Variant report

Variant	rs7950461
Chromosome Location	chr11:10310805-10310806
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10309394..10311600-chr11:10314079..10317064,2	K562	blood:
2	chr11:10308390..10310573-chr11:10310763..10312944,2	MCF-7	breast:
3	chr11:10310003..10312176-chr11:10314204..10316656,4	MCF-7	breast:
4	chr11:10309577..10311734-chr11:10321406..10323896,2	K562	blood:
5	chr11:10309394..10313803-chr11:10314307..10318397,4	K562	blood:
6	chr11:10305502..10307522-chr11:10309769..10312010,2	K562	blood:

Variant related genes	Relation type
ENSG00000133812	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10500722	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10500724	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10743131	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10743133	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10770104	0.88[EUR][1000 genomes]
rs10770105	0.86[ASN][1000 genomes]
rs10770106	0.81[ASN][1000 genomes]
rs10840380	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10840381	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840382	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840385	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042687	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042702	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042703	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042712	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042714	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042716	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042719	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042721	0.85[ASN][1000 genomes]
rs11602090	0.87[EUR][1000 genomes]
rs11607174	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12279861	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12290748	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12418494	0.81[ASN][1000 genomes]
rs12419593	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442738	0.88[EUR][1000 genomes]
rs2044143	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044144	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2060658	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2083715	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2083716	0.88[EUR][1000 genomes]
rs2083717	0.83[EUR][1000 genomes]
rs34051776	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34087225	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34692066	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34739790	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35737881	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36167833	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36170347	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4267063	0.83[EUR][1000 genomes]
rs4323860	0.81[EUR][1000 genomes]
rs4418806	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4442543	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4459296	0.83[ASN][1000 genomes]
rs4482025	0.87[EUR][1000 genomes]
rs4597056	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910097	0.82[EUR][1000 genomes]
rs4910107	0.88[EUR][1000 genomes]
rs4910108	0.89[EUR][1000 genomes]
rs4910115	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55933041	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56063978	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56776911	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6484147	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6484148	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6484152	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6484160	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484161	0.85[ASN][1000 genomes]
rs7106998	0.85[EUR][1000 genomes]
rs7107040	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7107290	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7107399	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7107951	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7108358	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7110652	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7115944	0.88[EUR][1000 genomes]
rs7116147	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7118500	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123728	0.82[EUR][1000 genomes]
rs716803	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs726102	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7479039	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7924631	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7938543	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7944706	0.83[EUR][1000 genomes]
rs7945930	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947666	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7952105	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9735682	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7950461	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10279000-10311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:10290000-10313400	Weak transcription	Fetal Brain Male	brain
3	chr11:10291200-10313600	Weak transcription	NHEK	skin
4	chr11:10291200-10314400	Weak transcription	HSMM	muscle
5	chr11:10294200-10311400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:10298200-10313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:10299400-10314800	Weak transcription	Small Intestine	intestine
8	chr11:10299800-10314400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:10304000-10312400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:10306400-10313800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:10306600-10314400	Weak transcription	Brain Germinal Matrix	brain
12	chr11:10306600-10314800	Weak transcription	Aorta	Aorta
13	chr11:10306800-10311000	Weak transcription	Ovary	ovary
14	chr11:10307000-10313800	Weak transcription	Psoas Muscle	Psoas
15	chr11:10307000-10314400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:10307200-10313400	Weak transcription	Fetal Kidney	kidney
17	chr11:10307200-10313400	Weak transcription	HUVEC	blood vessel
18	chr11:10307200-10313800	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:10307200-10314400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:10307400-10311600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:10307400-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:10307400-10313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:10307400-10313400	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:10307600-10311400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:10307600-10311800	Weak transcription	Fetal Lung	lung
26	chr11:10307600-10313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:10307600-10314400	Weak transcription	Primary B cells from cord blood	blood
28	chr11:10307600-10314400	Weak transcription	Brain Angular Gyrus	brain
29	chr11:10307800-10313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:10307800-10314400	Weak transcription	Liver	Liver
31	chr11:10308200-10314400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:10308400-10311200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:10308400-10313800	Weak transcription	Fetal Thymus	thymus
34	chr11:10308400-10314400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:10308600-10311200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:10308600-10312200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:10308600-10314400	Weak transcription	NH-A	brain
38	chr11:10308800-10311400	Enhancers	Right Atrium	heart
39	chr11:10308800-10312200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:10308800-10313200	Weak transcription	Fetal Heart	heart
41	chr11:10308800-10313200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:10308800-10314600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:10308800-10315000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:10309000-10311800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:10309000-10312000	Weak transcription	Dnd41	blood
46	chr11:10309000-10312200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:10309000-10312200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:10309200-10311200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:10309200-10311200	Weak transcription	Brain Anterior Caudate	brain
50	chr11:10309200-10311600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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