Variant report

Variant	rs516477
Chromosome Location	chr6:33711812-33711813
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33710780..33712378-chr6:33728766..33730415,2	K562	blood:
2	chr6:33706317..33709748-chr6:33710509..33712632,5	MCF-7	breast:
3	chr6:33710698..33713860-chr6:33753568..33757560,4	MCF-7	breast:
4	chr6:33706241..33709561-chr6:33709640..33714031,4	MCF-7	breast:
5	chr6:33700581..33702116-chr6:33711630..33713944,2	K562	blood:
6	chr6:33710878..33712572-chr6:33728483..33730415,2	K562	blood:
7	chr6:33710782..33712479-chr6:33760281..33762991,2	MCF-7	breast:
8	chr6:33708535..33711845-chr6:33715070..33719242,6	MCF-7	breast:
9	chr6:33587417..33588935-chr6:33710962..33713150,2	MCF-7	breast:
10	chr6:33711726..33713871-chr6:33755985..33757617,2	K562	blood:
11	chr6:33711077..33714000-chr6:33723904..33727038,3	MCF-7	breast:
12	chr6:33667241..33669923-chr6:33710850..33712681,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161904	Chromatin interaction
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs570058	0.91[AMR][1000 genomes]
rs597304	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs680229	0.90[ASN][1000 genomes]
rs6941414	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs516477	HLA-DPA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33693600-33712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:33705400-33712000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:33706600-33715800	Enhancers	Fetal Intestine Large	intestine
4	chr6:33707400-33714000	Weak transcription	Spleen	Spleen
5	chr6:33709000-33712000	Weak transcription	Gastric	stomach
6	chr6:33709000-33712400	Weak transcription	Fetal Heart	heart
7	chr6:33710000-33712600	Transcr. at gene 5' and 3'	HSMM	muscle
8	chr6:33710200-33712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:33710400-33712000	Enhancers	Brain Hippocampus Middle	brain
10	chr6:33710400-33712000	Enhancers	Brain Substantia Nigra	brain
11	chr6:33710400-33712000	Enhancers	Fetal Lung	lung
12	chr6:33710400-33712200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:33710600-33712000	Enhancers	Brain Angular Gyrus	brain
14	chr6:33710600-33712000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:33710600-33713200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:33710600-33715200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:33710800-33712000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:33710800-33712000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:33710800-33712000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:33710800-33712000	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:33710800-33712400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:33710800-33712400	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:33710800-33714200	Enhancers	Pancreas	Pancrea
24	chr6:33710800-33716600	Active TSS	Psoas Muscle	Psoas
25	chr6:33711000-33712000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:33711000-33712000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:33711000-33712000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:33711000-33712000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:33711000-33712000	Weak transcription	Right Atrium	heart
30	chr6:33711000-33712000	Active TSS	Right Ventricle	heart
31	chr6:33711000-33712800	Weak transcription	Lung	lung
32	chr6:33711200-33712200	Weak transcription	Brain Germinal Matrix	brain
33	chr6:33711200-33712200	Weak transcription	Fetal Brain Female	brain
34	chr6:33711200-33713600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr6:33711200-33715600	Enhancers	Fetal Intestine Small	intestine
36	chr6:33711400-33712000	Enhancers	Fetal Muscle Leg	muscle
37	chr6:33711400-33712000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:33711400-33712200	Bivalent Enhancer	Fetal Kidney	kidney
39	chr6:33711400-33713000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr6:33711600-33712000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:33711600-33712000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr6:33711600-33712000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr6:33711600-33712000	Enhancers	HepG2	liver
44	chr6:33711600-33712400	Enhancers	HMEC	breast
45	chr6:33711600-33712600	Enhancers	Stomach Mucosa	stomach
46	chr6:33711600-33713200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:33711600-33713800	Enhancers	Placenta	Placenta
48	chr6:33711600-33714000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr6:33711600-33714200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:33711800-33712000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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