Variant report

Variant	rs680608
Chromosome Location	chr6:33713169-33713170
allele	C/T
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:0)
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	chr6:33710698..33713860-chr6:33753568..33757560,4	MCF-7	breast:
2	chr6:33706241..33709561-chr6:33709640..33714031,4	MCF-7	breast:
3	chr6:33700581..33702116-chr6:33711630..33713944,2	K562	blood:
4	chr6:33712841..33714419-chr6:33746721..33749211,2	K562	blood:
5	chr6:33711726..33713871-chr6:33755985..33757617,2	K562	blood:
6	chr6:33711077..33714000-chr6:33723904..33727038,3	MCF-7	breast:
7	chr6:33712629..33714583-chr6:33734231..33736589,2	MCF-7	breast:
8	chr6:33704170..33706056-chr6:33712043..33713593,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10947436	0.94[ASN][1000 genomes]
rs11751943	0.94[ASN][1000 genomes]
rs1536501	0.94[ASN][1000 genomes]
rs2182659	0.94[ASN][1000 genomes]
rs2395401	0.94[ASN][1000 genomes]
rs2395447	0.94[ASN][1000 genomes]
rs4711350	0.94[ASN][1000 genomes]
rs487835	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530614	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549652	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs570749	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602399	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608971	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623813	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs652049	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs658087	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs684119	0.89[EUR][1000 genomes]
rs6915136	0.85[EUR][1000 genomes]
rs751727	0.94[ASN][1000 genomes]
rs791904	0.82[EUR][1000 genomes]
rs943464	0.94[ASN][1000 genomes]
rs943472	0.94[ASN][1000 genomes]

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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33706600-33715800	Enhancers	Fetal Intestine Large	intestine
2	chr6:33707400-33714000	Weak transcription	Spleen	Spleen
3	chr6:33710600-33713200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:33710600-33715200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:33710800-33714200	Enhancers	Pancreas	Pancrea
6	chr6:33710800-33716600	Active TSS	Psoas Muscle	Psoas
7	chr6:33711200-33713600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr6:33711200-33715600	Enhancers	Fetal Intestine Small	intestine
9	chr6:33711600-33713200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:33711600-33713800	Enhancers	Placenta	Placenta
11	chr6:33711600-33714000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:33711600-33714200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33711800-33713200	Enhancers	Esophagus	oesophagus
14	chr6:33711800-33713800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:33711800-33713800	Enhancers	Colonic Mucosa	Colon
16	chr6:33711800-33713800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr6:33711800-33714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:33711800-33714600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:33711800-33714600	Enhancers	NHEK	skin
20	chr6:33711800-33715000	Active TSS	Left Ventricle	heart
21	chr6:33711800-33715200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:33711800-33715600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:33711800-33715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:33712000-33713400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:33712000-33713600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:33712000-33713800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:33712000-33714000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:33712000-33714400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:33712000-33714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:33712000-33714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:33712000-33715000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:33712000-33715400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr6:33712000-33717000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:33712000-33717800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:33712200-33713600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:33712200-33713800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:33712200-33714400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:33712200-33714800	Enhancers	Fetal Stomach	stomach
39	chr6:33712200-33714800	Active TSS	Right Atrium	heart
40	chr6:33712200-33715200	Enhancers	NHLF	lung
41	chr6:33712400-33713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:33712400-33713400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:33712400-33713600	Enhancers	Liver	Liver
44	chr6:33712400-33713800	Enhancers	Fetal Kidney	kidney
45	chr6:33712400-33713800	Enhancers	Fetal Lung	lung
46	chr6:33712400-33713800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr6:33712400-33714000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:33712400-33714200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:33712400-33714200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:33712400-33714400	Enhancers	Cortex derived primary cultured neurospheres	brain

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