Variant report

Variant	rs8043683
Chromosome Location	chr16:70387568-70387569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70386496..70388574-chr16:70391241..70393412,2	MCF-7	breast:
2	chr16:70377532..70382370-chr16:70384926..70388445,4	MCF-7	breast:
3	chr16:70386987..70389423-chr16:70409457..70411415,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261777	Chromatin interaction
ENSG00000168872	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17882065	1.00[AMR][1000 genomes]
rs28420658	1.00[AMR][1000 genomes]
rs28523566	1.00[AMR][1000 genomes]
rs7187629	1.00[AMR][1000 genomes]
rs7192564	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202183	1.00[AMR][1000 genomes]
rs7205416	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046296	1.00[AMR][1000 genomes]
rs8051076	0.93[AFR][1000 genomes]
rs8058557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8060051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934907	1.00[AMR][1000 genomes]
rs9936419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70381200-70388800	Weak transcription	Spleen	Spleen
2	chr16:70381200-70389200	Weak transcription	Gastric	stomach
3	chr16:70381400-70389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:70381400-70394400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:70381600-70388600	Weak transcription	Aorta	Aorta
6	chr16:70381600-70388600	Weak transcription	Brain Substantia Nigra	brain
7	chr16:70381600-70389000	Weak transcription	Ovary	ovary
8	chr16:70381600-70389200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:70381600-70392600	Weak transcription	Fetal Kidney	kidney
10	chr16:70381600-70413200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:70381800-70389000	Weak transcription	HSMMtube	muscle
13	chr16:70382000-70387800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:70382000-70388600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:70382000-70388800	Weak transcription	Colonic Mucosa	Colon
16	chr16:70382200-70388400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:70382200-70388600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:70382200-70388600	Weak transcription	NH-A	brain
19	chr16:70382200-70389000	Weak transcription	Fetal Brain Male	brain
20	chr16:70382200-70389000	Weak transcription	GM12878-XiMat	blood
21	chr16:70382200-70389000	Weak transcription	HUVEC	blood vessel
22	chr16:70382200-70389200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr16:70382200-70389200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:70382200-70389400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:70382200-70390200	Weak transcription	Stomach Mucosa	stomach
26	chr16:70382200-70392800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:70382200-70413600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:70382400-70388600	Weak transcription	Small Intestine	intestine
29	chr16:70382400-70389200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:70382400-70389400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr16:70382400-70389400	Weak transcription	HMEC	breast
32	chr16:70382400-70389600	Weak transcription	Right Ventricle	heart
33	chr16:70382600-70413000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:70382800-70387600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr16:70382800-70403600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr16:70382800-70409800	Strong transcription	Fetal Muscle Leg	muscle
37	chr16:70382800-70410800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:70382800-70410800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:70383000-70387600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:70383000-70388600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:70383000-70403600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:70383000-70410200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr16:70383000-70410600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr16:70383000-70410800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:70383000-70413000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:70383000-70413000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr16:70383000-70413000	Strong transcription	Fetal Thymus	thymus
48	chr16:70383200-70412200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:70383200-70413000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:70383200-70413400	Strong transcription	Fetal Stomach	stomach

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