Variant report

Variant	rs4393981
Chromosome Location	chr4:148907033-148907034
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10021991	0.85[YRI][hapmap]
rs10519927	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10519934	0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs17024031	1.00[AMR][1000 genomes]
rs17024193	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs17024201	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024236	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2635265	1.00[AMR][1000 genomes]
rs41320648	0.81[AFR][1000 genomes]
rs41515750	1.00[AMR][1000 genomes]
rs55657699	1.00[AMR][1000 genomes]
rs55771362	1.00[AMR][1000 genomes]
rs55881523	1.00[AFR][1000 genomes]
rs56280979	0.90[AFR][1000 genomes]
rs56320153	0.99[AFR][1000 genomes]
rs56756471	1.00[AMR][1000 genomes]
rs57544959	1.00[AMR][1000 genomes]
rs58028291	1.00[AMR][1000 genomes]
rs58710671	0.88[AFR][1000 genomes]
rs60201372	0.82[AFR][1000 genomes]
rs60280395	1.00[AMR][1000 genomes]
rs60361452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60770463	1.00[AMR][1000 genomes]
rs61300612	1.00[AMR][1000 genomes]
rs73853987	1.00[AMR][1000 genomes]
rs73853992	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853995	0.98[AFR][1000 genomes];1.00[AMR][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	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
2	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
3	chr4:148885800-148912800	Weak transcription	Fetal Lung	lung
4	chr4:148886000-148917600	Weak transcription	Esophagus	oesophagus
5	chr4:148889200-148936200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:148891600-148912800	Weak transcription	Fetal Kidney	kidney
7	chr4:148891600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:148891600-148928000	Weak transcription	A549	lung
9	chr4:148896600-148928400	Weak transcription	Spleen	Spleen
10	chr4:148897200-148917600	Weak transcription	Lung	lung
11	chr4:148898200-148920600	Weak transcription	NHEK	skin
12	chr4:148898200-148925400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:148900800-148911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:148902000-148908400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:148903000-148911200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:148903200-148914800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:148903400-148907600	Weak transcription	HSMM	muscle
18	chr4:148903400-148914600	Weak transcription	HSMMtube	muscle
19	chr4:148903400-148914800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:148903400-148915000	Weak transcription	Osteobl	bone
21	chr4:148905200-148907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:148905400-148907200	Enhancers	Brain Angular Gyrus	brain
23	chr4:148905400-148907200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr4:148905400-148907200	Enhancers	Psoas Muscle	Psoas
25	chr4:148905400-148907400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:148905600-148908600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:148905800-148907400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:148905800-148907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:148905800-148908600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:148905800-148908800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:148905800-148908800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:148905800-148909800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:148905800-148912000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:148905800-148918000	Weak transcription	Stomach Mucosa	stomach
35	chr4:148906000-148907400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:148906000-148907800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:148906000-148907800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:148906000-148908600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:148906000-148909800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:148906000-148912600	Weak transcription	Fetal Heart	heart
41	chr4:148906000-148925200	Weak transcription	Adipose Nuclei	Adipose
42	chr4:148906200-148907200	Enhancers	Brain Anterior Caudate	brain
43	chr4:148906200-148907600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr4:148906400-148907400	Weak transcription	Ovary	ovary
45	chr4:148906400-148928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:148906600-148907200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:148906600-148907200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:148906600-148907200	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr4:148906600-148907600	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:148906600-148907800	Strong transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links