Variant report

Variant	rs247446
Chromosome Location	chr16:75484241-75484242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75466529..75469115-chr16:75481185..75484731,5	MCF-7	breast:
2	chr16:75482535..75486737-chr16:75496881..75499746,4	MCF-7	breast:
3	chr16:75479224..75481746-chr16:75483426..75485775,2	MCF-7	breast:
4	chr16:75482835..75485909-chr16:75488077..75491215,3	MCF-7	breast:
5	chr16:75480575..75485333-chr16:75494576..75499874,6	K562	blood:

Variant related genes	Relation type
ENSG00000261717	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11149819	0.90[EUR][1000 genomes]
rs166012	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs173526	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs247440	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs37603	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192981	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv521596	chr16:75466696-75486648	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 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	chr16:75468400-75489400	Weak transcription	Small Intestine	intestine
2	chr16:75468600-75487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75468600-75489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:75468800-75484400	Weak transcription	Brain Anterior Caudate	brain
5	chr16:75468800-75484400	Weak transcription	NHEK	skin
6	chr16:75468800-75484600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:75468800-75484600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:75468800-75484600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:75468800-75484800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:75468800-75484800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:75468800-75485400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:75468800-75486400	Weak transcription	Pancreas	Pancrea
13	chr16:75468800-75486400	Weak transcription	Right Atrium	heart
14	chr16:75468800-75486600	Weak transcription	HUVEC	blood vessel
15	chr16:75468800-75489200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:75468800-75493800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr16:75468800-75497000	Weak transcription	NHLF	lung
18	chr16:75469400-75484600	Weak transcription	Spleen	Spleen
19	chr16:75469400-75484800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr16:75469400-75484800	Weak transcription	Brain Angular Gyrus	brain
21	chr16:75469400-75484800	Weak transcription	Brain Hippocampus Middle	brain
22	chr16:75469400-75486600	Weak transcription	K562	blood
23	chr16:75469400-75491000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:75469400-75497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:75469400-75497400	Weak transcription	Psoas Muscle	Psoas
26	chr16:75470000-75484600	Weak transcription	Right Ventricle	heart
27	chr16:75473600-75496000	Weak transcription	HMEC	breast
28	chr16:75476400-75484600	Weak transcription	Thymus	Thymus
29	chr16:75476800-75485800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:75477000-75487000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:75477400-75494400	Weak transcription	NH-A	brain
32	chr16:75477800-75497000	Weak transcription	NHDF-Ad	bronchial
33	chr16:75478000-75484800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr16:75478000-75485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:75478600-75486800	Weak transcription	Ovary	ovary
36	chr16:75478800-75485800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr16:75478800-75485800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:75479200-75485800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr16:75479200-75487200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:75479400-75485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr16:75479400-75485800	Strong transcription	Fetal Intestine Large	intestine
42	chr16:75479400-75493800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:75479600-75485000	Weak transcription	Brain Substantia Nigra	brain
44	chr16:75479600-75486800	Weak transcription	Colon Smooth Muscle	Colon
45	chr16:75479800-75486400	Weak transcription	Fetal Heart	heart
46	chr16:75480200-75485400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:75480200-75485600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:75480200-75485800	Strong transcription	Dnd41	blood
49	chr16:75480400-75485000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:75480400-75485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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