Variant report

Variant	rs4975267
Chromosome Location	chr4:129744992-129744993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10008927	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12512715	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120702	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13143771	0.82[ASN][1000 genomes]
rs1841259	0.82[ASN][1000 genomes]
rs1841260	0.84[ASN][1000 genomes]
rs2162126	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2217023	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs318500	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318501	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318502	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318503	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs318513	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs318517	0.85[ASN][1000 genomes]
rs318521	0.84[ASN][1000 genomes]
rs4975265	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4975269	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975274	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62317870	0.84[ASN][1000 genomes]
rs6817004	0.82[ASN][1000 genomes]
rs6834108	0.82[ASN][1000 genomes]
rs6847753	0.85[ASN][1000 genomes]
rs6857659	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7687562	0.91[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	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	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4975267	C4orf33	cis	Artery Tibial	GTEx
rs4975267	C4orf33	Cis_1M	lymphoblastoid	RTeQTL
rs4975267	PHF17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129734200-129746200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:129734200-129746200	Weak transcription	Ovary	ovary
3	chr4:129734200-129746800	Weak transcription	Fetal Stomach	stomach
4	chr4:129734200-129747000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:129734400-129745600	Weak transcription	Fetal Intestine Large	intestine
6	chr4:129734400-129746000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:129734400-129746000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:129734400-129746200	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:129734400-129751600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:129734400-129756400	Weak transcription	Aorta	Aorta
11	chr4:129734600-129745600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:129734600-129746400	Weak transcription	Right Ventricle	heart
13	chr4:129735000-129747000	Weak transcription	Primary B cells from cord blood	blood
14	chr4:129735200-129746400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:129735400-129748200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:129735400-129752200	Weak transcription	Fetal Brain Female	brain
17	chr4:129738600-129749200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:129740000-129746400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:129740400-129749200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:129740600-129746200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:129740600-129746200	Weak transcription	Right Atrium	heart
22	chr4:129740600-129746600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:129740600-129747000	Weak transcription	Thymus	Thymus
24	chr4:129740800-129746600	Weak transcription	Spleen	Spleen
25	chr4:129740800-129748000	Weak transcription	Liver	Liver
26	chr4:129741000-129746000	Weak transcription	Fetal Intestine Small	intestine
27	chr4:129741000-129746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:129741000-129746400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:129741000-129746400	Weak transcription	Esophagus	oesophagus
30	chr4:129741000-129748600	Weak transcription	Fetal Thymus	thymus
31	chr4:129741200-129745200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:129741200-129745600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:129741200-129745800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr4:129741200-129746000	Weak transcription	Primary T cells from cord blood	blood
35	chr4:129741200-129746000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:129741200-129746200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr4:129741200-129746200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:129741200-129746200	Weak transcription	Left Ventricle	heart
39	chr4:129741200-129746200	Weak transcription	Lung	lung
40	chr4:129741200-129746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:129741200-129746400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:129741200-129746400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr4:129741200-129746400	Weak transcription	Gastric	stomach
44	chr4:129741200-129746600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:129741200-129746600	Weak transcription	Dnd41	blood
46	chr4:129741200-129746800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:129741200-129748000	Weak transcription	HepG2	liver
48	chr4:129741200-129748200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:129741200-129748400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:129741200-129749400	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links