Variant report

Variant	rs7674116
Chromosome Location	chr4:148898388-148898389
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10002792	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10025180	0.85[ASN][1000 genomes]
rs1039660	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10519926	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11945457	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17024212	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17024223	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17024226	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17024235	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2262881	0.84[YRI][hapmap];0.87[ASN][1000 genomes]
rs2306910	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2635259	0.85[ASN][1000 genomes]
rs35133175	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs56834952	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57437177	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60635047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682961	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9684012	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
6	esv3398182	chr4:148895102-148898800	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
2	chr4:148868200-148902600	Weak transcription	NH-A	brain
3	chr4:148885600-148905200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:148885600-148905400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
6	chr4:148885800-148907000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:148885800-148912800	Weak transcription	Fetal Lung	lung
8	chr4:148886000-148917600	Weak transcription	Esophagus	oesophagus
9	chr4:148886800-148901800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:148889000-148905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:148889200-148899400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:148889200-148936200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:148889400-148905400	Weak transcription	NHLF	lung
14	chr4:148891400-148905000	Weak transcription	Stomach Mucosa	stomach
15	chr4:148891400-148905400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:148891600-148905400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:148891600-148912800	Weak transcription	Fetal Kidney	kidney
18	chr4:148891600-148920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:148891600-148928000	Weak transcription	A549	lung
20	chr4:148891800-148901600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:148893800-148901800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:148893800-148901800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:148896200-148898800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:148896400-148898600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr4:148896600-148928400	Weak transcription	Spleen	Spleen
26	chr4:148896800-148898400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:148897000-148898400	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:148897200-148898800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:148897200-148899600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:148897200-148900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:148897200-148902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:148897200-148905200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:148897200-148905400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:148897200-148905400	Weak transcription	Aorta	Aorta
35	chr4:148897200-148905400	Weak transcription	Left Ventricle	heart
36	chr4:148897200-148905400	Weak transcription	Right Atrium	heart
37	chr4:148897200-148905600	Weak transcription	Gastric	stomach
38	chr4:148897200-148917600	Weak transcription	Lung	lung
39	chr4:148897600-148904800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:148898000-148899000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:148898000-148899000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:148898000-148899800	ZNF genes & repeats	GM12878-XiMat	blood
43	chr4:148898000-148901000	Weak transcription	NHDF-Ad	bronchial
44	chr4:148898000-148901600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:148898000-148901600	Weak transcription	HSMM	muscle
46	chr4:148898000-148901800	Weak transcription	Adipose Nuclei	Adipose
47	chr4:148898000-148902000	Weak transcription	Fetal Heart	heart
48	chr4:148898000-148902200	Weak transcription	Osteobl	bone
49	chr4:148898000-148905000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:148898000-148905000	Weak transcription	Stomach Smooth Muscle	stomach

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