Variant report

Variant	rs6857248
Chromosome Location	chr4:48026747-48026748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48016518..48018197-chr4:48024501..48026849,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10517201	1.00[YRI][hapmap]
rs10938519	0.90[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11934632	1.00[YRI][hapmap]
rs12512988	1.00[YRI][hapmap]
rs12513157	1.00[YRI][hapmap]
rs12646088	0.81[CEU][hapmap]
rs17608481	0.86[ASN][1000 genomes]
rs17654591	0.84[CHB][hapmap]
rs17654847	0.86[ASN][1000 genomes]
rs17654859	0.86[ASN][1000 genomes]
rs1992326	1.00[YRI][hapmap]
rs2882949	1.00[YRI][hapmap]
rs55658926	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56001502	0.87[ASN][1000 genomes]
rs60653952	0.86[ASN][1000 genomes]
rs62300323	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6819172	1.00[YRI][hapmap]
rs6820083	0.83[ASN][1000 genomes]
rs73244469	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48027600	Weak transcription	Placenta	Placenta
2	chr4:48019800-48030200	Weak transcription	Psoas Muscle	Psoas
3	chr4:48019800-48033800	Weak transcription	Pancreas	Pancrea
4	chr4:48019800-48033800	Weak transcription	Hela-S3	cervix
5	chr4:48019800-48034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:48019800-48034200	Weak transcription	HepG2	liver
7	chr4:48019800-48043600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
9	chr4:48020000-48029200	Weak transcription	GM12878-XiMat	blood
10	chr4:48020400-48027600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
12	chr4:48021600-48034200	Weak transcription	Stomach Mucosa	stomach
13	chr4:48021800-48026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:48022200-48029800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:48022800-48026800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:48022800-48029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:48023200-48027000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:48023400-48026800	Weak transcription	Liver	Liver
19	chr4:48024600-48027000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:48024600-48027000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:48024600-48043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:48025000-48027000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:48025000-48028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:48025400-48035000	Weak transcription	NHEK	skin
25	chr4:48026200-48026800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:48026200-48028400	Enhancers	Fetal Heart	heart
27	chr4:48026200-48029000	Strong transcription	Fetal Intestine Small	intestine
28	chr4:48026200-48031200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:48026400-48027000	Strong transcription	Fetal Intestine Large	intestine
30	chr4:48026400-48027000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:48026400-48028000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:48026400-48028400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:48026600-48026800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:48026600-48026800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:48026600-48026800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:48026600-48026800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr4:48026600-48027000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:48026600-48027200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:48026600-48027200	Enhancers	Brain Hippocampus Middle	brain
40	chr4:48026600-48027400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:48026600-48027400	Enhancers	Brain Cingulate Gyrus	brain
42	chr4:48026600-48027400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:48026600-48027400	Enhancers	Brain Substantia Nigra	brain
44	chr4:48026600-48027400	Enhancers	NH-A	brain
45	chr4:48026600-48028000	Enhancers	Fetal Muscle Leg	muscle
46	chr4:48026600-48028200	Strong transcription	Gastric	stomach
47	chr4:48026600-48030000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:48026600-48030400	Strong transcription	HMEC	breast

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