Variant report

Variant	rs13330178
Chromosome Location	chr16:71880586-71880587
allele	C/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
2	chr16:71841032..71844957-chr16:71878188..71881982,18	MCF-7	breast:
3	chr16:71880303..71880911-chr16:71995074..71995598,2	MCF-7	breast:
4	chr16:71840441..71845295-chr16:71875076..71881716,14	K562	blood:
5	chr16:71756009..71758513-chr16:71878989..71881221,2	K562	blood:
6	chr16:71878736..71881297-chr20:57268088..57270906,2	MCF-7	breast:
7	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
8	chr16:71841284..71844520-chr16:71878157..71881366,4	K562	blood:
9	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
10	chr16:71756649..71759449-chr16:71879809..71882216,3	MCF-7	breast:
11	chr16:71879510..71881419-chr16:72127750..72129828,2	MCF-7	breast:
12	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
13	chr16:71878378..71882676-chr16:71918678..71922110,3	K562	blood:
14	chr16:71755537..71758357-chr16:71878950..71881033,2	K562	blood:
15	chr16:71841846..71843774-chr16:71878337..71881293,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140829	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000261765	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000215440	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000140830	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10500567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10852507	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075906	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11639843	0.82[ASN][1000 genomes]
rs11640135	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11644740	0.82[ASN][1000 genomes]
rs11865456	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149307	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149325	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12149917	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12445564	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12445641	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12448086	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12921279	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12921459	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12927691	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12934512	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17357420	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17358402	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28667298	0.89[ASN][1000 genomes]
rs2878494	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3088285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34029919	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34101687	0.82[ASN][1000 genomes]
rs34664834	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35028754	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35209006	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35404791	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35535529	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs35595148	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36182990	0.82[ASN][1000 genomes]
rs3751820	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4528577	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71384781	0.91[EUR][1000 genomes]
rs71384782	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71386939	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71386940	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71386942	0.82[ASN][1000 genomes]
rs7185027	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7188591	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7191848	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7195988	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7197486	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7198834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7200447	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73586164	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8046044	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8049508	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8050058	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8052358	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8053906	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8063657	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9940234	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 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	chr16:71879000-71880600	Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr16:71879000-71880600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:71879000-71880600	Active TSS	Brain Substantia Nigra	brain
4	chr16:71879000-71880800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr16:71879000-71880800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:71879000-71880800	Active TSS	Muscle Satellite Cultured Cells	--
7	chr16:71879000-71880800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:71879000-71880800	Active TSS	Aorta	Aorta
9	chr16:71879000-71880800	Active TSS	A549	lung
10	chr16:71879000-71880800	Active TSS	HSMM	muscle
11	chr16:71879000-71880800	Active TSS	NHDF-Ad	bronchial
12	chr16:71879000-71881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:71879000-71881000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr16:71879000-71881000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:71879000-71881000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:71879000-71881000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr16:71879000-71881000	Active TSS	Fetal Kidney	kidney
18	chr16:71879000-71881400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr16:71879000-71881400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:71879200-71880600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:71879200-71880600	Active TSS	Brain Anterior Caudate	brain
22	chr16:71879200-71880600	Active TSS	Brain Hippocampus Middle	brain
23	chr16:71879200-71880600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr16:71879200-71880600	Active TSS	Fetal Brain Female	brain
25	chr16:71879200-71880600	Active TSS	Fetal Lung	lung
26	chr16:71879200-71880600	Active TSS	Fetal Stomach	stomach
27	chr16:71879200-71880600	Active TSS	Left Ventricle	heart
28	chr16:71879200-71880600	Active TSS	Pancreas	Pancrea
29	chr16:71879200-71880600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr16:71879200-71880600	Active TSS	Thymus	Thymus
31	chr16:71879200-71880600	Active TSS	K562	blood
32	chr16:71879200-71880600	Active TSS	NHEK	skin
33	chr16:71879200-71880800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:71879200-71880800	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr16:71879200-71880800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr16:71879200-71880800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:71879200-71880800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:71879200-71880800	Active TSS	Brain Angular Gyrus	brain
39	chr16:71879200-71880800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:71879200-71880800	Active TSS	Esophagus	oesophagus
41	chr16:71879200-71880800	Active TSS	Fetal Intestine Large	intestine
42	chr16:71879200-71880800	Active TSS	Fetal Intestine Small	intestine
43	chr16:71879200-71880800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr16:71879200-71880800	Active TSS	HMEC	breast
45	chr16:71879200-71880800	Active TSS	HSMMtube	muscle
46	chr16:71879200-71880800	Active TSS	NHLF	lung
47	chr16:71879200-71880800	Active TSS	Osteobl	bone
48	chr16:71879200-71881000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr16:71879200-71881000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:71879200-71881000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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