Variant report

Variant	rs17023127
Chromosome Location	chr4:96102138-96102139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11724729	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11734284	0.84[EUR][1000 genomes]
rs11736371	1.00[CEU][hapmap]
rs12502687	0.89[EUR][1000 genomes]
rs12505161	0.95[EUR][1000 genomes]
rs12510363	0.95[EUR][1000 genomes]
rs28529331	0.84[EUR][1000 genomes]
rs28666440	1.00[EUR][1000 genomes]
rs28680661	0.95[EUR][1000 genomes]
rs28830496	1.00[EUR][1000 genomes]
rs56738985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57903047	1.00[EUR][1000 genomes]
rs59044097	0.89[EUR][1000 genomes]
rs59241324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96084600-96111800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:96087600-96107000	Weak transcription	A549	lung
3	chr4:96091000-96111600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:96091400-96109400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
6	chr4:96098600-96102200	Weak transcription	Ovary	ovary
7	chr4:96098800-96105200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:96099000-96105400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:96099400-96102200	Weak transcription	Spleen	Spleen
10	chr4:96099400-96109400	Weak transcription	Dnd41	blood
11	chr4:96099600-96102200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
13	chr4:96100200-96102800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:96100600-96103400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:96100800-96102200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:96101000-96102800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:96101000-96104400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:96101200-96102200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:96101200-96102400	Enhancers	K562	blood
20	chr4:96101200-96103400	Enhancers	Brain Cingulate Gyrus	brain
21	chr4:96101200-96103600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:96101400-96103000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:96101600-96102200	Enhancers	HSMMtube	muscle
24	chr4:96101600-96102400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:96101600-96102400	Enhancers	NH-A	brain
26	chr4:96101600-96102800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:96101600-96103000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:96101600-96103200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:96101600-96103200	Enhancers	Primary T cells from cord blood	blood
30	chr4:96101600-96103200	Genic enhancers	Brain Angular Gyrus	brain
31	chr4:96101600-96103600	Genic enhancers	Brain Substantia Nigra	brain
32	chr4:96101600-96104200	Enhancers	Fetal Thymus	thymus
33	chr4:96101600-96106600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr4:96101800-96102200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:96101800-96102400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:96101800-96102400	Enhancers	Brain Anterior Caudate	brain
37	chr4:96101800-96102800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:96101800-96103200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr4:96101800-96103200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:96101800-96103200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr4:96101800-96103400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:96101800-96104200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:96101800-96104200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:96101800-96104400	Strong transcription	Aorta	Aorta
45	chr4:96101800-96104800	Strong transcription	Fetal Stomach	stomach
46	chr4:96102000-96102400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr4:96102000-96102400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:96102000-96102800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:96102000-96102800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:96102000-96103000	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links