Variant report

Variant	rs28550709
Chromosome Location	chr4:186761238-186761239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10004099	0.86[AFR][1000 genomes]
rs10007894	0.86[AFR][1000 genomes]
rs10023215	0.86[AFR][1000 genomes]
rs28369145	0.86[AFR][1000 genomes]
rs28428970	0.86[AFR][1000 genomes]
rs28502159	0.86[AFR][1000 genomes]
rs28538607	0.86[AFR][1000 genomes]
rs28711225	0.86[AFR][1000 genomes]
rs9990488	0.86[AFR][1000 genomes]
rs9995912	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186756000-186761800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:186756000-186762400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:186756000-186763000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:186756600-186761600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:186756800-186762200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:186757000-186762400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:186757400-186761600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:186757400-186762400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:186757400-186762600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:186757600-186762000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:186757800-186762600	Enhancers	Colon Smooth Muscle	Colon
12	chr4:186758000-186762000	Enhancers	HUVEC	blood vessel
13	chr4:186758400-186762400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:186759000-186761600	Enhancers	NH-A	brain
15	chr4:186759000-186762200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:186759000-186762400	Enhancers	Placenta	Placenta
17	chr4:186759200-186761400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:186759200-186761400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:186759200-186761400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:186759200-186761400	Enhancers	Colonic Mucosa	Colon
21	chr4:186759200-186761400	Enhancers	Right Atrium	heart
22	chr4:186759200-186761400	Enhancers	HMEC	breast
23	chr4:186759200-186762000	Enhancers	Fetal Muscle Leg	muscle
24	chr4:186759200-186762200	Enhancers	Fetal Stomach	stomach
25	chr4:186759200-186762400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:186759200-186762400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:186759200-186762400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr4:186759200-186762400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:186759200-186762400	Enhancers	Left Ventricle	heart
30	chr4:186759200-186762800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:186759200-186762800	Enhancers	Pancreas	Pancrea
32	chr4:186759200-186762800	Enhancers	Right Ventricle	heart
33	chr4:186759200-186762800	Enhancers	NHLF	lung
34	chr4:186759400-186761400	Enhancers	Ovary	ovary
35	chr4:186759400-186761400	Enhancers	NHEK	skin
36	chr4:186759600-186761400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:186759600-186762800	Enhancers	HSMM	muscle
38	chr4:186760000-186761400	Flanking Active TSS	Fetal Heart	heart
39	chr4:186760000-186761400	Enhancers	Fetal Intestine Large	intestine
40	chr4:186760000-186761400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr4:186760200-186761400	Enhancers	Hela-S3	cervix
42	chr4:186760200-186762600	Enhancers	HSMMtube	muscle
43	chr4:186760200-186767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:186760400-186762400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:186760400-186762400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:186760400-186762600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:186760800-186761400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:186760800-186761400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:186760800-186761400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:186760800-186761400	Enhancers	Fetal Kidney	kidney

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