Variant report

Variant	rs12079982
Chromosome Location	chr1:59370110-59370111
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59348233..59353011-chr1:59368695..59371190,6	K562	blood:
2	chr1:59361444..59363025-chr1:59368873..59370634,2	MCF-7	breast:
3	chr1:59369290..59370205-chr3:156878083..156878638,2	Hela-S3	cervix:
4	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
5	chr1:59363087..59366662-chr1:59367277..59371776,8	K562	blood:
6	chr1:59360593..59363269-chr1:59368907..59370724,2	MCF-7	breast:
7	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
8	chr1:59368962..59371702-chr1:59384536..59386461,2	MCF-7	breast:
9	chr1:59248088..59252183-chr1:59365231..59372787,10	MCF-7	breast:
10	chr1:59370025..59373918-chr1:59374367..59377851,5	K562	blood:
11	chr1:59247507..59253331-chr1:59366916..59371031,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000232453	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11207320	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11207324	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11207327	0.83[AFR][1000 genomes]
rs12239208	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41287670	0.90[ASN][1000 genomes]
rs57136299	0.85[ASN][1000 genomes]
rs58692001	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59816047	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61474703	0.81[ASN][1000 genomes]
rs72921508	0.85[ASN][1000 genomes]
rs744171	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59368800-59370200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:59368800-59370200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:59368800-59370200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:59368800-59370200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:59368800-59370200	Active TSS	Brain Substantia Nigra	brain
6	chr1:59368800-59370200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:59368800-59370200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:59368800-59370200	Flanking Active TSS	Dnd41	blood
9	chr1:59368800-59370200	Flanking Active TSS	HMEC	breast
10	chr1:59368800-59370400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:59369000-59370200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:59369000-59370200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:59369000-59370200	Active TSS	Brain Hippocampus Middle	brain
14	chr1:59369000-59370200	Active TSS	Fetal Brain Female	brain
15	chr1:59369000-59370200	Active TSS	Psoas Muscle	Psoas
16	chr1:59369200-59370200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:59369200-59370200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:59369200-59370200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:59369200-59370200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:59369200-59370200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr1:59369200-59370200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr1:59369200-59370200	Active TSS	Fetal Lung	lung
23	chr1:59369200-59370200	Active TSS	Lung	lung
24	chr1:59369200-59370200	Active TSS	HSMM	muscle
25	chr1:59369200-59370200	Active TSS	K562	blood
26	chr1:59369200-59370400	Active TSS	Pancreas	Pancrea
27	chr1:59369400-59370200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:59369400-59370200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:59369400-59370200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:59369400-59370200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:59369400-59370200	Active TSS	Primary T cells from cord blood	blood
32	chr1:59369400-59370200	Active TSS	Primary hematopoietic stem cells	blood
33	chr1:59369400-59370200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:59369400-59370200	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:59369600-59370200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:59369600-59370200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:59369600-59370200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:59369600-59370200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:59369800-59370200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:59369800-59370200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:59369800-59370200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:59369800-59370200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:59369800-59370200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr1:59369800-59370200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:59369800-59370200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:59369800-59370200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:59369800-59370200	Flanking Active TSS	Liver	Liver
48	chr1:59369800-59370200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr1:59369800-59370200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:59369800-59370200	Flanking Active TSS	Colonic Mucosa	Colon

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