Variant report

Variant	rs12191682
Chromosome Location	chr6:79943786-79943787
allele	A/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:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:79785425..79789135-chr6:79942833..79950296,12	MCF-7	breast:
2	chr1:6844739..6845346-chr6:79943133..79943886,2	Hela-S3	cervix:
3	chr1:48225541..48226359-chr6:79943705..79944280,2	Hela-S3	cervix:
4	chr1:115300319..115300982-chr6:79943552..79944486,2	HCT-116	colon:
5	chr1:152371971..152372478-chr6:79943574..79944555,2	MCF-7	breast:
6	chr6:79782683..79789958-chr6:79939846..79945776,22	MCF-7	breast:
7	chr6:79787878..79790499-chr6:79943656..79946271,3	K562	blood:
8	chr6:79785468..79790645-chr6:79941426..79946271,8	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK1BP1-1	chr6:79943779-79946510	ENSG00000247783
2	lnc-IRAK1BP1-1	chr6:79943779-79946517	NONHSAT113679
3	lnc-IRAK1BP1-1	chr6:79943779-79946514	ENSG00000270362.1

No data

Variant related genes	Relation type
ENSG00000237436	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000183586	Chromatin interaction
ENSG00000146247	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1060419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11759494	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12214161	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs12661489	0.88[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1335539	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2065752	0.96[ASN][1000 genomes]
rs2322217	0.96[ASN][1000 genomes]
rs2322218	0.90[ASN][1000 genomes]
rs4112503	0.96[ASN][1000 genomes]
rs4272177	0.90[ASN][1000 genomes]
rs4499887	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6930131	0.83[ASW][hapmap]
rs6931935	0.98[ASN][1000 genomes]
rs7742739	0.90[ASN][1000 genomes]
rs7757529	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9361501	0.83[ASN][1000 genomes]
rs9361503	0.88[CEU][hapmap];0.98[TSI][hapmap]

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	nsv830706	chr6:79825910-79994878	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr6:79941600-79945000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:79942200-79944800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:79942400-79944800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:79942400-79944800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:79942400-79944800	Active TSS	GM12878-XiMat	blood
6	chr6:79942600-79944200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:79942600-79944800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:79942600-79944800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:79942600-79944800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:79942800-79944400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:79942800-79944400	Active TSS	Left Ventricle	heart
12	chr6:79942800-79944600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr6:79942800-79944600	Active TSS	HSMM	muscle
14	chr6:79942800-79944600	Active TSS	NHDF-Ad	bronchial
15	chr6:79942800-79944600	Active TSS	Osteobl	bone
16	chr6:79942800-79944800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:79942800-79944800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:79942800-79944800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:79942800-79944800	Active TSS	Liver	Liver
20	chr6:79942800-79944800	Active TSS	Brain Germinal Matrix	brain
21	chr6:79942800-79944800	Active TSS	Fetal Brain Female	brain
22	chr6:79942800-79944800	Active TSS	Fetal Stomach	stomach
23	chr6:79942800-79944800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:79942800-79944800	Active TSS	HSMMtube	muscle
25	chr6:79942800-79944800	Active TSS	NHLF	lung
26	chr6:79942800-79945000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:79942800-79945000	Active TSS	A549	lung
28	chr6:79943000-79943800	Active TSS	HepG2	liver
29	chr6:79943000-79944400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:79943000-79944400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:79943000-79944400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:79943000-79944400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:79943000-79944400	Active TSS	Fetal Thymus	thymus
34	chr6:79943000-79944400	Active TSS	Stomach Mucosa	stomach
35	chr6:79943000-79944600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:79943000-79944600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:79943000-79944600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:79943000-79944600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:79943000-79944600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:79943000-79944600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:79943000-79944600	Active TSS	Duodenum Mucosa	Duodenum
42	chr6:79943000-79944600	Active TSS	Fetal Heart	heart
43	chr6:79943000-79944600	Active TSS	Hela-S3	cervix
44	chr6:79943000-79944600	Active TSS	HMEC	breast
45	chr6:79943000-79944800	Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:79943000-79944800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:79943000-79944800	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:79943000-79944800	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr6:79943000-79944800	Active TSS	Brain Angular Gyrus	brain
50	chr6:79943000-79944800	Active TSS	Brain Anterior Caudate	brain

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