Variant report

Variant	rs13123700
Chromosome Location	chr4:99441212-99441213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10002696	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10006366	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10006430	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10025051	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097619	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13108940	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1528547	0.87[ASN][1000 genomes]
rs1919210	0.91[ASN][1000 genomes]
rs2037832	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28886705	0.83[ASN][1000 genomes]
rs4447870	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4699343	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699344	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699345	0.92[ASN][1000 genomes]
rs4699348	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4699639	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699640	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4699644	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699646	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4699648	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6815038	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6823547	0.92[ASN][1000 genomes]
rs6847124	0.82[ASN][1000 genomes]
rs71600251	0.87[ASN][1000 genomes]
rs9760870	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
2	chr4:99433000-99443200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:99434000-99441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:99434400-99443800	Weak transcription	Aorta	Aorta
5	chr4:99435600-99441800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:99436200-99441800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:99436200-99441800	Enhancers	NHDF-Ad	bronchial
8	chr4:99436600-99441400	Enhancers	NHLF	lung
9	chr4:99436600-99443600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:99436600-99446400	Weak transcription	Left Ventricle	heart
11	chr4:99437000-99441400	Enhancers	Brain Cingulate Gyrus	brain
12	chr4:99437200-99443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:99438000-99441800	Enhancers	Osteobl	bone
14	chr4:99438000-99442600	Weak transcription	Dnd41	blood
15	chr4:99438400-99443200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:99438600-99441400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:99438600-99441600	Enhancers	Brain Angular Gyrus	brain
18	chr4:99438800-99443400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:99438800-99452000	Enhancers	Fetal Heart	heart
20	chr4:99439000-99441600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:99439000-99442600	Weak transcription	HMEC	breast
22	chr4:99439000-99442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:99439000-99443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:99439200-99441400	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:99439200-99441600	Enhancers	Fetal Lung	lung
26	chr4:99439200-99441800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:99439200-99442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:99439200-99442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:99439200-99442600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:99439200-99443200	Enhancers	NH-A	brain
31	chr4:99439400-99441600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:99439400-99441600	Enhancers	Fetal Muscle Leg	muscle
33	chr4:99439400-99443200	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:99439600-99441400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:99439600-99445800	Enhancers	Ovary	ovary
36	chr4:99439800-99441400	Enhancers	Fetal Thymus	thymus
37	chr4:99439800-99441800	Enhancers	Spleen	Spleen
38	chr4:99439800-99443800	Weak transcription	Fetal Brain Female	brain
39	chr4:99440000-99441400	Enhancers	HSMM	muscle
40	chr4:99440000-99441600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:99440000-99442200	Weak transcription	NHEK	skin
42	chr4:99440000-99442800	Weak transcription	A549	lung
43	chr4:99440200-99442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:99440200-99442600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:99440200-99442600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:99440200-99443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:99440400-99442400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:99440400-99442600	Weak transcription	Brain Substantia Nigra	brain
49	chr4:99440400-99442600	Weak transcription	HUVEC	blood vessel
50	chr4:99440400-99443400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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