Variant report

Variant	rs575096
Chromosome Location	chr11:73919292-73919293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73688015..73690454-chr11:73918428..73920943,2	K562	blood:
2	chr11:73881244..73885374-chr11:73918118..73920898,3	K562	blood:

Variant related genes	Relation type
ENSG00000214517	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10898954	0.81[EUR][1000 genomes]
rs1614299	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1615115	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1726735	0.88[EUR][1000 genomes]
rs1726744	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1726746	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1726751	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1726752	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1783537	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1790381	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1790398	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1790399	0.89[EUR][1000 genomes]
rs1790404	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3018184	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4453265	0.81[EUR][1000 genomes]
rs474835	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944036	0.81[EUR][1000 genomes]
rs4944038	0.86[EUR][1000 genomes]
rs4944878	0.81[EUR][1000 genomes]
rs500608	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592545	0.81[EUR][1000 genomes]
rs6592551	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7121868	0.81[EUR][1000 genomes]
rs7483884	0.82[EUR][1000 genomes]
rs826039	0.87[EUR][1000 genomes]
rs826056	0.89[EUR][1000 genomes]
rs826061	0.87[EUR][1000 genomes]
rs826062	0.88[EUR][1000 genomes]
rs826066	0.87[EUR][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs575096	P4HA3	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73883600-73921000	Weak transcription	Esophagus	oesophagus
2	chr11:73883600-73923200	Weak transcription	Aorta	Aorta
3	chr11:73883800-73920000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:73883800-73923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:73884200-73920200	Weak transcription	Thymus	Thymus
6	chr11:73884200-73941200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:73884200-73941800	Weak transcription	Small Intestine	intestine
8	chr11:73885600-73920200	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:73885600-73920600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:73885600-73925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:73885600-73957000	Weak transcription	Fetal Brain Male	brain
12	chr11:73885800-73942400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:73891200-73920200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:73891400-73919800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:73891400-73924000	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:73894000-73921600	Weak transcription	Pancreas	Pancrea
17	chr11:73897200-73937600	Weak transcription	Fetal Heart	heart
18	chr11:73897600-73923200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:73897600-73923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:73901000-73920200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:73901600-73938000	Weak transcription	Psoas Muscle	Psoas
22	chr11:73902200-73936200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:73902600-73920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:73902600-73941200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:73903000-73920200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:73903000-73923400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:73903000-73923400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:73903200-73919800	Weak transcription	Brain Germinal Matrix	brain
29	chr11:73903800-73923200	Weak transcription	Gastric	stomach
30	chr11:73903800-73923600	Weak transcription	Right Ventricle	heart
31	chr11:73905200-73941800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:73907400-73941200	Weak transcription	NHDF-Ad	bronchial
33	chr11:73907400-73969200	Weak transcription	HUVEC	blood vessel
34	chr11:73907800-73919800	Weak transcription	Fetal Lung	lung
35	chr11:73908200-73921400	Weak transcription	NHEK	skin
36	chr11:73909400-73928200	Strong transcription	HSMM	muscle
37	chr11:73911000-73923000	Weak transcription	Fetal Intestine Small	intestine
38	chr11:73912200-73920400	Weak transcription	Fetal Kidney	kidney
39	chr11:73913200-73923200	Weak transcription	Brain Substantia Nigra	brain
40	chr11:73913200-73941200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:73913600-73946800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:73913800-73920000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:73913800-73961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:73914000-73920400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:73914000-73921200	Weak transcription	Colonic Mucosa	Colon
46	chr11:73914200-73921400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:73914200-73921800	Strong transcription	Dnd41	blood
48	chr11:73914800-73921800	Strong transcription	Primary B cells from cord blood	blood
49	chr11:73914800-73922000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:73914800-73922600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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