Variant report

Variant	rs72925283
Chromosome Location	chr2:39561788-39561789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39556941..39559571-chr2:39560724..39563297,3	K562	blood:
2	chr2:39560253..39562366-chr2:39574869..39577046,2	K562	blood:
3	chr2:39554819..39557461-chr2:39561282..39564126,2	K562	blood:
4	chr2:39556058..39558190-chr2:39561076..39562731,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12105018	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17023400	0.83[AMR][1000 genomes]
rs57107827	0.92[AMR][1000 genomes]
rs57164521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58019817	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706951	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721740	0.81[AFR][1000 genomes]
rs6722096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6725496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6725704	0.92[AMR][1000 genomes]
rs6732290	0.86[AFR][1000 genomes]
rs6759388	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72914206	0.92[AMR][1000 genomes]
rs72925244	0.87[AFR][1000 genomes]
rs72925249	0.91[AFR][1000 genomes]
rs72925250	0.91[AFR][1000 genomes]
rs72925252	0.91[AFR][1000 genomes]
rs72925278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927108	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927123	0.85[AMR][1000 genomes]
rs72927143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929164	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72929184	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931129	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931131	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931135	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931145	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs72931150	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931159	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931172	0.92[AMR][1000 genomes]
rs7566368	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7581123	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7585411	0.83[AMR][1000 genomes]
rs7589593	0.88[AFR][1000 genomes]
rs7592925	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7609233	0.83[AFR][1000 genomes];0.91[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:97 , 50 per page) page: 1 2

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	chr2:39505400-39562400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:39517600-39566400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:39519800-39562200	Weak transcription	K562	blood
9	chr2:39519800-39583000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:39520000-39586200	Weak transcription	Fetal Kidney	kidney
11	chr2:39520400-39565800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:39524000-39583600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:39528200-39562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:39528400-39562800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:39528800-39581800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:39534000-39586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:39535400-39562600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:39537200-39563800	Weak transcription	Spleen	Spleen
19	chr2:39538800-39572000	Weak transcription	Small Intestine	intestine
20	chr2:39539000-39563000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:39539000-39583800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:39539000-39586400	Weak transcription	Pancreas	Pancrea
23	chr2:39541000-39586400	Weak transcription	Lung	lung
24	chr2:39541400-39582200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:39542000-39562200	Weak transcription	Fetal Brain Male	brain
26	chr2:39542200-39565600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:39543000-39569400	Weak transcription	HUVEC	blood vessel
28	chr2:39545400-39585800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:39548200-39562200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:39552000-39563000	Strong transcription	HepG2	liver
31	chr2:39552600-39562000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:39552600-39562200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:39553800-39562800	Strong transcription	HSMM	muscle
34	chr2:39553800-39569000	Weak transcription	HMEC	breast
35	chr2:39554000-39571000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:39554200-39562000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:39554400-39562000	Weak transcription	GM12878-XiMat	blood
38	chr2:39554600-39586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:39554800-39562800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:39554800-39563000	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:39555400-39566600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:39555400-39581200	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:39555400-39581200	Weak transcription	Fetal Stomach	stomach
44	chr2:39555600-39581400	Weak transcription	Fetal Intestine Small	intestine
45	chr2:39555600-39582200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:39556000-39581600	Weak transcription	Placenta	Placenta
47	chr2:39556200-39562400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:39556200-39562600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:39556200-39582400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:39556400-39585000	Weak transcription	Primary B cells from cord blood	blood

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