Variant report

Variant	rs6738349
Chromosome Location	chr2:32314131-32314132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10490360	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11124274	0.88[ASN][1000 genomes]
rs11124275	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11124276	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11124277	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11676938	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11678119	0.81[AFR][1000 genomes]
rs11681731	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11683931	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11686061	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11691879	0.81[EUR][1000 genomes]
rs12465124	0.81[ASN][1000 genomes]
rs12474443	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12617289	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12617290	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12620922	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12989936	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12992743	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13000753	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13017189	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13022197	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13024004	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13029752	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13033833	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13431540	0.82[ASN][1000 genomes]
rs17767988	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs212678	0.82[EUR][1000 genomes]
rs212679	0.86[EUR][1000 genomes]
rs212695	0.81[EUR][1000 genomes]
rs212715	0.86[EUR][1000 genomes]
rs212716	0.86[EUR][1000 genomes]
rs212717	0.86[EUR][1000 genomes]
rs212718	0.85[EUR][1000 genomes]
rs212724	0.80[EUR][1000 genomes]
rs212725	0.80[EUR][1000 genomes]
rs212726	0.80[EUR][1000 genomes]
rs212727	0.80[EUR][1000 genomes]
rs212728	0.80[EUR][1000 genomes]
rs212730	0.80[EUR][1000 genomes]
rs212731	0.80[EUR][1000 genomes]
rs212735	0.80[EUR][1000 genomes]
rs212737	0.80[EUR][1000 genomes]
rs212739	0.89[EUR][1000 genomes]
rs212745	0.87[EUR][1000 genomes]
rs212746	0.87[EUR][1000 genomes]
rs212760	0.86[EUR][1000 genomes]
rs216538	0.82[ASN][1000 genomes]
rs216544	0.89[ASN][1000 genomes]
rs2235134	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280967	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280969	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2365555	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2365558	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2566483	0.83[EUR][1000 genomes]
rs34856365	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35650265	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36014814	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs374743	0.81[EUR][1000 genomes]
rs3769603	0.81[AFR][1000 genomes]
rs3769604	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769606	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs408813	0.83[EUR][1000 genomes]
rs428002	0.82[EUR][1000 genomes]
rs443609	0.82[EUR][1000 genomes]
rs454119	0.85[ASN][1000 genomes]
rs455060	0.80[EUR][1000 genomes]
rs466126	0.83[EUR][1000 genomes]
rs467523	0.89[ASN][1000 genomes]
rs469305	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4952247	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4952249	0.90[EUR][1000 genomes]
rs4952250	0.91[EUR][1000 genomes]
rs56740303	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59966205	0.83[EUR][1000 genomes]
rs6543647	0.84[ASN][1000 genomes]
rs6543649	0.90[EUR][1000 genomes]
rs659239	0.83[EUR][1000 genomes]
rs67157050	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6725184	0.82[EUR][1000 genomes]
rs6737500	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6747488	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6748621	0.86[ASN][1000 genomes]
rs6749336	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6752375	0.83[ASN][1000 genomes]
rs6758024	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6760105	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs678251	0.84[ASN][1000 genomes]
rs72862234	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7370704	0.84[ASN][1000 genomes]
rs7559964	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7561519	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7566162	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7573543	0.92[EUR][1000 genomes]
rs7575139	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7577408	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7577696	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7581032	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7581340	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7586448	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7600173	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7600885	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7601267	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7604559	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7605242	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7608127	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7608229	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9677104	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9750659	0.82[ASN][1000 genomes]
rs9752631	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32289600-32330800	Weak transcription	Spleen	Spleen
2	chr2:32289800-32314600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:32289800-32315800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:32289800-32319400	Weak transcription	Aorta	Aorta
5	chr2:32289800-32319400	Weak transcription	Pancreas	Pancrea
6	chr2:32289800-32330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:32290000-32315800	Weak transcription	Fetal Kidney	kidney
8	chr2:32290000-32315800	Weak transcription	HSMM	muscle
9	chr2:32290000-32316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:32290000-32318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:32290200-32330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:32290400-32315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:32290400-32315000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:32290400-32315000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:32290400-32331000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:32290600-32314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:32290600-32330800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:32290800-32317200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:32290800-32330200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:32291000-32314800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:32291000-32330400	Weak transcription	Brain Anterior Caudate	brain
23	chr2:32291000-32330800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:32291000-32332600	Weak transcription	A549	lung
25	chr2:32291400-32327600	Weak transcription	Hela-S3	cervix
26	chr2:32291400-32331000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:32291600-32322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:32291600-32330800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:32291600-32330800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:32291600-32332200	Weak transcription	HUVEC	blood vessel
31	chr2:32292000-32314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:32292000-32330800	Weak transcription	Lung	lung
33	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:32292400-32314800	Weak transcription	Placenta	Placenta
35	chr2:32292400-32330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:32292600-32317600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:32294600-32314200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:32294600-32325000	Weak transcription	Dnd41	blood
40	chr2:32295000-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
42	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:32296800-32321400	Weak transcription	K562	blood
44	chr2:32297600-32314600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:32297600-32360600	Weak transcription	Osteobl	bone
46	chr2:32298800-32315000	Weak transcription	Fetal Lung	lung
47	chr2:32298800-32341400	Weak transcription	Small Intestine	intestine
48	chr2:32299600-32314800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:32299600-32315000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:32300000-32339600	Weak transcription	HepG2	liver

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