Variant report

Variant	rs831631
Chromosome Location	chr11:33741565-33741566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:33741067-33741575	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr11:33741033-33741762	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:33740050-33741804	A549	lung:	n/a	n/a
4	HA-E2F1	chr11:33740996-33741716	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:33741173-33741664	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr11:33740848-33741611	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:33741081-33741988	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr11:33740987-33741641	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33730057..33732913-chr11:33741218..33744001,2	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	chr11:33741351..33743266-chr11:33784029..33786297,2	MCF-7	breast:
5	chr11:33278516..33280068-chr11:33740390..33742827,2	MCF-7	breast:
6	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
7	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:

No data

Variant related genes	Relation type
CD59	TF binding region
ENSG00000110422	Chromatin interaction
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1096561	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2252927	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7046	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs704697	0.81[EUR][1000 genomes]
rs831611	0.80[EUR][1000 genomes]
rs831617	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs831618	0.82[EUR][1000 genomes]
rs831625	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs831629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831633	0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831635	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs861256	0.87[AMR][1000 genomes];0.95[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
rs831631	CD59	cis	Artery Tibial	GTEx
rs831631	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831631	CD59	cis	Esophagus Muscularis	GTEx

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	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
8	chr11:33728200-33744000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:33728400-33744600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:33728600-33745000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:33729200-33742400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:33729200-33743200	Strong transcription	GM12878-XiMat	blood
13	chr11:33729800-33742400	Strong transcription	Osteobl	bone
14	chr11:33732000-33743000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:33732000-33745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:33732000-33746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:33733400-33744200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:33733800-33744200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:33733800-33744600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:33734000-33742000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:33734800-33744800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:33735400-33743000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:33735600-33742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:33735800-33743000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr11:33735800-33743000	Weak transcription	Fetal Heart	heart
26	chr11:33736000-33744000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:33736400-33743400	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr11:33736800-33742800	Genic enhancers	Hela-S3	cervix
29	chr11:33736800-33743600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:33737000-33742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:33737000-33743200	Strong transcription	Lung	lung
32	chr11:33737000-33744000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:33737000-33744000	Strong transcription	Fetal Intestine Large	intestine
34	chr11:33737000-33745000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:33737200-33743200	Weak transcription	Right Atrium	heart
36	chr11:33737200-33743400	Strong transcription	K562	blood
37	chr11:33737200-33743800	Strong transcription	Liver	Liver
38	chr11:33737400-33742400	Strong transcription	Fetal Brain Female	brain
39	chr11:33737400-33743200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:33737400-33743400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:33737400-33743800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:33737400-33743800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:33737400-33744000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:33737600-33741600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:33737600-33742800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:33737600-33743600	Weak transcription	Small Intestine	intestine
47	chr11:33737600-33744000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:33737600-33747000	Genic enhancers	HMEC	breast
49	chr11:33737800-33742400	Strong transcription	Fetal Stomach	stomach
50	chr11:33738000-33742600	Strong transcription	Rectal Smooth Muscle	rectum

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