Variant report

Variant	rs2046297
Chromosome Location	chr1:92583738-92583739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11166022	1.00[EUR][1000 genomes]
rs11166028	1.00[EUR][1000 genomes]
rs11166030	1.00[EUR][1000 genomes]
rs11166044	1.00[EUR][1000 genomes]
rs11166045	1.00[EUR][1000 genomes]
rs11166066	1.00[EUR][1000 genomes]
rs11166068	1.00[EUR][1000 genomes]
rs11166107	1.00[EUR][1000 genomes]
rs11166118	1.00[EUR][1000 genomes]
rs11166189	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11166200	1.00[EUR][1000 genomes]
rs11166203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11166390	1.00[EUR][1000 genomes]
rs11166543	1.00[EUR][1000 genomes]
rs12057625	1.00[EUR][1000 genomes]
rs12058147	1.00[EUR][1000 genomes]
rs12059439	1.00[EUR][1000 genomes]
rs12059645	1.00[EUR][1000 genomes]
rs12061480	1.00[EUR][1000 genomes]
rs12061953	0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12063404	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12064015	1.00[EUR][1000 genomes]
rs12065163	1.00[EUR][1000 genomes]
rs12065626	1.00[EUR][1000 genomes]
rs12065694	1.00[EUR][1000 genomes]
rs12066980	1.00[EUR][1000 genomes]
rs12067302	1.00[EUR][1000 genomes]
rs12069690	1.00[EUR][1000 genomes]
rs12070249	1.00[EUR][1000 genomes]
rs12071088	1.00[EUR][1000 genomes]
rs12073274	0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12074384	1.00[EUR][1000 genomes]
rs12076399	1.00[EUR][1000 genomes]
rs12078738	1.00[EUR][1000 genomes]
rs12080119	1.00[EUR][1000 genomes]
rs12080220	1.00[EUR][1000 genomes]
rs12080525	1.00[EUR][1000 genomes]
rs12085789	1.00[EUR][1000 genomes]
rs12086354	1.00[EUR][1000 genomes]
rs12086426	1.00[EUR][1000 genomes]
rs12087282	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088549	1.00[EUR][1000 genomes]
rs12089666	1.00[EUR][1000 genomes]
rs12090217	1.00[EUR][1000 genomes]
rs12091427	1.00[EUR][1000 genomes]
rs12093038	1.00[EUR][1000 genomes]
rs12093590	1.00[EUR][1000 genomes]
rs12093905	1.00[EUR][1000 genomes]
rs12095429	1.00[EUR][1000 genomes]
rs12096979	1.00[EUR][1000 genomes]
rs12097184	1.00[EUR][1000 genomes]
rs1483020	1.00[EUR][1000 genomes]
rs1483021	0.93[LWK][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1487538	1.00[EUR][1000 genomes]
rs17131601	1.00[EUR][1000 genomes]
rs17131604	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17131606	1.00[EUR][1000 genomes]
rs17131614	1.00[EUR][1000 genomes]
rs17131625	1.00[EUR][1000 genomes]
rs17131626	1.00[EUR][1000 genomes]
rs2170644	1.00[EUR][1000 genomes]
rs35166258	1.00[EUR][1000 genomes]
rs35428675	1.00[EUR][1000 genomes]
rs57820459	1.00[EUR][1000 genomes]
rs59366523	1.00[EUR][1000 genomes]
rs6657876	1.00[EUR][1000 genomes]
rs6679077	1.00[EUR][1000 genomes]
rs72956818	1.00[EUR][1000 genomes]
rs72956832	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956833	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956874	1.00[EUR][1000 genomes]
rs72956893	1.00[EUR][1000 genomes]
rs72958765	1.00[EUR][1000 genomes]
rs72958768	1.00[EUR][1000 genomes]
rs72958786	1.00[EUR][1000 genomes]
rs72958791	1.00[EUR][1000 genomes]
rs72960809	1.00[EUR][1000 genomes]
rs72960813	1.00[EUR][1000 genomes]
rs72960817	1.00[EUR][1000 genomes]
rs72960824	1.00[EUR][1000 genomes]
rs7512045	1.00[EUR][1000 genomes]
rs7552286	1.00[EUR][1000 genomes]
rs9660398	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv871144	chr1:92380302-92641607	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv1009079	chr1:92525630-92595669	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv546821	chr1:92525678-92650349	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
24	nsv870471	chr1:92568263-92604114	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv871948	chr1:92574745-92607997	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3452381	chr1:92579071-92585148	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
27	esv3452380	chr1:92579087-92585131	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
28	esv3452379	chr1:92579096-92585168	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
29	esv3452382	chr1:92579199-92585022	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
30	nsv441700	chr1:92579244-92584515	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
31	esv1850566	chr1:92579244-92584519	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
32	esv2762159	chr1:92579244-92586079	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
33	nsv946074	chr1:92580215-92588466	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92552200-92583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:92552400-92586000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:92552400-92595200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:92552600-92590000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:92552600-92591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:92552600-92613400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:92552800-92613600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:92555200-92620400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:92556000-92613600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:92556600-92613400	Weak transcription	Fetal Brain Female	brain
11	chr1:92557400-92598000	Weak transcription	Spleen	Spleen
12	chr1:92558000-92604000	Weak transcription	Left Ventricle	heart
13	chr1:92560000-92613600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:92560600-92590800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:92561200-92619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:92561600-92590000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
18	chr1:92567400-92618000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:92568200-92616400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:92569400-92595600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:92569800-92613600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:92570000-92619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:92570400-92589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:92570800-92594800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:92571800-92601600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:92571800-92613400	Weak transcription	Dnd41	blood
27	chr1:92572000-92613400	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:92574000-92613400	Weak transcription	Fetal Lung	lung
29	chr1:92576200-92595800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:92580800-92590800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:92580800-92595200	Weak transcription	Ovary	ovary
32	chr1:92580800-92615200	Weak transcription	Lung	lung
33	chr1:92580800-92619000	Weak transcription	Pancreas	Pancrea
34	chr1:92581000-92590800	Weak transcription	Aorta	Aorta
35	chr1:92581400-92597200	Weak transcription	Fetal Intestine Small	intestine
36	chr1:92581400-92613600	Weak transcription	Liver	Liver
37	chr1:92583000-92583800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:92583000-92584200	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:92583000-92584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:92583000-92584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:92583000-92584400	Enhancers	Primary T cells from cord blood	blood
42	chr1:92583200-92583800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:92583200-92583800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:92583200-92584200	Enhancers	Primary T helper cells PMA-I stimulated	--

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