Variant report

Variant	rs73341898
Chromosome Location	chr8:125635236-125635237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125634289-125636640	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125617943..125619581-chr8:125634142..125635689,2	MCF-7	breast:
2	chr8:125635175..125638018-chr8:125739345..125741656,2	MCF-7	breast:
3	chr8:125634912..125639122-chr8:125652761..125656973,4	K562	blood:
4	chr8:125633171..125635240-chr8:125826139..125827745,2	K562	blood:
5	chr8:125612814..125615760-chr8:125633256..125635974,2	MCF-7	breast:
6	chr8:125633578..125635485-chr8:125639312..125641576,2	K562	blood:
7	chr8:125621603..125623262-chr8:125633980..125636812,2	K562	blood:
8	chr8:125629075..125631557-chr8:125633717..125635693,2	K562	blood:
9	chr8:125635200..125638584-chr8:125825947..125829303,4	K562	blood:
10	chr8:125629075..125632423-chr8:125634166..125635871,3	K562	blood:

No data

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10110296	1.00[ASN][1000 genomes]
rs13250940	1.00[ASN][1000 genomes]
rs16899702	1.00[ASN][1000 genomes]
rs16899745	1.00[ASN][1000 genomes]
rs28515894	1.00[ASN][1000 genomes]
rs4301438	1.00[ASN][1000 genomes]
rs57360261	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59780127	1.00[ASN][1000 genomes]
rs60490907	1.00[ASN][1000 genomes]
rs60740213	1.00[ASN][1000 genomes]
rs61105996	1.00[ASN][1000 genomes]
rs61446370	1.00[ASN][1000 genomes]
rs61712455	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72716935	1.00[ASN][1000 genomes]
rs73341805	1.00[ASN][1000 genomes]
rs73341837	1.00[ASN][1000 genomes]
rs73341838	1.00[ASN][1000 genomes]
rs73341884	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73343904	1.00[ASN][1000 genomes]
rs73343908	1.00[ASN][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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
3	chr8:125626400-125638800	Weak transcription	HMEC	breast
4	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
5	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
6	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
7	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
9	chr8:125631400-125636200	Enhancers	Spleen	Spleen
10	chr8:125631800-125635800	Enhancers	Adipose Nuclei	Adipose
11	chr8:125631800-125636000	Enhancers	Brain Germinal Matrix	brain
12	chr8:125631800-125638200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:125631800-125638400	Weak transcription	Esophagus	oesophagus
14	chr8:125631800-125639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:125631800-125639200	Weak transcription	Pancreas	Pancrea
16	chr8:125631800-125639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:125632000-125638600	Weak transcription	NHEK	skin
18	chr8:125632200-125638800	Weak transcription	Gastric	stomach
19	chr8:125632400-125640200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:125632400-125640600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:125632800-125636400	Weak transcription	Fetal Intestine Small	intestine
22	chr8:125633000-125636600	Weak transcription	Brain Angular Gyrus	brain
23	chr8:125633200-125636600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:125633400-125636400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:125633400-125636800	Weak transcription	Brain Substantia Nigra	brain
26	chr8:125633400-125637000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:125633400-125637600	Weak transcription	Fetal Stomach	stomach
28	chr8:125633400-125638000	Weak transcription	Fetal Lung	lung
29	chr8:125633400-125639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:125633400-125639600	Weak transcription	NHDF-Ad	bronchial
31	chr8:125633400-125643200	Weak transcription	Fetal Kidney	kidney
32	chr8:125633600-125636400	Weak transcription	Brain Anterior Caudate	brain
33	chr8:125633600-125636400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:125633800-125636200	Weak transcription	Lung	lung
35	chr8:125633800-125636400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:125633800-125636400	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:125633800-125636800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:125633800-125637400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:125633800-125637600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:125633800-125638200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:125633800-125638600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:125633800-125638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:125633800-125639200	Weak transcription	Stomach Mucosa	stomach
44	chr8:125633800-125639600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:125633800-125641000	Weak transcription	Osteobl	bone
46	chr8:125633800-125642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:125634200-125636000	Weak transcription	Fetal Brain Female	brain
48	chr8:125634200-125636200	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:125634200-125638000	Weak transcription	Psoas Muscle	Psoas
50	chr8:125634200-125639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links