Variant report

Variant	rs831611
Chromosome Location	chr11:33719821-33719822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:33719603-33719872	K562	blood:	n/a	chr11:33719772-33719792 chr11:33719731-33719744 chr11:33719738-33719747 chr11:33719847-33719867
2	REST	chr11:33719564-33719891	GM12878	blood:	n/a	chr11:33719772-33719792 chr11:33719731-33719744 chr11:33719738-33719747 chr11:33719847-33719867
3	EBF1	chr11:33719531-33719916	GM12878	blood:	n/a	n/a
4	EBF1	chr11:33719525-33719902	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:33719746-33720083	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr11:33719545-33719851	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:33719532-33720357	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33278338..33280021-chr11:33719224..33721244,2	K562	blood:
2	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
3	chr11:33181371..33183900-chr11:33718625..33721294,2	K562	blood:
4	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
5	chr11:33718280..33720343-chr11:33720792..33722405,2	K562	blood:
6	chr11:33718791..33721671-chr11:33742848..33744995,2	K562	blood:

Variant related genes	Relation type
ENSG00000255202	TF binding region
ENSG00000085063	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000110422	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000247151	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11032363	1.00[YRI][hapmap]
rs11032380	1.00[YRI][hapmap]
rs12224154	1.00[ASW][hapmap]
rs12420267	1.00[YRI][hapmap]
rs1402953	1.00[YRI][hapmap]
rs17761158	1.00[YRI][hapmap]
rs3181274	1.00[YRI][hapmap]
rs4755340	1.00[YRI][hapmap]
rs7046	0.86[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs704697	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs831617	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831618	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs831625	1.00[ASW][hapmap];0.83[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs831629	0.84[GIH][hapmap];0.92[MEX][hapmap];0.80[EUR][1000 genomes]
rs831631	0.80[EUR][1000 genomes]
rs831633	0.80[EUR][1000 genomes]
rs831635	0.81[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs861256	0.83[MEX][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs831611	CD59	cis	Artery Tibial	GTEx
rs831611	CD59	cis	cerebellum	SCAN
rs831611	CD59,C11orf91	cis	frontal cortex	BrainEAC
rs831611	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33709200-33721800	Enhancers	HMEC	breast
2	chr11:33709600-33722200	Enhancers	Stomach Mucosa	stomach
3	chr11:33711800-33720400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:33712000-33720200	Enhancers	Right Ventricle	heart
5	chr11:33713400-33720800	Weak transcription	Spleen	Spleen
6	chr11:33713400-33721800	Enhancers	NHEK	skin
7	chr11:33713800-33720200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:33713800-33720800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:33714000-33721600	Weak transcription	Aorta	Aorta
10	chr11:33714600-33721000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:33714600-33721600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:33714800-33720800	Weak transcription	Ovary	ovary
13	chr11:33714800-33721200	Weak transcription	Fetal Intestine Large	intestine
14	chr11:33715000-33720000	Weak transcription	Fetal Heart	heart
15	chr11:33715600-33720800	Enhancers	HepG2	liver
16	chr11:33716400-33721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:33716600-33721600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:33716800-33721200	Weak transcription	NHLF	lung
19	chr11:33716800-33721600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:33717000-33720200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:33717200-33720800	Weak transcription	HSMM	muscle
22	chr11:33717200-33721200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:33717200-33721200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:33717200-33721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:33717200-33721600	Weak transcription	Brain Angular Gyrus	brain
26	chr11:33717400-33720800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:33717400-33720800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:33717400-33721000	Weak transcription	Hela-S3	cervix
29	chr11:33717400-33721400	Weak transcription	Liver	Liver
30	chr11:33717800-33720800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:33717800-33721400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:33717800-33721800	Enhancers	Placenta	Placenta
33	chr11:33718000-33720000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:33718000-33720200	Enhancers	Psoas Muscle	Psoas
35	chr11:33718000-33721400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:33718000-33721600	Enhancers	Gastric	stomach
37	chr11:33718000-33722200	Weak transcription	Fetal Kidney	kidney
38	chr11:33718200-33721200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:33718200-33721200	Weak transcription	Fetal Brain Male	brain
40	chr11:33718200-33721400	Weak transcription	Brain Anterior Caudate	brain
41	chr11:33718200-33722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:33718400-33720000	Enhancers	A549	lung
43	chr11:33718400-33721600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:33718600-33721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:33718600-33721600	Enhancers	NHDF-Ad	bronchial
47	chr11:33718600-33722000	Enhancers	Pancreas	Pancrea
48	chr11:33718800-33720000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:33718800-33720000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:33718800-33721600	Enhancers	Osteobl	bone

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