Variant report

Variant	rs3935197
Chromosome Location	chr8:125802018-125802019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125798704..125802560-chr8:125827231..125829155,4	K562	blood:
2	chr8:125796403..125800528-chr8:125801363..125805897,4	K562	blood:
3	chr8:125793830..125795727-chr8:125800915..125802469,3	MCF-7	breast:
4	chr8:125798304..125800528-chr8:125800814..125804175,4	K562	blood:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4871545	0.81[AFR][1000 genomes]
rs6980646	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3935197	KLHL38	cis	parietal	SCAN
rs3935197	MTSS1	cis	cerebellum	SCAN
rs3935197	FER1L6	cis	parietal	SCAN
rs3935197	ANXA13	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125797400-125802200	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:125800000-125803400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:125800000-125803800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:125800200-125803400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:125800400-125802200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125800400-125803200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:125801000-125802200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:125801000-125803400	Enhancers	HepG2	liver
9	chr8:125801200-125802200	Weak transcription	Osteobl	bone
10	chr8:125801200-125803000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:125801400-125802600	Weak transcription	HMEC	breast
12	chr8:125801600-125802200	Enhancers	Primary B cells from cord blood	blood
13	chr8:125801600-125803600	Enhancers	NHDF-Ad	bronchial
14	chr8:125801600-125803800	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:125801800-125802200	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:125801800-125802200	Enhancers	Left Ventricle	heart
17	chr8:125801800-125802400	Enhancers	Brain Substantia Nigra	brain
18	chr8:125801800-125802600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:125801800-125802600	Enhancers	Right Atrium	heart
20	chr8:125801800-125802600	Enhancers	Spleen	Spleen
21	chr8:125801800-125803000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:125801800-125803200	Enhancers	K562	blood
23	chr8:125801800-125803400	Enhancers	Fetal Muscle Leg	muscle
24	chr8:125801800-125803600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:125801800-125803600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr8:125801800-125804000	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:125802000-125802600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:125802000-125802600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:125802000-125802600	Enhancers	Fetal Stomach	stomach
30	chr8:125802000-125802600	Enhancers	Ovary	ovary
31	chr8:125802000-125802800	Enhancers	Fetal Thymus	thymus
32	chr8:125802000-125803200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:125802000-125803200	Enhancers	Fetal Lung	lung
34	chr8:125802000-125803200	Enhancers	Placenta	Placenta
35	chr8:125802000-125803600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links