Variant report

Variant	rs2024514
Chromosome Location	chr2:39554376-39554377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1012689	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10175094	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10185961	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10193807	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10196407	0.84[CHB][hapmap]
rs10865148	0.92[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10865151	0.92[AMR][1000 genomes]
rs11124671	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11124674	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11124675	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11124678	0.88[AMR][1000 genomes]
rs11124680	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs11677383	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11688033	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11688352	0.85[ASN][1000 genomes]
rs11689327	0.81[AMR][1000 genomes]
rs11692422	0.81[ASN][1000 genomes]
rs11695072	0.85[CHD][hapmap];0.88[JPT][hapmap]
rs12151392	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12162306	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12617901	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap]
rs12618944	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12624242	0.97[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.89[MKK][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712633	0.82[GIH][hapmap]
rs12712634	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12712640	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12712642	0.80[AMR][1000 genomes]
rs12997072	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13405577	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13425432	0.82[JPT][hapmap]
rs1861733	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1861734	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2058863	0.81[AMR][1000 genomes]
rs2302749	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2373528	0.82[EUR][1000 genomes]
rs2888593	0.82[EUR][1000 genomes]
rs3732053	0.88[AMR][1000 genomes]
rs3755171	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3755172	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3755176	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770662	0.86[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs3770663	0.81[MEX][hapmap];0.81[AMR][1000 genomes]
rs3770664	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3770671	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3770672	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3770673	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3770674	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3815594	0.81[MEX][hapmap]
rs4488638	0.82[EUR][1000 genomes]
rs4630750	0.81[AMR][1000 genomes]
rs6544214	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6544215	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6544216	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6709424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6714566	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6719469	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6743345	0.84[CHB][hapmap]
rs6753014	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7340455	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7421175	0.85[AMR][1000 genomes]
rs7425616	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7561630	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7569037	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7569492	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7573923	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7581692	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7582848	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7594145	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7595469	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7597300	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7598583	0.83[CHD][hapmap];0.88[JPT][hapmap]
rs7605427	0.83[ASN][1000 genomes]
rs7608958	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9037	1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9309036	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9309037	0.92[CEU][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9309038	0.81[AMR][1000 genomes]
rs9309039	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv1830024	chr2:39440552-39588797	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv873886	chr2:39468676-39573521	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	esv1809158	chr2:39474679-39588797	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv1828851	chr2:39508121-39588797	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv873888	chr2:39508830-39573521	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv2762497	chr2:39540753-39566724	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39481000-39580200	Weak transcription	NHEK	skin
2	chr2:39493600-39565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:39504600-39562000	Weak transcription	Psoas Muscle	Psoas
4	chr2:39504800-39565800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:39504800-39567200	Weak transcription	Hela-S3	cervix
6	chr2:39505400-39556800	Weak transcription	Thymus	Thymus
7	chr2:39505400-39557200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:39505400-39562400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:39513600-39555000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:39516200-39557600	Weak transcription	Gastric	stomach
11	chr2:39517600-39566400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:39519000-39555200	Weak transcription	Fetal Thymus	thymus
13	chr2:39519800-39555400	Weak transcription	Fetal Heart	heart
14	chr2:39519800-39562200	Weak transcription	K562	blood
15	chr2:39519800-39583000	Weak transcription	Brain Angular Gyrus	brain
16	chr2:39520000-39556600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:39520000-39586200	Weak transcription	Fetal Kidney	kidney
18	chr2:39520200-39555200	Weak transcription	Ovary	ovary
19	chr2:39520400-39565800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:39524000-39583600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:39528200-39562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:39528400-39562800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:39528800-39581800	Weak transcription	Brain Germinal Matrix	brain
24	chr2:39531000-39561600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:39533600-39555000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:39534000-39586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:39535400-39562600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:39536000-39560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:39537200-39563800	Weak transcription	Spleen	Spleen
30	chr2:39537400-39558200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:39537600-39556800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:39538800-39572000	Weak transcription	Small Intestine	intestine
33	chr2:39539000-39554800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:39539000-39563000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:39539000-39583800	Weak transcription	Brain Anterior Caudate	brain
36	chr2:39539000-39586400	Weak transcription	Pancreas	Pancrea
37	chr2:39540400-39557200	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:39540400-39560400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:39540400-39561400	Weak transcription	Fetal Brain Female	brain
40	chr2:39541000-39586400	Weak transcription	Lung	lung
41	chr2:39541400-39557200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:39541400-39582200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:39541600-39555200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:39542000-39562200	Weak transcription	Fetal Brain Male	brain
45	chr2:39542200-39554800	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:39542200-39554800	Weak transcription	NHLF	lung
47	chr2:39542200-39555000	Weak transcription	Primary T cells from cord blood	blood
48	chr2:39542200-39555000	Weak transcription	Right Ventricle	heart
49	chr2:39542200-39555000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:39542200-39555000	Weak transcription	A549	lung

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