Variant report

Variant	rs71385111
Chromosome Location	chr16:12004426-12004427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12002840..12004929-chr16:12070641..12072308,2	MCF-7	breast:
2	chr16:11982694..11985676-chr16:12003356..12006033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260488	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12919041	1.00[AMR][1000 genomes]
rs12921338	1.00[AMR][1000 genomes]
rs12925925	1.00[AMR][1000 genomes]
rs12928585	1.00[AMR][1000 genomes]
rs12929152	1.00[AMR][1000 genomes]
rs12929225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12929268	1.00[AMR][1000 genomes]
rs33625	1.00[EUR][1000 genomes]
rs34913195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35404320	1.00[AMR][1000 genomes]
rs35639837	1.00[AMR][1000 genomes]
rs35882999	1.00[AMR][1000 genomes]
rs36103657	1.00[AMR][1000 genomes]
rs467106	1.00[EUR][1000 genomes]
rs71383288	1.00[AMR][1000 genomes]
rs71383294	1.00[AMR][1000 genomes]
rs71383295	1.00[AMR][1000 genomes]
rs71383296	1.00[AMR][1000 genomes]
rs71383297	1.00[AMR][1000 genomes]
rs71383299	1.00[AMR][1000 genomes]
rs71383302	1.00[AMR][1000 genomes]
rs71385103	1.00[AMR][1000 genomes]
rs71385110	1.00[AMR][1000 genomes]
rs7194287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1735	chr16:11986963-12031597	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv974756	chr16:11999019-12005053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 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	chr16:11966200-12006200	Weak transcription	Fetal Heart	heart
2	chr16:11976600-12004800	Weak transcription	Esophagus	oesophagus
3	chr16:11977000-12007200	Weak transcription	Colonic Mucosa	Colon
4	chr16:11977200-12004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:11982000-12007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:11984600-12006800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:11985000-12007000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr16:11987800-12007600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:11987800-12008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:11989800-12007200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:11989800-12007400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:11990000-12007400	Weak transcription	Lung	lung
13	chr16:11990600-12006600	Weak transcription	Brain Germinal Matrix	brain
14	chr16:11990800-12007000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:11991000-12006800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:11991000-12007400	Weak transcription	Placenta	Placenta
17	chr16:11991400-12007000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:11991600-12006200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:11992000-12007000	Weak transcription	Primary B cells from cord blood	blood
20	chr16:11992200-12007000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:11993400-12004800	Weak transcription	Right Atrium	heart
22	chr16:11995000-12004800	Weak transcription	Gastric	stomach
23	chr16:11996000-12006800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:11997200-12006800	Weak transcription	Spleen	Spleen
25	chr16:11997400-12006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:11999600-12004800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:11999800-12008000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:12000000-12007400	Weak transcription	HSMMtube	muscle
29	chr16:12000400-12004600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:12000400-12004600	Weak transcription	Fetal Intestine Small	intestine
31	chr16:12000400-12004600	Weak transcription	Left Ventricle	heart
32	chr16:12000400-12004600	Weak transcription	Pancreas	Pancrea
33	chr16:12000400-12007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:12000600-12006800	Weak transcription	Fetal Stomach	stomach
35	chr16:12000600-12007000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:12001000-12004600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr16:12001400-12006600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr16:12001600-12006200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:12001600-12006800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr16:12001800-12004800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:12001800-12006200	Weak transcription	Thymus	Thymus
42	chr16:12001800-12007200	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:12002000-12008200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:12002800-12005200	Enhancers	Adipose Nuclei	Adipose
45	chr16:12002800-12005400	Enhancers	Rectal Smooth Muscle	rectum
46	chr16:12002800-12007200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:12003000-12004600	Weak transcription	Dnd41	blood
48	chr16:12003000-12004600	Strong transcription	NHEK	skin
49	chr16:12003000-12005000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr16:12003000-12005200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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