Variant report

Variant	rs60483196
Chromosome Location	chr1:92348552-92348553
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11466552	1.00[ASN][1000 genomes]
rs11466555	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032808	1.00[ASN][1000 genomes]
rs17131587	1.00[ASN][1000 genomes]
rs17131594	1.00[ASN][1000 genomes]
rs17886020	1.00[ASN][1000 genomes]
rs2799519	1.00[ASN][1000 genomes]
rs2799520	1.00[ASN][1000 genomes]
rs3862907	1.00[ASN][1000 genomes]
rs4367824	1.00[ASN][1000 genomes]
rs55813648	1.00[ASN][1000 genomes]
rs57053265	1.00[ASN][1000 genomes]
rs58094327	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58281825	1.00[ASN][1000 genomes]
rs59345962	1.00[ASN][1000 genomes]
rs60765274	1.00[ASN][1000 genomes]
rs61053596	1.00[ASN][1000 genomes]
rs6604065	1.00[ASN][1000 genomes]
rs6604066	1.00[ASN][1000 genomes]
rs6656473	1.00[ASN][1000 genomes]
rs6663157	1.00[ASN][1000 genomes]
rs66687439	1.00[ASN][1000 genomes]
rs6696315	1.00[ASN][1000 genomes]
rs6699466	1.00[ASN][1000 genomes]
rs6700124	1.00[ASN][1000 genomes]
rs6703718	1.00[ASN][1000 genomes]
rs67510747	1.00[ASN][1000 genomes]
rs67577913	1.00[ASN][1000 genomes]
rs72716472	1.00[ASN][1000 genomes]
rs72716484	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74101011	0.95[AFR][1000 genomes]
rs74101025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101047	1.00[ASN][1000 genomes]
rs74101048	1.00[ASN][1000 genomes]
rs74101069	1.00[ASN][1000 genomes]
rs74101079	1.00[ASN][1000 genomes]
rs74101080	1.00[ASN][1000 genomes]
rs74101081	1.00[ASN][1000 genomes]
rs74101089	1.00[ASN][1000 genomes]
rs74101097	1.00[ASN][1000 genomes]
rs7514679	1.00[ASN][1000 genomes]
rs7516778	1.00[ASN][1000 genomes]
rs7540938	1.00[ASN][1000 genomes]
rs7541252	1.00[ASN][1000 genomes]
rs7544958	1.00[ASN][1000 genomes]
rs7545710	1.00[ASN][1000 genomes]
rs877277	1.00[ASN][1000 genomes]
rs883872	1.00[ASN][1000 genomes]
rs883873	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv830581	chr1:92317207-92511175	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92338400-92348600	Weak transcription	Right Atrium	heart
2	chr1:92338600-92348800	Weak transcription	Stomach Mucosa	stomach
3	chr1:92338600-92349600	Weak transcription	Pancreas	Pancrea
4	chr1:92338600-92350000	Weak transcription	Esophagus	oesophagus
5	chr1:92338600-92350000	Weak transcription	Left Ventricle	heart
6	chr1:92338800-92350000	Weak transcription	K562	blood
7	chr1:92340000-92349200	Weak transcription	Lung	lung
8	chr1:92341800-92348600	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:92342000-92348800	Weak transcription	Right Ventricle	heart
10	chr1:92342200-92348600	Weak transcription	NHLF	lung
11	chr1:92342400-92348800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:92343400-92348800	Weak transcription	Liver	Liver
13	chr1:92343800-92348800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:92344000-92348600	Weak transcription	Osteobl	bone
15	chr1:92344200-92348800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:92344200-92349000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:92344400-92348800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:92344600-92348600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:92344600-92349200	Weak transcription	NHEK	skin
20	chr1:92344600-92349400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:92344600-92349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:92344800-92349000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:92345000-92348600	Weak transcription	A549	lung
24	chr1:92345200-92349000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:92345200-92349200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:92345600-92349200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:92345800-92348800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:92346400-92348600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:92346400-92352400	Active TSS	Ovary	ovary
30	chr1:92347000-92348800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:92347000-92348800	Weak transcription	Hela-S3	cervix
32	chr1:92347000-92350000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:92347000-92350000	Weak transcription	GM12878-XiMat	blood
34	chr1:92347200-92348600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:92347200-92348600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:92347200-92348800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:92347200-92349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:92347400-92348600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:92347400-92348600	Weak transcription	Fetal Stomach	stomach
40	chr1:92347400-92349400	Weak transcription	Brain Anterior Caudate	brain
41	chr1:92347400-92350000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:92347400-92350200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:92347800-92348800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:92348000-92348600	Weak transcription	Psoas Muscle	Psoas
45	chr1:92348000-92348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:92348000-92349000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:92348200-92348600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:92348200-92348600	Weak transcription	Placenta	Placenta
49	chr1:92348200-92348600	Flanking Active TSS	HepG2	liver
50	chr1:92348400-92348600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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