Variant report

Variant	rs2219632
Chromosome Location	chr5:127658270-127658271
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]
rs17108070	0.85[ASN][1000 genomes]
rs28636864	0.85[ASN][1000 genomes]
rs74037652	0.85[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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127612800-127662400	Weak transcription	HUVEC	blood vessel
3	chr5:127614600-127661000	Weak transcription	Fetal Kidney	kidney
4	chr5:127622800-127662000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:127624600-127663600	Weak transcription	A549	lung
6	chr5:127625000-127662200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:127626000-127664400	Weak transcription	Right Ventricle	heart
8	chr5:127626600-127664200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:127636600-127661800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:127640200-127661400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:127640600-127662000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:127641400-127664000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:127641600-127661800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:127641800-127660200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:127645000-127662400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:127645200-127661200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:127645200-127661400	Weak transcription	NH-A	brain
19	chr5:127645200-127662400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:127645200-127664200	Weak transcription	Ovary	ovary
21	chr5:127645800-127662400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:127647000-127661000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:127647400-127661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:127647400-127662400	Weak transcription	Fetal Lung	lung
25	chr5:127648600-127664200	Weak transcription	Left Ventricle	heart
26	chr5:127652800-127661000	Weak transcription	Fetal Heart	heart
27	chr5:127653600-127661200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:127654000-127660600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:127654000-127661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:127654000-127661800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:127654000-127661800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:127654000-127662200	Weak transcription	Fetal Stomach	stomach
33	chr5:127654000-127662400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:127654200-127661800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:127654800-127661200	Weak transcription	Placenta	Placenta
36	chr5:127655000-127661200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:127655000-127661200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:127655000-127661600	Weak transcription	HMEC	breast
39	chr5:127655600-127662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:127655600-127667000	Weak transcription	NHEK	skin
41	chr5:127656000-127659200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:127656200-127659200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:127656200-127659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:127656200-127660600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:127656400-127661800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links