Variant report

Variant	rs284146
Chromosome Location	chr1:92279583-92279584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92085074..92086910-chr1:92278209..92279900,2	K562	blood:
2	chr1:92274050..92276390-chr1:92277677..92279989,2	K562	blood:
3	chr1:92259196..92261708-chr1:92278967..92281416,2	K562	blood:
4	chr1:92274046..92275550-chr1:92277677..92280459,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1032255	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10874980	0.89[ASN][1000 genomes]
rs11165578	0.86[ASN][1000 genomes]
rs11799400	0.84[EUR][1000 genomes]
rs12027931	0.84[EUR][1000 genomes]
rs1352438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805109	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1805110	0.85[EUR][1000 genomes]
rs1906586	0.85[EUR][1000 genomes]
rs2046737	0.85[EUR][1000 genomes]
rs2087300	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129972	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2129973	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265863	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2391070	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450926	0.83[EUR][1000 genomes]
rs2450927	0.85[EUR][1000 genomes]
rs2489169	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2489170	0.85[EUR][1000 genomes]
rs2489171	0.85[EUR][1000 genomes]
rs2489176	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489184	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489185	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2489186	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489192	0.85[EUR][1000 genomes]
rs2634019	0.85[EUR][1000 genomes]
rs2634020	0.82[EUR][1000 genomes]
rs2634022	0.85[EUR][1000 genomes]
rs2634023	0.85[EUR][1000 genomes]
rs2634024	0.85[EUR][1000 genomes]
rs2634025	0.85[EUR][1000 genomes]
rs2634026	0.85[EUR][1000 genomes]
rs2634027	0.85[EUR][1000 genomes]
rs2634028	0.85[EUR][1000 genomes]
rs2634029	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634030	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634032	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2634033	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2634034	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2634036	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799512	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799514	0.85[EUR][1000 genomes]
rs2799515	0.85[EUR][1000 genomes]
rs2799516	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799517	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799521	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2799522	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2799523	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799524	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799525	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799539	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799547	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2810903	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284141	0.84[EUR][1000 genomes]
rs284148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284150	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284151	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284156	0.87[ASN][1000 genomes]
rs284157	0.87[ASN][1000 genomes]
rs284160	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284161	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284162	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284163	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284164	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3103332	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3103333	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs449960	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717923	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550856	0.84[EUR][1000 genomes]
rs901913	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901917	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92264800-92284200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:92272200-92282600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:92272400-92285400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:92273400-92281000	Weak transcription	Aorta	Aorta
5	chr1:92273400-92281000	Weak transcription	Fetal Kidney	kidney
6	chr1:92273400-92281000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:92275200-92284200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:92275400-92283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:92275600-92279600	Weak transcription	Fetal Heart	heart
10	chr1:92275600-92281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:92275600-92283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:92275600-92292000	Weak transcription	Lung	lung
13	chr1:92275800-92281400	Weak transcription	Fetal Stomach	stomach
14	chr1:92276000-92284000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:92276400-92281400	Weak transcription	NHDF-Ad	bronchial
16	chr1:92276400-92285000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:92277000-92280200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:92277400-92291800	Enhancers	HepG2	liver
19	chr1:92277600-92281600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:92277800-92279800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:92277800-92281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:92277800-92282600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:92277800-92283000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:92277800-92283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:92277800-92283200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:92277800-92286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:92278000-92279600	Weak transcription	Fetal Lung	lung
28	chr1:92278000-92280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:92278000-92281200	Weak transcription	Brain Anterior Caudate	brain
30	chr1:92278000-92282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:92278000-92283200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:92278000-92285200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:92278400-92280000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:92278800-92281600	Enhancers	HUVEC	blood vessel
35	chr1:92278800-92288200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:92279000-92279600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:92279000-92279600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:92279000-92279800	Enhancers	Right Atrium	heart
39	chr1:92279200-92279600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:92279200-92279600	Enhancers	Esophagus	oesophagus
41	chr1:92279200-92279600	Enhancers	Fetal Muscle Trunk	muscle
42	chr1:92279200-92279600	Enhancers	Placenta	Placenta
43	chr1:92279200-92279600	Enhancers	Left Ventricle	heart
44	chr1:92279200-92279600	Enhancers	Psoas Muscle	Psoas
45	chr1:92279200-92279600	Enhancers	Right Ventricle	heart
46	chr1:92279200-92279600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:92279200-92279600	Enhancers	Spleen	Spleen
48	chr1:92279200-92279800	Enhancers	Adipose Nuclei	Adipose
49	chr1:92279200-92279800	Enhancers	Stomach Smooth Muscle	stomach
50	chr1:92279200-92280000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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