Variant report

Variant	rs58434182
Chromosome Location	chr16:70338926-70338927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70321312..70323493-chr16:70338115..70340559,2	MCF-7	breast:
2	chr16:70333712..70335282-chr16:70336416..70339025,2	K562	blood:
3	chr16:70332738..70336879-chr16:70337579..70341949,6	MCF-7	breast:
4	chr16:70338862..70341028-chr16:70375885..70378298,2	MCF-7	breast:
5	chr16:70332960..70334617-chr16:70337801..70340497,2	MCF-7	breast:
6	chr16:70338003..70340478-chr16:70365568..70367994,2	K562	blood:
7	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:

Variant related genes	Relation type
ENSG00000090861	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000157349	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11859870	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11861097	1.00[EUR][1000 genomes]
rs11861651	0.85[AMR][1000 genomes]
rs11863128	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16970121	0.83[AFR][1000 genomes]
rs16970133	1.00[EUR][1000 genomes]
rs16970149	1.00[EUR][1000 genomes]
rs16970151	1.00[EUR][1000 genomes]
rs16970152	1.00[EUR][1000 genomes]
rs16970153	1.00[EUR][1000 genomes]
rs16970159	1.00[EUR][1000 genomes]
rs16970165	1.00[EUR][1000 genomes]
rs16970302	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28438754	0.85[AMR][1000 genomes]
rs35904382	0.92[AFR][1000 genomes]
rs3972077	0.85[AMR][1000 genomes]
rs3972090	0.92[AMR][1000 genomes]
rs55936739	0.84[AMR][1000 genomes]
rs55963712	1.00[EUR][1000 genomes]
rs56050266	0.94[AFR][1000 genomes]
rs56077083	0.85[AMR][1000 genomes]
rs56096542	1.00[EUR][1000 genomes]
rs56348821	1.00[EUR][1000 genomes]
rs56836664	0.87[AFR][1000 genomes]
rs57150196	1.00[EUR][1000 genomes]
rs57492770	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58047061	0.83[AFR][1000 genomes]
rs58467558	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59116576	1.00[EUR][1000 genomes]
rs59260159	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59272950	0.85[AMR][1000 genomes]
rs59552467	1.00[EUR][1000 genomes]
rs60011151	1.00[EUR][1000 genomes]
rs60387488	1.00[EUR][1000 genomes]
rs61284127	1.00[EUR][1000 genomes]
rs61369696	1.00[EUR][1000 genomes]
rs61391917	1.00[EUR][1000 genomes]
rs6499306	1.00[EUR][1000 genomes]
rs6499307	1.00[EUR][1000 genomes]
rs6499312	0.82[AFR][1000 genomes]
rs7184248	1.00[EUR][1000 genomes]
rs7184643	1.00[EUR][1000 genomes]
rs7184759	1.00[EUR][1000 genomes]
rs7188864	0.82[AFR][1000 genomes]
rs7189535	1.00[EUR][1000 genomes]
rs7192000	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7195104	1.00[EUR][1000 genomes]
rs7198871	0.85[AFR][1000 genomes]
rs7198923	1.00[EUR][1000 genomes]
rs7199655	0.82[AFR][1000 genomes]
rs7203548	1.00[EUR][1000 genomes]
rs7203761	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7205871	1.00[EUR][1000 genomes]
rs7205918	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74024183	0.84[AFR][1000 genomes]
rs74024188	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74024196	1.00[EUR][1000 genomes]
rs74026026	1.00[EUR][1000 genomes]
rs8044699	1.00[EUR][1000 genomes]
rs8045769	1.00[EUR][1000 genomes]
rs8046786	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8049361	1.00[EUR][1000 genomes]
rs8050252	1.00[EUR][1000 genomes]
rs8053883	1.00[EUR][1000 genomes]
rs8054203	0.82[AFR][1000 genomes]
rs8056048	0.85[AMR][1000 genomes]
rs8058032	1.00[EUR][1000 genomes]
rs9673623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
4	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	esv20407	chr16:70338596-70341204	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70343800	Weak transcription	Lung	lung
2	chr16:70333800-70348800	Weak transcription	Placenta	Placenta
3	chr16:70333800-70349600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:70333800-70350200	Weak transcription	Gastric	stomach
5	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
6	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
7	chr16:70334000-70339000	Weak transcription	Primary T cells from cord blood	blood
8	chr16:70334000-70348800	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:70334000-70349400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr16:70334000-70349400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:70334000-70349400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr16:70334000-70349400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:70334000-70349400	Weak transcription	HSMMtube	muscle
14	chr16:70334000-70349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:70334000-70349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:70334000-70349800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:70334000-70349800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:70334000-70349800	Weak transcription	Ovary	ovary
19	chr16:70334000-70349800	Weak transcription	Right Ventricle	heart
20	chr16:70334000-70349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
22	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
24	chr16:70334200-70349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:70334200-70349800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
28	chr16:70334400-70340000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:70334400-70349400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr16:70334400-70349800	Weak transcription	Esophagus	oesophagus
31	chr16:70334600-70339000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:70334600-70339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:70334800-70349400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr16:70334800-70349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:70335200-70339000	Weak transcription	Liver	Liver
36	chr16:70335200-70344200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:70335200-70347000	Weak transcription	Adipose Nuclei	Adipose
38	chr16:70335200-70348800	Weak transcription	Brain Angular Gyrus	brain
39	chr16:70335200-70349800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr16:70335200-70349800	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:70335200-70349800	Weak transcription	Fetal Intestine Large	intestine
42	chr16:70335400-70347200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr16:70335400-70349200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr16:70335400-70349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr16:70335400-70349400	Weak transcription	Brain Anterior Caudate	brain
46	chr16:70335400-70349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:70335400-70349800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr16:70335400-70349800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr16:70335400-70349800	Weak transcription	HSMM	muscle
50	chr16:70335400-70350400	Weak transcription	Brain Inferior Temporal Lobe	brain

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