Variant report

Variant	rs55933030
Chromosome Location	chr8:96241816-96241817
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96145482..96148403-chr8:96241783..96244505,2	MCF-7	breast:
2	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
3	chr8:96240965..96243166-chr8:96252025..96254042,3	K562	blood:
4	chr8:96238086..96240049-chr8:96241356..96243074,2	K562	blood:
5	chr8:96240789..96242805-chr8:96252372..96254385,3	K562	blood:
6	chr8:96084881..96087733-chr8:96239867..96242215,3	MCF-7	breast:
7	chr8:96222215..96224892-chr8:96239784..96242279,2	MCF-7	breast:
8	chr8:96241566..96243964-chr8:96265502..96267289,2	K562	blood:
9	chr8:96241648..96244611-chr8:96247721..96251221,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10109660	0.80[ASN][1000 genomes]
rs3927027	0.80[ASN][1000 genomes]
rs4308702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4552866	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60892301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522653	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62522659	0.82[ASN][1000 genomes]
rs6996096	0.80[AMR][1000 genomes]
rs72664684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96235000-96242200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
4	chr8:96238600-96242000	Weak transcription	HSMMtube	muscle
5	chr8:96238600-96244800	Weak transcription	Left Ventricle	heart
6	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:96238800-96243800	Weak transcription	Fetal Heart	heart
8	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:96239000-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:96239000-96244000	Weak transcription	Right Atrium	heart
11	chr8:96239000-96244800	Weak transcription	Right Ventricle	heart
12	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:96239400-96242000	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:96239600-96244600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:96239800-96244400	Weak transcription	Fetal Stomach	stomach
16	chr8:96240400-96244200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:96240800-96242000	Enhancers	Fetal Intestine Large	intestine
18	chr8:96240800-96242000	Enhancers	Fetal Intestine Small	intestine
19	chr8:96241000-96242200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:96241000-96242200	Enhancers	NHEK	skin
21	chr8:96241000-96242400	Weak transcription	Thymus	Thymus
22	chr8:96241000-96243800	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:96241000-96246800	Weak transcription	HepG2	liver
24	chr8:96241200-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:96241200-96245000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:96241400-96243200	Weak transcription	Primary T cells from cord blood	blood
27	chr8:96241400-96243600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:96241400-96243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:96241400-96244000	Enhancers	K562	blood
30	chr8:96241600-96242000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:96241800-96243200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:96241800-96243400	Enhancers	GM12878-XiMat	blood
33	chr8:96241800-96243600	Weak transcription	Spleen	Spleen
34	chr8:96241800-96244600	Weak transcription	Lung	lung
35	chr8:96241800-96245000	Weak transcription	Esophagus	oesophagus

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