Variant report

Variant	rs73923853
Chromosome Location	chr2:39583996-39583997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39569119..39570627-chr2:39583431..39586281,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11893648	1.00[AMR][1000 genomes]
rs11897610	1.00[AMR][1000 genomes]
rs17023735	1.00[AMR][1000 genomes]
rs17023743	1.00[AMR][1000 genomes]
rs17023815	1.00[AMR][1000 genomes]
rs55737728	1.00[AMR][1000 genomes]
rs55802549	1.00[AMR][1000 genomes]
rs55962203	1.00[AMR][1000 genomes]
rs56327620	1.00[AMR][1000 genomes]
rs56962434	1.00[AMR][1000 genomes]
rs57765159	1.00[AMR][1000 genomes]
rs58899133	1.00[AMR][1000 genomes]
rs6544219	1.00[AMR][1000 genomes]
rs6748834	1.00[AMR][1000 genomes]
rs6750130	1.00[AMR][1000 genomes]
rs6761146	1.00[AMR][1000 genomes]
rs73923850	1.00[AMR][1000 genomes]
rs73923852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924007	1.00[AMR][1000 genomes]
rs73924017	1.00[AMR][1000 genomes]
rs7573036	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv1806203	chr2:39570427-39588797	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39520000-39586200	Weak transcription	Fetal Kidney	kidney
2	chr2:39534000-39586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:39539000-39586400	Weak transcription	Pancreas	Pancrea
4	chr2:39541000-39586400	Weak transcription	Lung	lung
5	chr2:39545400-39585800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:39554600-39586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:39556400-39585000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:39557000-39586800	Weak transcription	Aorta	Aorta
9	chr2:39557200-39586000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:39558600-39584000	Weak transcription	Ovary	ovary
11	chr2:39558800-39586600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:39559000-39586400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:39559600-39586200	Weak transcription	Liver	Liver
14	chr2:39562200-39584000	Weak transcription	Right Ventricle	heart
15	chr2:39562400-39586600	Weak transcription	NHLF	lung
16	chr2:39562600-39586000	Weak transcription	Fetal Lung	lung
17	chr2:39563000-39586000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:39563400-39585800	Weak transcription	Dnd41	blood
19	chr2:39569600-39586200	Weak transcription	HMEC	breast
20	chr2:39571400-39586200	Weak transcription	NH-A	brain
21	chr2:39571600-39585000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:39572200-39586000	Weak transcription	A549	lung
23	chr2:39572200-39597600	Weak transcription	Osteobl	bone
24	chr2:39572800-39586000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:39574200-39584200	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:39574200-39586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:39575600-39586400	Weak transcription	Gastric	stomach
28	chr2:39576600-39586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:39577400-39584000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:39577400-39585600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:39577800-39586000	Weak transcription	Esophagus	oesophagus
32	chr2:39579000-39584000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:39579200-39586400	Weak transcription	Fetal Thymus	thymus
34	chr2:39579200-39587600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:39579600-39584400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:39579800-39584200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:39580000-39584000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:39580400-39586600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:39580600-39586200	Weak transcription	NHEK	skin
40	chr2:39580800-39585400	Strong transcription	HSMM	muscle
41	chr2:39582200-39585600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:39582200-39586200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:39582400-39585200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:39582400-39586000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:39582400-39586200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:39582400-39586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:39582400-39586400	Weak transcription	Fetal Intestine Large	intestine
48	chr2:39582600-39584000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:39582600-39584000	Weak transcription	Psoas Muscle	Psoas
50	chr2:39582600-39585800	Weak transcription	Fetal Muscle Leg	muscle

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