Variant report

Variant	rs59966044
Chromosome Location	chr16:48412258-48412259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48406174..48409195-chr16:48411058..48414705,6	K562	blood:
2	chr16:48411112..48415935-chr16:48417584..48420654,6	MCF-7	breast:
3	chr16:48411748..48415998-chr16:48416243..48420831,11	K562	blood:
4	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 211 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:200)

rs_ID	r²[population]
rs13330237	1.00[AMR][1000 genomes]
rs13339188	1.00[AMR][1000 genomes]
rs16946016	1.00[AMR][1000 genomes]
rs16946018	1.00[AMR][1000 genomes]
rs16946020	1.00[AMR][1000 genomes]
rs16946022	1.00[AMR][1000 genomes]
rs16946024	1.00[AMR][1000 genomes]
rs16946028	1.00[AMR][1000 genomes]
rs16946031	1.00[AMR][1000 genomes]
rs16946033	1.00[AMR][1000 genomes]
rs16946035	1.00[AMR][1000 genomes]
rs16946042	1.00[AMR][1000 genomes]
rs16946044	1.00[AMR][1000 genomes]
rs16946046	1.00[AMR][1000 genomes]
rs16946047	1.00[AMR][1000 genomes]
rs16946049	1.00[AMR][1000 genomes]
rs16946050	1.00[AMR][1000 genomes]
rs16946055	1.00[AMR][1000 genomes]
rs16946056	1.00[AMR][1000 genomes]
rs16946077	1.00[AMR][1000 genomes]
rs16946084	1.00[AMR][1000 genomes]
rs16946088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946097	1.00[AMR][1000 genomes]
rs16946106	1.00[AMR][1000 genomes]
rs16946113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946118	1.00[AMR][1000 genomes]
rs16946120	1.00[AMR][1000 genomes]
rs16946145	1.00[AMR][1000 genomes]
rs16946162	1.00[AMR][1000 genomes]
rs16946199	1.00[AMR][1000 genomes]
rs2046528	1.00[AMR][1000 genomes]
rs2046529	1.00[AMR][1000 genomes]
rs2046530	1.00[AMR][1000 genomes]
rs2160564	1.00[AMR][1000 genomes]
rs2353650	1.00[AMR][1000 genomes]
rs28387003	1.00[AMR][1000 genomes]
rs28407298	1.00[AMR][1000 genomes]
rs28699264	1.00[AMR][1000 genomes]
rs28722105	1.00[AMR][1000 genomes]
rs34437640	1.00[AMR][1000 genomes]
rs35730749	1.00[AMR][1000 genomes]
rs4583238	1.00[AMR][1000 genomes]
rs4619404	1.00[AMR][1000 genomes]
rs55650659	1.00[AMR][1000 genomes]
rs55650780	1.00[AMR][1000 genomes]
rs55727534	1.00[AMR][1000 genomes]
rs55759468	1.00[AMR][1000 genomes]
rs55767683	1.00[AMR][1000 genomes]
rs55791428	1.00[AMR][1000 genomes]
rs55894153	1.00[AMR][1000 genomes]
rs55939380	1.00[AMR][1000 genomes]
rs55945004	1.00[AMR][1000 genomes]
rs56006148	1.00[AMR][1000 genomes]
rs56039807	1.00[AMR][1000 genomes]
rs56056936	1.00[AMR][1000 genomes]
rs56068904	1.00[AMR][1000 genomes]
rs56153325	1.00[AMR][1000 genomes]
rs56183549	1.00[AMR][1000 genomes]
rs56210528	1.00[AMR][1000 genomes]
rs56252717	1.00[AMR][1000 genomes]
rs56270052	1.00[AMR][1000 genomes]
rs56379814	1.00[AMR][1000 genomes]
rs56403551	1.00[AMR][1000 genomes]
rs56739366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57031394	1.00[AMR][1000 genomes]
rs57045758	1.00[AMR][1000 genomes]
rs57276104	1.00[AMR][1000 genomes]
rs57435271	1.00[AMR][1000 genomes]
rs57646139	1.00[AMR][1000 genomes]
rs57760532	1.00[AMR][1000 genomes]
rs57815195	1.00[AMR][1000 genomes]
rs57850865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57858756	1.00[AMR][1000 genomes]
rs58068024	1.00[AMR][1000 genomes]
rs58095119	1.00[AMR][1000 genomes]
rs58315149	1.00[AMR][1000 genomes]
rs58405777	1.00[AMR][1000 genomes]
rs58531648	1.00[AMR][1000 genomes]
rs58909828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58952249	1.00[AMR][1000 genomes]
rs59077393	1.00[AMR][1000 genomes]
rs59103644	1.00[AMR][1000 genomes]
rs59174783	1.00[AMR][1000 genomes]
rs59247940	1.00[AMR][1000 genomes]
rs59295735	1.00[AMR][1000 genomes]
rs59382226	1.00[AMR][1000 genomes]
rs59893238	1.00[AMR][1000 genomes]
rs60162759	1.00[AMR][1000 genomes]
rs60230358	1.00[AMR][1000 genomes]
rs60461572	1.00[AMR][1000 genomes]
