Variant report

Variant	rs4944961
Chromosome Location	chr11:74559481-74559482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74551815..74554454-chr11:74557454..74559608,2	K562	blood:
2	chr11:74547278..74549879-chr11:74556905..74560343,3	K562	blood:
3	chr11:74547278..74549231-chr11:74557755..74560343,2	K562	blood:

Variant related genes	Relation type
ENSG00000166439	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10160410	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10751241	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10793105	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793107	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs10793108	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs10899042	0.81[CHD][hapmap]
rs10899045	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899051	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10899052	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10899053	0.95[JPT][hapmap]
rs10899058	0.95[JPT][hapmap]
rs11236244	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11236281	0.95[JPT][hapmap]
rs11236282	0.95[JPT][hapmap]
rs11236294	0.95[JPT][hapmap]
rs11603294	0.95[JPT][hapmap]
rs12221841	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12223417	0.95[JPT][hapmap]
rs12225372	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12225387	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12419113	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12419929	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12421899	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12574850	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12575200	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576129	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12577127	0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap]
rs12577614	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1371410	0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap]
rs17133461	0.84[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119028	0.84[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2165162	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2165163	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2298746	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304683	0.84[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3814726	0.88[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4245440	0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap]
rs4387374	0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap]
rs4483614	0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944061	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944947	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs4944950	0.84[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944960	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944963	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs59143825	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59328242	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61671395	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61734374	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61894779	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61894839	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7102619	0.87[AMR][1000 genomes]
rs7103136	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs7105085	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128739	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7396866	0.88[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap]
rs7483351	0.95[JPT][hapmap]
rs7928381	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs919877	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9787775	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9787897	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs4944961	PLEKHB1	cis	cerebellum	SCAN
rs4944961	XRRA1	cis	parietal	SCAN
rs4944961	XRRA1	cis	Whole Blood	GTEx
rs4944961	RP11-147I3.1	cis	Esophagus Muscularis	GTEx
rs4944961	XRRA1	cis	Esophagus Muscularis	GTEx
rs4944961	XRRA1	cis	lung	GTEx
rs4944961	RP11-147I3.1	cis	Muscle Skeletal	GTEx
rs4944961	XRRA1	cis	Muscle Skeletal	GTEx
rs4944961	XRRA1	cis	Esophagus Mucosa	GTEx
rs4944961	KRTAP5-10	cis	parietal	SCAN
rs4944961	RP11-147I3.1	cis	Thyroid	GTEx
rs4944961	PAAF1	cis	parietal	SCAN
rs4944961	XRRA1	cis	cerebellum	SCAN
rs4944961	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs4944961	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs4944961	XRRA1	cis	Thyroid	GTEx
rs4944961	XRRA1	cis	Nerve Tibial	GTEx
rs4944961	RNF169	cis	lymphoblastoid	seeQTL
rs4944961	XRRA1	cis	normal skin	skin_eQTL
rs4944961	XRRA1	cis	Artery Tibial	GTEx
rs4944961	XRRA1	cis	Artery Aorta	GTEx
rs4944961	RNF169	cis	cerebellum	SCAN
rs4944961	XRRA1	cis	Heart Left Ventricle	GTEx
rs4944961	XRRA1	cis	Adipose Subcutaneous	GTEx
rs4944961	XRRA1	cis	lymphoblastoid	GTEx
rs4944961	XRRA1	cis	lymphoblastoid	seeQTL
rs4944961	RP11-147I3.1	cis	lung	GTEx
rs4944961	XRRA1	cis	Stomach	GTEx
rs4944961	XRRA1	cis	lesional skin	skin_eQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74528000-74576400	Weak transcription	Stomach Mucosa	stomach
2	chr11:74538400-74560000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:74543800-74565800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:74544200-74570800	Strong transcription	Duodenum Mucosa	Duodenum
5	chr11:74545600-74564600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:74545600-74568400	Strong transcription	Fetal Intestine Large	intestine
7	chr11:74545800-74559800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:74545800-74560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:74545800-74565000	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:74546000-74566800	Strong transcription	Fetal Stomach	stomach
11	chr11:74547600-74571400	Weak transcription	Fetal Brain Male	brain
12	chr11:74547800-74562800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:74548000-74560600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:74548800-74560200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:74549400-74567600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:74549800-74560400	Weak transcription	Right Atrium	heart
17	chr11:74550600-74564600	Strong transcription	Fetal Intestine Small	intestine
18	chr11:74551000-74568400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:74551600-74560200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:74552000-74559600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:74552600-74559600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:74552600-74560600	Strong transcription	Brain Cingulate Gyrus	brain
23	chr11:74552600-74565400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:74552800-74576800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr11:74553000-74559600	Strong transcription	Brain Germinal Matrix	brain
26	chr11:74553400-74559600	Strong transcription	Liver	Liver
27	chr11:74553800-74569400	Weak transcription	Fetal Heart	heart
28	chr11:74554200-74560400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:74554200-74567600	Weak transcription	Psoas Muscle	Psoas
30	chr11:74554600-74560800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:74554800-74560200	Weak transcription	HSMM	muscle
32	chr11:74554800-74571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:74555800-74559800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:74555800-74560800	Weak transcription	HSMMtube	muscle
35	chr11:74555800-74569800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:74556000-74559800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:74556200-74559800	Weak transcription	NHDF-Ad	bronchial
38	chr11:74556200-74560600	Weak transcription	Brain Substantia Nigra	brain
39	chr11:74556200-74560800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:74556200-74561600	Weak transcription	GM12878-XiMat	blood
41	chr11:74556800-74560200	Weak transcription	NH-A	brain
42	chr11:74556800-74562000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:74556800-74562400	Weak transcription	Hela-S3	cervix
44	chr11:74557200-74560200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:74557200-74560600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:74557200-74561800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:74557200-74562800	Weak transcription	K562	blood
48	chr11:74557400-74560200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:74557800-74560400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:74558000-74560000	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links