Variant report

Variant	rs3805648
Chromosome Location	chr5:127744825-127744826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs186685	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv599698	chr5:127744825-127850855	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:127736400-127745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
7	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
8	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:127742600-127745800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:127742600-127746000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:127743000-127745600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127743000-127745600	Weak transcription	NHLF	lung
14	chr5:127743000-127749200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:127743000-127760400	Weak transcription	A549	lung
16	chr5:127743200-127746800	Weak transcription	Fetal Stomach	stomach
17	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:127743800-127745600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:127743800-127746000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:127744200-127745200	Enhancers	Right Ventricle	heart
21	chr5:127744200-127745400	Enhancers	Fetal Brain Male	brain
22	chr5:127744200-127746000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:127744200-127746000	Enhancers	NH-A	brain
24	chr5:127744200-127746400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:127744400-127745400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:127744400-127745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127744400-127746000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:127744400-127746000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:127744400-127746800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:127744400-127746800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:127744400-127746800	Enhancers	Fetal Heart	heart
32	chr5:127744400-127746800	Weak transcription	Placenta	Placenta
33	chr5:127744400-127747200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:127744600-127745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:127744600-127745000	Weak transcription	HMEC	breast
37	chr5:127744600-127745600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:127744600-127745600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:127744600-127746200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:127744600-127746600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:127744600-127746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127744600-127747000	Enhancers	NHEK	skin
43	chr5:127744800-127745200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:127744800-127745400	Enhancers	Fetal Kidney	kidney
45	chr5:127744800-127745800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:127744800-127746000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:127744800-127746200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links