Variant report

Variant	rs56030666
Chromosome Location	chr16:75643378-75643379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75636450..75638612-chr16:75642410..75643991,2	K562	blood:

Variant related genes	Relation type
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11556641	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940260	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940348	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940362	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16941287	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941301	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941409	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941516	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942032	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550320	1.00[AMR][1000 genomes]
rs2550889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550897	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550900	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550902	0.86[EUR][1000 genomes]
rs2550903	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550905	0.80[EUR][1000 genomes]
rs2550906	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2550907	0.86[EUR][1000 genomes]
rs2550914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2550915	1.00[EUR][1000 genomes]
rs2641803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650406	0.86[EUR][1000 genomes]
rs2650410	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2650411	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2738800	1.00[AMR][1000 genomes]
rs55714466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55862257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56321575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60919196	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72563121	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73610805	0.86[EUR][1000 genomes]
rs74024796	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs74027409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74027420	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027421	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027425	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027427	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027428	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027431	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74027436	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74027439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74027443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs920037	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription 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 target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers 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	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75625600-75648000	Weak transcription	Fetal Heart	heart
2	chr16:75629000-75650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:75629600-75654800	Strong transcription	Fetal Stomach	stomach
4	chr16:75630600-75654600	Strong transcription	Fetal Intestine Large	intestine
5	chr16:75631000-75649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:75631400-75654600	Strong transcription	Brain Hippocampus Middle	brain
7	chr16:75631400-75654600	Strong transcription	Fetal Muscle Leg	muscle
8	chr16:75631400-75655200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr16:75632600-75654800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:75633000-75654400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:75633000-75654400	Strong transcription	Fetal Thymus	thymus
12	chr16:75633200-75654800	Strong transcription	Liver	Liver
13	chr16:75633400-75653200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr16:75634400-75654600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:75634400-75654800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:75635000-75647200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:75636200-75651200	Strong transcription	Hela-S3	cervix
18	chr16:75636400-75653800	Strong transcription	Placenta	Placenta
19	chr16:75636600-75648600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr16:75636600-75653800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:75636600-75654200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr16:75636600-75654400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:75636600-75654400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr16:75636600-75654800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr16:75636800-75654200	Strong transcription	Fetal Brain Female	brain
26	chr16:75637000-75646000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:75637000-75648800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:75637000-75654400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr16:75637000-75654400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:75637000-75654600	Strong transcription	Primary T cells from cord blood	blood
31	chr16:75637000-75654600	Strong transcription	Fetal Intestine Small	intestine
32	chr16:75637200-75649000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:75637200-75653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:75637200-75654400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:75637400-75654600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:75637400-75654600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr16:75637400-75654800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:75637400-75655200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:75637800-75645800	Weak transcription	Colonic Mucosa	Colon
40	chr16:75637800-75648800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:75637800-75650400	Weak transcription	Fetal Brain Male	brain
42	chr16:75637800-75654800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:75637800-75655200	Weak transcription	Stomach Mucosa	stomach
44	chr16:75638000-75644000	Weak transcription	Aorta	Aorta
45	chr16:75638000-75644400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr16:75638000-75644400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:75638000-75645000	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:75638000-75645400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr16:75638000-75646000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:75638000-75654000	Strong transcription	Dnd41	blood

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