Variant report

Variant	rs28618327
Chromosome Location	chr4:99441090-99441091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10030622	0.96[AMR][1000 genomes]
rs17027701	0.83[AMR][1000 genomes]
rs1881450	1.00[ASN][1000 genomes]
rs28784902	0.96[AMR][1000 genomes]
rs4699347	0.83[AMR][1000 genomes]
rs4699649	0.91[AMR][1000 genomes]
rs6532743	0.87[AMR][1000 genomes]
rs6824330	0.83[AMR][1000 genomes]
rs7691924	0.83[AMR][1000 genomes]
rs8180171	0.96[AMR][1000 genomes]
rs9991048	0.90[AMR][1000 genomes];0.96[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:71 , 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	chr4:99438400-99441200	Enhancers	Brain Anterior Caudate	brain
16	chr4:99438400-99443200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:99438600-99441400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:99438600-99441600	Enhancers	Brain Angular Gyrus	brain
19	chr4:99438800-99443400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:99438800-99452000	Enhancers	Fetal Heart	heart
21	chr4:99439000-99441600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:99439000-99442600	Weak transcription	HMEC	breast
23	chr4:99439000-99442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:99439000-99443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:99439200-99441200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:99439200-99441400	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:99439200-99441600	Enhancers	Fetal Lung	lung
28	chr4:99439200-99441800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:99439200-99442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:99439200-99442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:99439200-99442600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:99439200-99443200	Enhancers	NH-A	brain
33	chr4:99439400-99441600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:99439400-99441600	Enhancers	Fetal Muscle Leg	muscle
35	chr4:99439400-99443200	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:99439600-99441200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:99439600-99441400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr4:99439600-99445800	Enhancers	Ovary	ovary
39	chr4:99439800-99441200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr4:99439800-99441400	Enhancers	Fetal Thymus	thymus
41	chr4:99439800-99441800	Enhancers	Spleen	Spleen
42	chr4:99439800-99443800	Weak transcription	Fetal Brain Female	brain
43	chr4:99440000-99441400	Enhancers	HSMM	muscle
44	chr4:99440000-99441600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:99440000-99442200	Weak transcription	NHEK	skin
46	chr4:99440000-99442800	Weak transcription	A549	lung
47	chr4:99440200-99442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:99440200-99442600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:99440200-99442600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:99440200-99443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links