Variant report

Variant	rs1994628
Chromosome Location	chr4:119890157-119890158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10022588	0.89[AFR][1000 genomes]
rs10022665	0.86[AFR][1000 genomes]
rs1038771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098467	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12502164	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647308	0.86[AFR][1000 genomes]
rs1994629	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4488925	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56225827	0.88[EUR][1000 genomes]
rs6819572	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119879800-119893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119886000-119890600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:119886600-119896800	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:119888200-119890400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:119888200-119890600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:119888200-119890800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:119888400-119890400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:119888400-119890400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:119888400-119890400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:119888400-119890400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:119888400-119890400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:119888400-119890400	Enhancers	Fetal Muscle Leg	muscle
13	chr4:119888400-119890400	Enhancers	Stomach Mucosa	stomach
14	chr4:119888400-119890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:119888400-119890600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:119888400-119890600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:119888400-119890600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:119888400-119890600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:119888400-119890600	Enhancers	HMEC	breast
20	chr4:119888400-119890800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:119888400-119890800	Enhancers	Fetal Intestine Small	intestine
22	chr4:119888400-119890800	Enhancers	Small Intestine	intestine
23	chr4:119888600-119890200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:119888600-119890200	Enhancers	Brain Anterior Caudate	brain
25	chr4:119888600-119890200	Enhancers	Placenta	Placenta
26	chr4:119888600-119890200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:119888600-119890400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:119888600-119890400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:119888600-119890600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:119888600-119890600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:119888600-119890600	Enhancers	Fetal Lung	lung
32	chr4:119888600-119890600	Enhancers	Fetal Stomach	stomach
33	chr4:119888600-119890600	Enhancers	NHEK	skin
34	chr4:119888600-119890800	Enhancers	Fetal Intestine Large	intestine
35	chr4:119888600-119890800	Enhancers	Fetal Kidney	kidney
36	chr4:119888800-119890200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:119888800-119890400	Enhancers	Primary hematopoietic stem cells	blood
38	chr4:119888800-119890400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:119888800-119890400	Enhancers	NHLF	lung
40	chr4:119888800-119890600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:119888800-119890600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr4:119889000-119890400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:119889000-119890800	Enhancers	Fetal Heart	heart
44	chr4:119889200-119890400	Enhancers	Ovary	ovary
45	chr4:119889200-119890600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:119889200-119890600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr4:119889400-119890200	Weak transcription	Right Ventricle	heart
48	chr4:119889400-119890200	Flanking Active TSS	HSMMtube	muscle
49	chr4:119889400-119890400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:119889400-119890400	Enhancers	A549	lung

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