genomes]
rs17009070	1.00[ASN][1000 genomes]
rs17848867	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881244	1.00[ASN][1000 genomes]
rs2140194	1.00[ASN][1000 genomes]
rs28730853	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2901451	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34617744	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735981	1.00[ASN][1000 genomes]
rs36057913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60130127	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61335053	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706333	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711285	1.00[ASN][1000 genomes]
rs6718672	1.00[ASN][1000 genomes]
rs6723002	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725385	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734298	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735139	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737693	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746054	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751876	1.00[ASN][1000 genomes]
rs6752342	1.00[ASN][1000 genomes]
rs6752620	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759120	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635972	1.00[EUR][1000 genomes]
rs72635973	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558613	1.00[ASN][1000 genomes]
rs7567443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571147	1.00[ASN][1000 genomes]
rs7574950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577699	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7587537	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599369	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7600935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603754	1.00[ASN][1000 genomes]
rs7608706	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
2	chr2:73741000-73767400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:73744200-73799800	Weak transcription	NH-A	brain
4	chr2:73747800-73786800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:73758000-73799800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:73758200-73785800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:73758200-73800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:73758400-73786800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:73759400-73774200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
11	chr2:73760400-73767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:73760400-73769200	Weak transcription	Gastric	stomach
13	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
14	chr2:73760800-73787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:73762000-73786600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:73763800-73785200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:73764200-73777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:73764200-73785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:73764400-73785800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:73764600-73806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:73765200-73785000	Weak transcription	Fetal Kidney	kidney
23	chr2:73765200-73786600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:73765400-73767600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:73765400-73786200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:73765400-73786200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:73765400-73786200	Weak transcription	HSMM	muscle
29	chr2:73765400-73792000	Weak transcription	HSMMtube	muscle
30	chr2:73765400-73808400	Weak transcription	HepG2	liver
31	chr2:73765600-73774600	Weak transcription	Primary T cells from cord blood	blood
32	chr2:73765600-73786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:73765600-73786200	Weak transcription	Fetal Lung	lung
34	chr2:73765600-73787200	Weak transcription	A549	lung
35	chr2:73765600-73799600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:73765800-73768600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:73765800-73777000	Weak transcription	Dnd41	blood
38	chr2:73765800-73777200	Weak transcription	Liver	Liver
39	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
41	chr2:73766000-73777800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:73766000-73785000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:73766000-73786000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:73766000-73793400	Weak transcription	Aorta	Aorta
45	chr2:73766000-73807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:73766400-73768000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:73766400-73775000	Weak transcription	Ovary	ovary
48	chr2:73766400-73775600	Weak transcription	Fetal Stomach	stomach
49	chr2:73766400-73778000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:73766400-73778200	Weak transcription	Fetal Intestine Small	intestine

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