Variant report

Variant	rs17027645
Chromosome Location	chr4:99438495-99438496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1528548	1.00[AFR][1000 genomes]
rs17027639	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17027662	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:99417800-99438600	Weak transcription	Right Atrium	heart
3	chr4:99431200-99439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
5	chr4:99431800-99438600	Weak transcription	Stomach Mucosa	stomach
6	chr4:99432200-99438600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:99432800-99439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:99433000-99443200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:99434000-99441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:99434200-99440000	Enhancers	NHEK	skin
11	chr4:99434400-99443800	Weak transcription	Aorta	Aorta
12	chr4:99435400-99439000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:99435600-99438600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:99435600-99438600	Enhancers	Fetal Lung	lung
15	chr4:99435600-99438600	Enhancers	Ovary	ovary
16	chr4:99435600-99439000	Enhancers	HMEC	breast
17	chr4:99435600-99439000	Enhancers	K562	blood
18	chr4:99435600-99440800	Enhancers	Brain Hippocampus Middle	brain
19	chr4:99435600-99441800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:99436200-99439200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:99436200-99440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:99436200-99441800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:99436200-99441800	Enhancers	NHDF-Ad	bronchial
24	chr4:99436400-99439000	Enhancers	Fetal Muscle Leg	muscle
25	chr4:99436400-99439600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:99436400-99439600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:99436400-99440400	Enhancers	HUVEC	blood vessel
28	chr4:99436400-99440800	Enhancers	Fetal Stomach	stomach
29	chr4:99436600-99438800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:99436600-99439000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:99436600-99439600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:99436600-99439800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:99436600-99439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:99436600-99439800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:99436600-99439800	Weak transcription	Fetal Thymus	thymus
36	chr4:99436600-99441400	Enhancers	NHLF	lung
37	chr4:99436600-99443600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:99436600-99446400	Weak transcription	Left Ventricle	heart
39	chr4:99436800-99439200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:99436800-99439600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:99436800-99439800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:99436800-99439800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:99436800-99439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:99437000-99438600	Enhancers	Lung	lung
45	chr4:99437000-99439600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:99437000-99439800	Weak transcription	Spleen	Spleen
47	chr4:99437000-99441400	Enhancers	Brain Cingulate Gyrus	brain
48	chr4:99437200-99438600	Flanking Active TSS	NH-A	brain
49	chr4:99437200-99439000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr4:99437200-99439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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