Variant report

Variant	rs73923888
Chromosome Location	chr2:39597987-39597988
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	chr2:39596692..39599194-chr2:39603552..39605779,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10199948	1.00[EUR][1000 genomes]
rs10490305	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11886110	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11886434	0.87[AFR][1000 genomes]
rs11888511	0.89[EUR][1000 genomes]
rs11895366	0.92[AFR][1000 genomes]
rs11898025	0.89[EUR][1000 genomes]
rs11898704	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11902188	0.98[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17023405	0.89[EUR][1000 genomes]
rs17023552	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17023573	0.89[EUR][1000 genomes]
rs17023584	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17023620	0.84[AFR][1000 genomes]
rs17038958	0.83[ASN][1000 genomes]
rs2708227	0.84[EUR][1000 genomes]
rs3770661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55750780	0.81[AFR][1000 genomes]
rs55797011	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55961227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56024079	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56361338	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56850142	0.91[ASN][1000 genomes]
rs56928728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57084694	0.85[AFR][1000 genomes]
rs57271382	0.89[EUR][1000 genomes]
rs58005382	0.91[ASN][1000 genomes]
rs58824151	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs59121834	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59459399	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs59707152	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59896787	0.85[AFR][1000 genomes]
rs60394429	0.95[AFR][1000 genomes]
rs61219633	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61257289	0.89[EUR][1000 genomes]
rs6544206	0.89[EUR][1000 genomes]
rs6544225	0.97[AFR][1000 genomes]
rs6712399	0.98[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6718000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6723987	0.92[AFR][1000 genomes]
rs6725784	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6727395	0.98[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6731330	0.89[EUR][1000 genomes]
rs6751506	0.98[AFR][1000 genomes]
rs6755534	1.00[EUR][1000 genomes]
rs72921023	0.89[EUR][1000 genomes]
rs72927494	0.89[EUR][1000 genomes]
rs73923836	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923842	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73923844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73923847	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73923887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923889	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73923895	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924011	0.84[AFR][1000 genomes]
rs73924013	0.84[AFR][1000 genomes]
rs73924016	0.85[AFR][1000 genomes]
rs73924810	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73924815	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924816	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924817	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924818	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73930526	0.89[EUR][1000 genomes]
rs73930538	0.89[EUR][1000 genomes]
rs7565210	0.92[AFR][1000 genomes]
rs7569943	0.89[EUR][1000 genomes]
rs7588265	1.00[EUR][1000 genomes]
rs7591563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7595047	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595102	0.89[EUR][1000 genomes]
rs7596222	1.00[EUR][1000 genomes]
rs7599017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39584400-39598400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:39584400-39604600	Weak transcription	Right Ventricle	heart
3	chr2:39587000-39608800	Weak transcription	Pancreas	Pancrea
4	chr2:39587200-39604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:39587800-39604800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:39588000-39607800	Weak transcription	Ovary	ovary
7	chr2:39588000-39608800	Weak transcription	Lung	lung
8	chr2:39588000-39609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
10	chr2:39588200-39599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:39588200-39602800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:39588200-39603000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:39588400-39603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:39588600-39599400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:39590000-39604800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:39590200-39598200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:39590200-39598400	Weak transcription	Fetal Lung	lung
18	chr2:39590200-39599800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:39590200-39602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:39590200-39602800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:39590200-39604800	Weak transcription	HSMMtube	muscle
22	chr2:39590400-39598200	Weak transcription	Primary B cells from cord blood	blood
23	chr2:39590400-39599800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:39590400-39600400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:39590400-39602400	Weak transcription	Liver	Liver
26	chr2:39590600-39598200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:39590600-39598200	Weak transcription	HSMM	muscle
28	chr2:39590600-39598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:39590600-39598600	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:39590600-39601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:39590600-39601200	Weak transcription	Fetal Stomach	stomach
32	chr2:39590600-39602200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:39591000-39602000	Weak transcription	Fetal Thymus	thymus
34	chr2:39591800-39602200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:39591800-39604600	Weak transcription	NH-A	brain
36	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:39592000-39606800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:39592200-39599800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:39592400-39599800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:39592400-39600200	Weak transcription	A549	lung
41	chr2:39592400-39604600	Weak transcription	Fetal Heart	heart
42	chr2:39592600-39607000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:39593400-39603200	Weak transcription	K562	blood
45	chr2:39593800-39598000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:39593800-39598200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:39593800-39602800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:39594000-39600800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:39594600-39599600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:39594600-39608800	Weak transcription	Left Ventricle	heart

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