Variant report

Variant	rs62016942
Chromosome Location	chr15:50720753-50720754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50644978..50654282-chr15:50714279..50723145,48	MCF-7	breast:
2	chr15:50720690..50723603-chr15:50729402..50731904,2	K562	blood:
3	chr15:50720179..50722555-chr15:50725678..50727249,2	K562	blood:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000264109	Chromatin interaction
ENSG00000259715	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519276	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519278	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070774	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070775	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070780	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070781	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070785	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070786	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070787	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070788	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11630309	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11631351	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11631398	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632697	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632708	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11632823	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633608	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11633624	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11633765	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11634832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637031	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11637104	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638198	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11638390	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12439248	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12440152	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17519466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17519536	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597852	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17597915	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17598061	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2414044	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414045	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34659874	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4380013	0.84[EUR][1000 genomes]
rs4774569	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775889	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016938	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016939	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016940	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016944	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016945	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016947	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019074	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62019075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019078	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62019079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019084	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019085	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019087	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019112	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019113	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62019115	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62019116	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62019117	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7165464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168783	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169778	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7170114	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7181536	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7182569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182980	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7494907	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8030373	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8037446	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037553	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs934636	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717000-50726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:50717400-50722600	Weak transcription	Esophagus	oesophagus
3	chr15:50717400-50722600	Weak transcription	Lung	lung
4	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
5	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
7	chr15:50717800-50721000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:50717800-50723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:50717800-50724200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:50717800-50724200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:50717800-50724600	Weak transcription	NH-A	brain
12	chr15:50717800-50731200	Weak transcription	Fetal Brain Female	brain
13	chr15:50717800-50731200	Weak transcription	Fetal Kidney	kidney
14	chr15:50717800-50731600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:50717800-50731600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:50717800-50732000	Weak transcription	Small Intestine	intestine
17	chr15:50717800-50732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:50717800-50732200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:50717800-50732200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:50717800-50732200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:50717800-50732200	Weak transcription	HSMMtube	muscle
22	chr15:50717800-50732200	Weak transcription	NHLF	lung
23	chr15:50717800-50732400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:50717800-50738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:50718000-50721000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:50718000-50722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:50718000-50723200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:50718000-50724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:50718000-50724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:50718000-50724400	Weak transcription	NHEK	skin
32	chr15:50718000-50731200	Weak transcription	Brain Anterior Caudate	brain
33	chr15:50718000-50732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:50718000-50734600	Weak transcription	Brain Substantia Nigra	brain
35	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:50718200-50724400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:50718200-50724400	Weak transcription	Thymus	Thymus
39	chr15:50718200-50730800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:50718200-50731400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:50718200-50731400	Weak transcription	Fetal Thymus	thymus
42	chr15:50718200-50731600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:50718200-50731600	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:50718200-50732200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:50718400-50724400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr15:50718400-50724400	Weak transcription	Placenta	Placenta
47	chr15:50718400-50724600	Weak transcription	Fetal Lung	lung
48	chr15:50718400-50740400	Weak transcription	Fetal Heart	heart
49	chr15:50718800-50720800	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:50718800-50721200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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