Variant report

Variant	rs4944968
Chromosome Location	chr11:74724276-74724277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74697161..74701589-chr11:74722600..74726344,4	K562	blood:
2	chr11:74718195..74720247-chr11:74720638..74725199,4	K562	blood:
3	chr11:74723507..74725888-chr11:74813976..74816359,2	K562	blood:

Variant related genes	Relation type
ENSG00000162139	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10793107	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10793108	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10793112	0.81[AMR][1000 genomes]
rs10899051	0.83[AMR][1000 genomes]
rs10899052	0.83[AMR][1000 genomes]
rs10899053	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899054	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899058	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899059	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899060	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899061	0.81[AMR][1000 genomes]
rs11236281	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236282	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236290	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236294	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236296	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236306	0.86[AFR][1000 genomes]
rs11603294	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12221841	0.81[AMR][1000 genomes]
rs12225372	0.81[AMR][1000 genomes]
rs12419113	0.81[AMR][1000 genomes]
rs12419929	0.81[AMR][1000 genomes]
rs12575200	0.81[AMR][1000 genomes]
rs12577127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12577614	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1371410	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119028	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2165162	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2165163	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4245440	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4387374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944965	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944970	0.81[AMR][1000 genomes]
rs56194145	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59143825	0.81[AMR][1000 genomes]
rs61671395	0.81[AMR][1000 genomes]
rs61894839	0.81[AMR][1000 genomes]
rs7102619	0.82[AMR][1000 genomes]
rs7106757	0.81[AMR][1000 genomes]
rs725460	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7396866	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7483351	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9787775	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9787897	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs4944968	XRRA1	cis	Esophagus Muscularis	GTEx
rs4944968	XRRA1	cis	Esophagus Mucosa	GTEx
rs4944968	XRRA1	cis	Nerve Tibial	GTEx
rs4944968	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs4944968	XRRA1	cis	Stomach	GTEx
rs4944968	RP11-147I3.1	cis	Thyroid	GTEx
rs4944968	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs4944968	XRRA1	cis	Thyroid	GTEx
rs4944968	RP11-147I3.1	cis	Muscle Skeletal	GTEx
rs4944968	XRRA1	cis	Adipose Subcutaneous	GTEx
rs4944968	XRRA1	cis	Muscle Skeletal	GTEx
rs4944968	XRRA1	cis	Whole Blood	GTEx
rs4944968	XRRA1	cis	Heart Left Ventricle	GTEx
rs4944968	XRRA1	cis	lung	GTEx
rs4944968	XRRA1	cis	Artery Aorta	GTEx
rs4944968	XRRA1	cis	Artery Tibial	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74700600-74725000	Weak transcription	HSMMtube	muscle
2	chr11:74712000-74728200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:74714200-74725400	Strong transcription	Dnd41	blood
4	chr11:74714800-74725000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr11:74715600-74725400	Strong transcription	Liver	Liver
6	chr11:74716200-74725600	Strong transcription	Primary T cells from cord blood	blood
7	chr11:74716400-74725600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:74716400-74725600	Strong transcription	Thymus	Thymus
9	chr11:74717400-74724400	Strong transcription	Fetal Thymus	thymus
10	chr11:74717600-74725400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:74717600-74726000	Weak transcription	Esophagus	oesophagus
12	chr11:74718000-74724400	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:74718000-74733800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:74718000-74734200	Weak transcription	Right Ventricle	heart
15	chr11:74718200-74726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:74718200-74726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:74718200-74729200	Weak transcription	Gastric	stomach
18	chr11:74718400-74726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:74718400-74729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:74718600-74725800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:74718800-74724400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:74718800-74726600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:74719000-74725000	Weak transcription	HMEC	breast
24	chr11:74719200-74725000	Weak transcription	Hela-S3	cervix
25	chr11:74719400-74728600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:74720400-74725400	Weak transcription	NH-A	brain
27	chr11:74721000-74724400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:74721000-74724400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:74721000-74724400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:74721000-74726200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:74721200-74724400	Weak transcription	NHLF	lung
32	chr11:74721200-74725000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:74721200-74725000	Weak transcription	NHEK	skin
34	chr11:74721400-74724400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:74721600-74724400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:74721600-74724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:74721600-74724400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:74721600-74724600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:74721600-74724600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:74721600-74724800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:74721600-74725400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:74721600-74726200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:74721600-74733400	Weak transcription	Pancreas	Pancrea
44	chr11:74721600-74734200	Weak transcription	Brain Angular Gyrus	brain
45	chr11:74721600-74734200	Weak transcription	Brain Anterior Caudate	brain
46	chr11:74721600-74734200	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:74721600-74734200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:74721600-74734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:74721800-74724400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:74721800-74724800	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links