rs60494112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60659794	1.00[AMR][1000 genomes]
rs60731420	1.00[AMR][1000 genomes]
rs60791230	1.00[AMR][1000 genomes]
rs60944057	1.00[AMR][1000 genomes]
rs60962209	1.00[AMR][1000 genomes]
rs60983423	1.00[AMR][1000 genomes]
rs61055548	1.00[AMR][1000 genomes]
rs61173366	1.00[AMR][1000 genomes]
rs61238817	1.00[AMR][1000 genomes]
rs61528456	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016321	1.00[AMR][1000 genomes]
rs74016322	1.00[AMR][1000 genomes]
rs74016323	1.00[AMR][1000 genomes]
rs74016324	1.00[AMR][1000 genomes]
rs74016326	1.00[AMR][1000 genomes]
rs74016331	1.00[AMR][1000 genomes]
rs74016333	1.00[AMR][1000 genomes]
rs74016334	1.00[AMR][1000 genomes]
rs74016335	1.00[AMR][1000 genomes]
rs74016337	1.00[AMR][1000 genomes]
rs74016338	1.00[AMR][1000 genomes]
rs74016339	1.00[AMR][1000 genomes]
rs74016340	1.00[AMR][1000 genomes]
rs74016341	1.00[AMR][1000 genomes]
rs74016342	1.00[AMR][1000 genomes]
rs74016343	1.00[AMR][1000 genomes]
rs74016344	1.00[AMR][1000 genomes]
rs74016345	1.00[AMR][1000 genomes]
rs74016346	1.00[AMR][1000 genomes]
rs74016347	1.00[AMR][1000 genomes]
rs74016348	1.00[AMR][1000 genomes]
rs74016349	1.00[AMR][1000 genomes]
rs74016350	1.00[AMR][1000 genomes]
rs74016351	1.00[AMR][1000 genomes]
rs74016352	1.00[AMR][1000 genomes]
rs74016353	1.00[AMR][1000 genomes]
rs74016355	1.00[AMR][1000 genomes]
rs74016357	1.00[AMR][1000 genomes]
rs74016358	1.00[AMR][1000 genomes]
rs74016362	1.00[AMR][1000 genomes]
rs74016363	1.00[AMR][1000 genomes]
rs74016367	1.00[AMR][1000 genomes]
rs74016372	1.00[AMR][1000 genomes]
rs74016375	1.00[AMR][1000 genomes]
rs74016376	1.00[AMR][1000 genomes]
rs74016377	1.00[AMR][1000 genomes]
rs74016378	1.00[AMR][1000 genomes]
rs74016379	1.00[AMR][1000 genomes]
rs74016381	1.00[AMR][1000 genomes]
rs74016382	1.00[AMR][1000 genomes]
rs74016383	1.00[AMR][1000 genomes]
rs74016384	1.00[AMR][1000 genomes]
rs74016385	1.00[AMR][1000 genomes]
rs74016386	1.00[AMR][1000 genomes]
rs74016387	1.00[AMR][1000 genomes]
rs74016388	1.00[AMR][1000 genomes]
rs74016389	1.00[AMR][1000 genomes]
rs74016390	1.00[AMR][1000 genomes]
rs74016391	1.00[AMR][1000 genomes]
rs74016392	1.00[AMR][1000 genomes]
rs74016393	1.00[AMR][1000 genomes]
rs74016394	1.00[AMR][1000 genomes]
rs74016396	1.00[AMR][1000 genomes]
rs74016397	1.00[AMR][1000 genomes]
rs74016398	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016399	1.00[AMR][1000 genomes]
rs74016400	1.00[AMR][1000 genomes]
rs74016401	1.00[AMR][1000 genomes]
rs74016402	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017903	1.00[AMR][1000 genomes]
rs74017904	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017905	1.00[AMR][1000 genomes]
rs74017907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017908	1.00[AMR][1000 genomes]
rs74017909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017910	1.00[AMR][1000 genomes]
rs74017913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017917	1.00[AMR][1000 genomes]
rs74017920	1.00[AMR][1000 genomes]
rs74017922	1.00[AMR][1000 genomes]
rs74017923	1.00[AMR][1000 genomes]
rs74017924	1.00[AMR][1000 genomes]
rs74017927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017928	1.00[AMR][1000 genomes]
rs74017929	1.00[AMR][1000 genomes]
rs74017930	1.00[AMR][1000 genomes]
rs74017931	1.00[AMR][1000 genomes]
rs74017932	1.00[AMR][1000 genomes]
rs74017933	1.00[AMR][1000 genomes]
rs74017934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017938	1.00[AMR][1000 genomes]
rs74017943	1.00[AMR][1000 genomes]
rs74017945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017946	1.00[AMR][1000 genomes]
rs74017947	1.00[AMR][1000 genomes]
rs74017948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017950	1.00[AMR][1000 genomes]
rs74017951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017952	1.00[AMR][1000 genomes]
