Variant report

Variant	rs6993408
Chromosome Location	chr8:118536441-118536442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118532202..118534620-chr8:118536330..118538671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164758	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17667932	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17667990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1844320	0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56338103	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62521192	0.90[ASN][1000 genomes]
rs62521196	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62521197	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62521201	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62521202	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62521204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521205	0.86[ASN][1000 genomes]
rs72672126	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672138	0.92[AMR][1000 genomes]
rs72672139	0.92[AMR][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	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118533600-118537200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:118533600-118537400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:118533600-118537600	Weak transcription	Lung	lung
4	chr8:118533600-118537800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:118533600-118541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:118533600-118543200	Weak transcription	Placenta	Placenta
7	chr8:118533600-118545800	Weak transcription	Esophagus	oesophagus
8	chr8:118533600-118546000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:118533600-118546000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:118533600-118546400	Weak transcription	Gastric	stomach
11	chr8:118533600-118546400	Weak transcription	Pancreas	Pancrea
12	chr8:118533600-118546400	Weak transcription	Spleen	Spleen
13	chr8:118533800-118541400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:118533800-118541600	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:118533800-118543400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:118533800-118545600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:118533800-118545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:118533800-118546400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:118533800-118553800	Weak transcription	Stomach Mucosa	stomach
20	chr8:118534000-118541600	Weak transcription	Ovary	ovary
21	chr8:118534000-118541800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:118534000-118541800	Weak transcription	Left Ventricle	heart
23	chr8:118534000-118542000	Weak transcription	HSMM	muscle
24	chr8:118534200-118538000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:118534200-118541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:118534200-118543000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:118534200-118543200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:118534200-118545600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:118534200-118545600	Weak transcription	Colonic Mucosa	Colon
30	chr8:118534200-118545800	Weak transcription	Right Ventricle	heart
31	chr8:118534200-118546000	Weak transcription	HSMMtube	muscle
32	chr8:118534200-118546000	Weak transcription	NH-A	brain
33	chr8:118534400-118537200	Weak transcription	Brain Substantia Nigra	brain
34	chr8:118534400-118539400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:118534400-118540800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:118534400-118541000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr8:118534400-118541200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:118534400-118541400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:118534400-118541600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:118534400-118541600	Weak transcription	Fetal Intestine Large	intestine
41	chr8:118534400-118541600	Weak transcription	Fetal Lung	lung
42	chr8:118534400-118541800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:118534400-118542400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:118534400-118543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:118534400-118543000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:118534400-118543200	Weak transcription	Brain Anterior Caudate	brain
47	chr8:118534400-118543200	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:118534400-118543400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:118534400-118543400	Weak transcription	HUVEC	blood vessel
50	chr8:118534400-118545600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links