Variant report

Variant	rs2078599
Chromosome Location	chr6:11200421-11200422
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	chr6:11199073..11200744-chr6:11231965..11234780,2	MCF-7	breast:
2	chr6:11199052..11200788-chr6:11207235..11209981,2	K562	blood:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1465131	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1885662	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2146341	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4053067	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4713247	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6456970	0.81[EUR][1000 genomes]
rs9368610	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941982	0.90[AMR][1000 genomes];0.97[EUR][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11179000-11202200	Weak transcription	Brain Substantia Nigra	brain
2	chr6:11185800-11202600	Weak transcription	Brain Angular Gyrus	brain
3	chr6:11190800-11201400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:11191800-11201400	Weak transcription	Esophagus	oesophagus
5	chr6:11192000-11202600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:11192800-11202800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:11192800-11207000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:11192800-11207200	Weak transcription	Liver	Liver
9	chr6:11194000-11202200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:11194000-11202600	Weak transcription	Brain Germinal Matrix	brain
11	chr6:11194800-11201000	Enhancers	Fetal Thymus	thymus
12	chr6:11195000-11203200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:11195400-11201400	Weak transcription	Gastric	stomach
14	chr6:11195400-11203200	Enhancers	Thymus	Thymus
15	chr6:11195400-11207200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:11195600-11202200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:11195600-11207400	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:11196000-11202000	Weak transcription	Stomach Mucosa	stomach
19	chr6:11196000-11203000	Weak transcription	Psoas Muscle	Psoas
20	chr6:11196200-11201600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:11196600-11201800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:11196800-11201800	Genic enhancers	Left Ventricle	heart
23	chr6:11197000-11211000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:11197000-11211200	Genic enhancers	HepG2	liver
25	chr6:11197400-11204000	Enhancers	NHDF-Ad	bronchial
26	chr6:11197600-11201400	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:11197800-11200600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:11197800-11202600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:11197800-11203200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:11197800-11204600	Strong transcription	Primary B cells from cord blood	blood
31	chr6:11198000-11201200	Weak transcription	Brain Anterior Caudate	brain
32	chr6:11198000-11201600	Strong transcription	Fetal Intestine Small	intestine
33	chr6:11198000-11202200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:11198200-11202200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:11198200-11207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:11198400-11200600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:11198400-11201200	Weak transcription	Fetal Brain Female	brain
38	chr6:11198400-11201400	Weak transcription	Fetal Lung	lung
39	chr6:11198400-11201600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:11198400-11201600	Strong transcription	Fetal Stomach	stomach
41	chr6:11198400-11202800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:11198400-11203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:11198400-11203000	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:11198400-11203800	Genic enhancers	Osteobl	bone
45	chr6:11198400-11206600	Genic enhancers	A549	lung
46	chr6:11198600-11202200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:11198600-11203600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:11198800-11200600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:11198800-11200800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:11198800-11201000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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