rs74017955	1.00[AMR][1000 genomes]
rs74017956	1.00[AMR][1000 genomes]
rs9925219	1.00[AMR][1000 genomes]
rs9926097	1.00[AMR][1000 genomes]
rs9928523	1.00[AMR][1000 genomes]
rs9937947	1.00[AMR][1000 genomes]
rs9940809	1.00[AMR][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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1802902	chr16:48394626-48419662	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400600-48417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48401000-48412600	Weak transcription	Thymus	Thymus
4	chr16:48401600-48412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:48402200-48412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:48403200-48415000	Enhancers	Adipose Nuclei	Adipose
7	chr16:48404800-48417200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr16:48406400-48416800	Enhancers	Liver	Liver
9	chr16:48406600-48417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr16:48407000-48414400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:48407400-48412800	Weak transcription	Colonic Mucosa	Colon
12	chr16:48407600-48412600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:48407600-48413200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:48407600-48413600	Weak transcription	Esophagus	oesophagus
15	chr16:48407800-48413000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:48407800-48417200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:48408000-48412400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr16:48408000-48412600	Weak transcription	Fetal Brain Female	brain
19	chr16:48408000-48415000	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:48408000-48416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:48408400-48412600	Weak transcription	Hela-S3	cervix
22	chr16:48408600-48412600	Weak transcription	Fetal Stomach	stomach
23	chr16:48408600-48413600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:48408800-48412400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:48408800-48412600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:48409000-48412800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:48409000-48417000	Weak transcription	Fetal Kidney	kidney
28	chr16:48409000-48417200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:48409200-48412600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:48409200-48412600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:48409200-48412800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:48409200-48412800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:48409200-48413000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr16:48409200-48413000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:48409200-48416800	Weak transcription	NHDF-Ad	bronchial
36	chr16:48409200-48417000	Weak transcription	NHLF	lung
37	chr16:48409200-48417200	Weak transcription	NH-A	brain
38	chr16:48409200-48417200	Weak transcription	Osteobl	bone
39	chr16:48409400-48412400	Weak transcription	Spleen	Spleen
40	chr16:48409400-48412600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:48409400-48412600	Weak transcription	Aorta	Aorta
42	chr16:48409400-48412600	Weak transcription	Fetal Brain Male	brain
43	chr16:48409400-48412600	Weak transcription	Gastric	stomach
44	chr16:48409400-48412600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr16:48409400-48416800	Weak transcription	HUVEC	blood vessel
46	chr16:48409400-48417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:48409600-48412400	Weak transcription	Stomach Mucosa	stomach
48	chr16:48409600-48412600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr16:48409800-48412400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr16:48409800-48412600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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