Variant report

Variant	rs8058557
Chromosome Location	chr16:70413484-70413485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70413028..70417887-chr16:70485225..70490092,12	MCF-7	breast:
2	chr16:70413215..70416772-chr16:70556199..70563150,13	MCF-7	breast:
3	chr16:70413405..70415222-chr16:70569213..70571197,2	MCF-7	breast:
4	chr16:70378223..70384231-chr16:70413255..70416872,7	MCF-7	breast:
5	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
6	chr16:70412847..70415449-chr16:70713492..70715384,2	MCF-7	breast:
7	chr16:70412934..70415272-chr16:70540814..70543390,2	MCF-7	breast:
8	chr16:70412581..70417154-chr16:70486443..70491865,11	MCF-7	breast:
9	chr16:70412278..70414486-chr17:60004606..60007094,2	MCF-7	breast:
10	chr16:70411449..70413987-chr16:70507586..70509151,2	MCF-7	breast:
11	chr16:70413020..70418181-chr16:70497448..70510572,26	MCF-7	breast:
12	chr16:70411913..70419512-chr16:70432088..70435360,7	MCF-7	breast:
13	chr16:70413182..70415523-chr5:139025161..139027114,2	MCF-7	breast:
14	chr16:70413470..70415352-chr16:70682126..70684373,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDX19A-1	chr16:70413360-70413569	ENSG00000260111.1

No data

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction
ENSG00000171604	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000261777	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17882065	1.00[AMR][1000 genomes]
rs28420658	1.00[AMR][1000 genomes]
rs28523566	1.00[AMR][1000 genomes]
rs7184495	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs7187629	1.00[AMR][1000 genomes]
rs7192564	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195180	1.00[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs7196338	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200890	0.83[AFR][1000 genomes]
rs7202183	1.00[AMR][1000 genomes]
rs7203007	1.00[ASW][hapmap]
rs7205416	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8043683	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046296	1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048007	1.00[AMR][1000 genomes]
rs8051076	0.97[AFR][1000 genomes]
rs8059844	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8060051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70381600-70414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:70382200-70413600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:70383600-70413600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:70387800-70414000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:70398800-70414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:70399000-70414200	Weak transcription	Psoas Muscle	Psoas
7	chr16:70400600-70413800	Weak transcription	HMEC	breast
8	chr16:70401000-70413800	Weak transcription	HUVEC	blood vessel
9	chr16:70404400-70414000	Weak transcription	Right Atrium	heart
10	chr16:70406800-70414000	Weak transcription	Small Intestine	intestine
11	chr16:70407000-70414000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70407200-70414000	Weak transcription	Esophagus	oesophagus
13	chr16:70407600-70413800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:70407800-70413800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:70407800-70413800	Weak transcription	Colonic Mucosa	Colon
16	chr16:70407800-70413800	Weak transcription	HSMMtube	muscle
17	chr16:70407800-70414000	Weak transcription	Pancreas	Pancrea
18	chr16:70407800-70414200	Weak transcription	Gastric	stomach
19	chr16:70409600-70416400	Weak transcription	K562	blood
20	chr16:70410200-70413800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:70410200-70413800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:70410200-70413800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:70410400-70413600	Weak transcription	Brain Angular Gyrus	brain
24	chr16:70410400-70413800	Weak transcription	Brain Hippocampus Middle	brain
25	chr16:70410400-70413800	Weak transcription	Brain Substantia Nigra	brain
26	chr16:70410400-70413800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:70410400-70413800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:70410400-70414000	Weak transcription	Left Ventricle	heart
29	chr16:70410400-70414000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:70410400-70414200	Weak transcription	Aorta	Aorta
31	chr16:70410400-70414200	Weak transcription	Ovary	ovary
32	chr16:70410600-70413800	Weak transcription	Liver	Liver
33	chr16:70410600-70413800	Weak transcription	Brain Anterior Caudate	brain
34	chr16:70410600-70413800	Weak transcription	Spleen	Spleen
35	chr16:70410600-70413800	Weak transcription	NHLF	lung
36	chr16:70410600-70414000	Weak transcription	Lung	lung
37	chr16:70410600-70414000	Weak transcription	NHDF-Ad	bronchial
38	chr16:70410600-70414200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:70410800-70413600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr16:70410800-70413600	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:70410800-70413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr16:70410800-70413800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:70410800-70413800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr16:70410800-70413800	Weak transcription	Right Ventricle	heart
45	chr16:70411000-70414000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:70411400-70413800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:70411400-70413800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:70412200-70413600	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr16:70412600-70413800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:70412800-70413600	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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