Variant report

Variant	rs59930096
Chromosome Location	chr16:12305048-12305049
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	chr16:12298053..12299977-chr16:12303938..12306592,2	MCF-7	breast:
2	chr16:12303926..12305939-chr16:12313108..12314965,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12102559	1.00[AMR][1000 genomes]
rs12103066	1.00[AMR][1000 genomes]
rs158469	1.00[AMR][1000 genomes]
rs158471	1.00[AMR][1000 genomes]
rs158472	1.00[AMR][1000 genomes]
rs158476	1.00[AMR][1000 genomes]
rs2080495	1.00[AMR][1000 genomes]
rs209838	1.00[AMR][1000 genomes]
rs2856769	1.00[AMR][1000 genomes]
rs289671	1.00[AMR][1000 genomes]
rs31677	1.00[AMR][1000 genomes]
rs40994	1.00[AMR][1000 genomes]
rs56817982	1.00[AMR][1000 genomes]
rs57924692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200680	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1052973	chr16:12188092-12307880	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv571461	chr16:12268830-12314451	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:12282800-12305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12282800-12322600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:12283400-12310200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:12291400-12316200	Strong transcription	Primary T cells from cord blood	blood
6	chr16:12292200-12322200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:12292800-12310200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr16:12293600-12319800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:12294800-12322400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:12295200-12311400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:12295600-12319800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:12295800-12320800	Weak transcription	HSMMtube	muscle
13	chr16:12296200-12319800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:12296600-12322600	Weak transcription	Right Ventricle	heart
15	chr16:12296800-12313000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:12297000-12322400	Weak transcription	Ovary	ovary
17	chr16:12297200-12305800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:12297200-12309600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:12297400-12353800	Weak transcription	Gastric	stomach
20	chr16:12297800-12310600	Weak transcription	Thymus	Thymus
21	chr16:12298000-12310600	Weak transcription	Pancreas	Pancrea
22	chr16:12298400-12307800	Weak transcription	Brain Substantia Nigra	brain
23	chr16:12298400-12319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:12298600-12307800	Weak transcription	Brain Angular Gyrus	brain
25	chr16:12298800-12322000	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:12299200-12307400	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:12299400-12308200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr16:12299600-12309000	Weak transcription	Aorta	Aorta
29	chr16:12299600-12322200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr16:12299600-12322400	Weak transcription	Spleen	Spleen
31	chr16:12299800-12307200	Weak transcription	Adipose Nuclei	Adipose
32	chr16:12299800-12309400	Weak transcription	Lung	lung
33	chr16:12302200-12312800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:12302600-12310800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:12302600-12312200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:12302600-12322000	Weak transcription	Esophagus	oesophagus
37	chr16:12302800-12322000	Weak transcription	NHDF-Ad	bronchial
38	chr16:12302800-12322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:12303000-12322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:12303200-12307800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:12303200-12313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:12303200-12322800	Weak transcription	NHEK	skin
43	chr16:12303800-12308000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr16:12303800-12321800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:12304000-12312000	Strong transcription	Primary B cells from cord blood	blood
46	chr16:12304400-12305400	Enhancers	Fetal Intestine Large	intestine
47	chr16:12304400-12305800	Flanking Active TSS	HepG2	liver
48	chr16:12304600-12306200	Enhancers	Fetal Intestine Small	intestine
49	chr16:12304600-12306400	Enhancers	Duodenum Mucosa	Duodenum
50	chr16:12304800-12305800	Enhancers	Liver	Liver

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