Variant report

Variant	rs831635
Chromosome Location	chr11:33739718-33739719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33737945..33740866-chr11:33849483..33851287,2	MCF-7	breast:
2	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
3	chr11:33737769..33742301-chr11:33743570..33746479,4	K562	blood:
4	chr11:33738010..33741280-chr11:33742566..33747348,4	MCF-7	breast:
5	chr11:33735021..33736999-chr11:33738619..33740125,2	K562	blood:
6	chr11:33564733..33567080-chr11:33738231..33740368,2	K562	blood:

Variant related genes	Relation type
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1096561	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11032363	1.00[YRI][hapmap]
rs11032372	0.81[ASN][1000 genomes]
rs11032380	1.00[YRI][hapmap]
rs12224154	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs12420267	1.00[YRI][hapmap]
rs12806824	0.80[CEU][hapmap]
rs1402953	1.00[YRI][hapmap]
rs1718067	0.80[CEU][hapmap]
rs17761158	1.00[YRI][hapmap]
rs2252927	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3181274	1.00[YRI][hapmap]
rs4348870	0.80[CEU][hapmap]
rs4755340	1.00[YRI][hapmap]
rs7046	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs704697	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs831611	0.81[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs831617	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs831618	0.80[CEU][hapmap];0.80[CHB][hapmap];0.81[EUR][1000 genomes]
rs831625	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs831629	1.00[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs831631	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs831633	0.95[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs861256	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs831635	CD59	cis	Esophagus Muscularis	GTEx
rs831635	CD59	cis	Artery Tibial	GTEx
rs831635	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33723000-33746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:33723200-33744400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:33723200-33744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:33723400-33741400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:33726400-33739800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:33726800-33741400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:33728200-33744000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:33728400-33744600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:33728600-33745000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:33729200-33740000	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:33729200-33742400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:33729200-33743200	Strong transcription	GM12878-XiMat	blood
17	chr11:33729800-33742400	Strong transcription	Osteobl	bone
18	chr11:33731000-33741400	Weak transcription	Fetal Brain Male	brain
19	chr11:33731800-33741200	Weak transcription	Ovary	ovary
20	chr11:33732000-33743000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:33732000-33745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:33732000-33746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:33733400-33744200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:33733800-33744200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:33733800-33744600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:33734000-33742000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:33734200-33741400	Weak transcription	Fetal Kidney	kidney
28	chr11:33734800-33744800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:33735400-33743000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:33735600-33742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:33735800-33741200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:33735800-33741200	Strong transcription	NH-A	brain
33	chr11:33735800-33743000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:33735800-33743000	Weak transcription	Fetal Heart	heart
35	chr11:33736000-33744000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:33736400-33743400	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr11:33736800-33742800	Genic enhancers	Hela-S3	cervix
38	chr11:33736800-33743600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:33737000-33740000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:33737000-33742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:33737000-33743200	Strong transcription	Lung	lung
42	chr11:33737000-33744000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:33737000-33744000	Strong transcription	Fetal Intestine Large	intestine
44	chr11:33737000-33745000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:33737200-33740200	Genic enhancers	HUVEC	blood vessel
46	chr11:33737200-33743200	Weak transcription	Right Atrium	heart
47	chr11:33737200-33743400	Strong transcription	K562	blood
48	chr11:33737200-33743800	Strong transcription	Liver	Liver
49	chr11:33737400-33740000	Strong transcription	Thymus	Thymus
50	chr11:33737400-33742400	Strong transcription	Fetal Brain Female	brain

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