Variant report

Variant	rs280595
Chromosome Location	chr4:129942608-129942609
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11934740	0.91[ASN][1000 genomes]
rs1757936	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs280594	0.94[AFR][1000 genomes]
rs28711799	0.91[ASN][1000 genomes]
rs3113490	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6812361	0.91[ASN][1000 genomes]
rs6824219	0.91[ASN][1000 genomes]
rs7671508	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs789982	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs280595	C4orf33	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129932000-129944000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:129932200-129947000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:129934200-129944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:129934600-129944200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:129934600-129944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:129935600-129943400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:129935800-129943800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:129935800-129944400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:129936000-129943400	Weak transcription	Fetal Heart	heart
10	chr4:129936800-129942800	Weak transcription	Placenta	Placenta
11	chr4:129936800-129943800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:129936800-129944000	Weak transcription	NHLF	lung
13	chr4:129937000-129942800	Weak transcription	Colonic Mucosa	Colon
14	chr4:129937000-129943000	Weak transcription	Brain Angular Gyrus	brain
15	chr4:129937200-129942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:129937200-129943200	Weak transcription	Fetal Lung	lung
17	chr4:129937200-129964000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:129937800-129943800	Weak transcription	Adipose Nuclei	Adipose
19	chr4:129937800-129947000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:129939200-129943200	Weak transcription	A549	lung
21	chr4:129939200-129943600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:129941200-129943800	Weak transcription	Small Intestine	intestine
23	chr4:129941200-129945600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:129941200-129945800	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:129941400-129943000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:129941400-129943400	ZNF genes & repeats	Fetal Thymus	thymus
27	chr4:129941400-129943600	Strong transcription	Primary T cells from cord blood	blood
28	chr4:129941400-129944400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr4:129941400-129945000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:129941600-129942800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:129941600-129943000	Strong transcription	Ovary	ovary
32	chr4:129941600-129943200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:129942000-129942800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:129942000-129943000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr4:129942000-129943000	ZNF genes & repeats	GM12878-XiMat	blood
36	chr4:129942000-129943200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr4:129942000-129943200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:129942000-129943200	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr4:129942000-129943200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr4:129942000-129943200	Strong transcription	Right Ventricle	heart
41	chr4:129942000-129944200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr4:129942000-129944600	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr4:129942200-129942800	Strong transcription	Gastric	stomach
44	chr4:129942200-129942800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:129942200-129942800	ZNF genes & repeats	Spleen	Spleen
46	chr4:129942200-129943000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:129942200-129943000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:129942200-129943000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:129942200-129943000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:129942200-129943000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links