Variant report

Variant	rs935914
Chromosome Location	chr11:47387599-47387600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47386409..47388647-chr11:47428012..47429960,2	K562	blood:
2	chr11:47387142..47389249-chr11:47393503..47395461,2	K562	blood:
3	chr11:47386397..47389250-chr11:47397737..47400604,4	K562	blood:
4	chr11:47387142..47389987-chr11:47393961..47396732,2	K562	blood:

Variant related genes	Relation type
ENSG00000066336	Chromatin interaction
ENSG00000165915	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1057233	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10734557	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10742803	0.91[EUR][1000 genomes]
rs10769258	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769262	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838698	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838699	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838704	0.87[EUR][1000 genomes]
rs10838706	0.92[EUR][1000 genomes]
rs11039195	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039199	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11039200	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039202	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039203	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039219	0.89[EUR][1000 genomes]
rs11600581	0.88[EUR][1000 genomes]
rs11601603	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11605672	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11607981	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12146565	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12802273	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12803525	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1317164	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1542321	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2053979	0.90[EUR][1000 genomes]
rs2053980	0.86[EUR][1000 genomes]
rs2071304	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2084946	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2293577	0.91[EUR][1000 genomes]
rs2293578	0.86[EUR][1000 genomes]
rs2293580	0.90[EUR][1000 genomes]
rs2856661	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2868459	0.81[EUR][1000 genomes]
rs35496532	0.86[EUR][1000 genomes]
rs35996350	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740686	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3781624	0.84[EUR][1000 genomes]
rs3781625	0.88[EUR][1000 genomes]
rs3781626	0.90[EUR][1000 genomes]
rs3781627	0.83[EUR][1000 genomes]
rs4752827	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752832	0.81[EUR][1000 genomes]
rs4752987	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752990	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752993	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752994	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752999	0.90[EUR][1000 genomes]
rs4992357	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55677087	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55876153	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55927797	0.87[EUR][1000 genomes]
rs56030824	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58965622	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60075622	0.88[EUR][1000 genomes]
rs6485753	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485756	0.83[EUR][1000 genomes]
rs67116452	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67472071	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7105851	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107726	0.90[EUR][1000 genomes]
rs7111957	0.83[EUR][1000 genomes]
rs755553	0.91[EUR][1000 genomes]
rs755554	0.91[EUR][1000 genomes]
rs755555	0.87[EUR][1000 genomes]
rs7924485	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7928163	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7928419	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7937331	0.91[EUR][1000 genomes]
rs7940536	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896815	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896816	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs935914	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs935914	C1QTNF4	cis	Muscle Skeletal	GTEx
rs935914	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx
rs935914	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs935914	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs935914	SPI1	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
2	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
8	chr11:47380200-47395200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:47380200-47396600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
11	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:47380400-47389000	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:47380400-47397000	Weak transcription	Lung	lung
14	chr11:47381000-47395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:47382000-47395200	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:47382200-47395200	Weak transcription	Fetal Intestine Small	intestine
18	chr11:47383600-47389000	Genic enhancers	Monocytes-CD14+_RO01746	blood
19	chr11:47383600-47391400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:47385800-47387600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:47385800-47388400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr11:47386000-47395000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:47386000-47395200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:47386000-47396200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:47386200-47394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:47386600-47393400	Weak transcription	Spleen	Spleen
27	chr11:47386800-47395200	Weak transcription	HepG2	liver
28	chr11:47387000-47387600	Weak transcription	GM12878-XiMat	blood
29	chr11:47387000-47388800	Genic enhancers	Primary B cells from cord blood	blood
30	chr11:47387000-47388800	Enhancers	K562	blood

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