Variant report

Variant	rs831614
Chromosome Location	chr11:33721419-33721420
allele	C/G
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	MXI1	chr11:33720823-33721891	HepG2	liver:	n/a	chr11:33721282-33721297
2	CEBPB	chr11:33721113-33721511	HepG2	liver:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
3	POLR2A	chr11:33721366-33723085	H1-neurons	neurons:	n/a	n/a
4	HDAC2	chr11:33721089-33721785	HepG2	liver:	n/a	n/a
5	USF2	chr11:33720990-33721710	HepG2	liver:	n/a	n/a
6	RAD21	chr11:33721213-33721562	HepG2	liver:	n/a	n/a
7	MAX	chr11:33720934-33721476	K562	blood:	n/a	n/a
8	POLR2A	chr11:33720881-33722003	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:33720956-33721657	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:33721096-33721788	U87	brain:	n/a	n/a
11	MYC	chr11:33720831-33721783	NB4	blood:	n/a	n/a
12	POLR2A	chr11:33721319-33721714	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:33721313-33723788	HUVEC	blood vessel:	n/a	n/a
14	TBP	chr11:33720853-33721708	HepG2	liver:	n/a	n/a
15	REST	chr11:33721156-33721544	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:33720836-33722023	PANC-1	pancreas:	n/a	n/a
17	MAFF	chr11:33721355-33721574	K562	blood:	n/a	n/a
18	ELF1	chr11:33721180-33721520	HepG2	liver:	n/a	n/a
19	MAZ	chr11:33720961-33721794	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:33721261-33721767	HepG2	liver:	n/a	n/a
21	CHD2	chr11:33721172-33721860	HepG2	liver:	n/a	chr11:33721611-33721621
22	YY1	chr11:33721068-33721505	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:33720749-33723814	HepG2	liver:	n/a	n/a
24	HEY1	chr11:33721033-33721825	HepG2	liver:	n/a	n/a
25	CEBPD	chr11:33721060-33721629	HepG2	liver:	n/a	n/a
26	HEY1	chr11:33720917-33721925	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:33721397-33721620	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:33720710-33723657	HepG2	liver:	n/a	n/a
29	MAFK	chr11:33721209-33721558	HepG2	liver:	n/a	n/a
30	JUND	chr11:33720953-33721596	HepG2	liver:	n/a	n/a
31	RCOR1	chr11:33721340-33721595	K562	blood:	n/a	n/a
32	RXRA	chr11:33721081-33721621	HepG2	liver:	n/a	chr11:33721473-33721486 chr11:33721473-33721486 chr11:33721473-33721486
33	MAFK	chr11:33721033-33721659	HepG2	liver:	n/a	n/a
34	EP300	chr11:33720916-33721710	HepG2	liver:	n/a	n/a
35	HDAC2	chr11:33721049-33721643	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:33721035-33723613	HepG2	liver:	n/a	n/a
37	CEBPB	chr11:33720963-33721644	HepG2	liver:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
38	MAZ	chr11:33721273-33721596	K562	blood:	n/a	n/a
39	CEBPB	chr11:33721173-33721484	IMR90	lung:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
40	EP300	chr11:33721055-33721674	HepG2	liver:	n/a	n/a
41	ARID3A	chr11:33720951-33721633	HepG2	liver:	n/a	n/a
42	CEBPB	chr11:33721057-33721662	HepG2	liver:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
43	CEBPB	chr11:33721156-33721478	K562	blood:	n/a	chr11:33721313-33721326 chr11:33721313-33721324 chr11:33721315-33721326
44	CEBPD	chr11:33721148-33721424	HepG2	liver:	n/a	n/a
45	SMARCB1	chr11:33721094-33722731	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr11:33721071-33721906	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:33721154-33721852	HepG2	liver:	n/a	n/a
48	EP300	chr11:33720892-33721916	HepG2	liver:	n/a	n/a
49	MYC	chr11:33721107-33721445	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:33721095-33724992	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33720959..33721744-chr18:47018091..47018871,2	NB4	blood:
2	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:
3	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
4	chr11:33720036..33722677-chr11:33824670..33827365,2	K562	blood:
5	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
6	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
7	chr11:33718791..33721671-chr11:33742848..33744995,2	K562	blood:

Variant related genes	Relation type
ENSG00000255202	TF binding region
ENSG00000255169	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000271982	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000265681	Chromatin interaction
ENSG00000254508	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs704700	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs831610	0.83[ASN][1000 genomes]
rs831619	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs831628	0.84[AMR][1000 genomes]
rs831632	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs831637	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831614	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33709200-33721800	Enhancers	HMEC	breast
2	chr11:33709600-33722200	Enhancers	Stomach Mucosa	stomach
3	chr11:33713400-33721800	Enhancers	NHEK	skin
4	chr11:33714000-33721600	Weak transcription	Aorta	Aorta
5	chr11:33714600-33721600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:33716600-33721600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:33716800-33721600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:33717200-33721600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:33717800-33721800	Enhancers	Placenta	Placenta
10	chr11:33718000-33721600	Enhancers	Gastric	stomach
11	chr11:33718000-33722200	Weak transcription	Fetal Kidney	kidney
12	chr11:33718200-33722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:33718400-33721600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:33718600-33721600	Enhancers	NHDF-Ad	bronchial
16	chr11:33718600-33722000	Enhancers	Pancreas	Pancrea
17	chr11:33718800-33721600	Enhancers	Osteobl	bone
18	chr11:33719000-33721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:33719000-33721600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:33719000-33721600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:33719400-33721600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:33719600-33721600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:33719600-33722600	Enhancers	HUVEC	blood vessel
24	chr11:33719800-33721600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:33719800-33721600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:33720200-33721600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:33720200-33721600	Weak transcription	Small Intestine	intestine
28	chr11:33720800-33721600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:33720800-33721600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:33720800-33721600	Enhancers	Colonic Mucosa	Colon
31	chr11:33720800-33721600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:33720800-33721600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:33720800-33721600	Enhancers	HSMM	muscle
34	chr11:33720800-33721800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:33720800-33721800	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:33720800-33721800	Enhancers	Ovary	ovary
37	chr11:33720800-33721800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:33720800-33721800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:33720800-33721800	Flanking Active TSS	HepG2	liver
40	chr11:33720800-33722600	Weak transcription	Fetal Lung	lung
41	chr11:33720800-33723600	Enhancers	Spleen	Spleen
42	chr11:33721000-33721600	Enhancers	Esophagus	oesophagus
43	chr11:33721000-33721600	Enhancers	Fetal Muscle Trunk	muscle
44	chr11:33721000-33721600	Enhancers	Left Ventricle	heart
45	chr11:33721000-33721600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:33721000-33721600	Enhancers	A549	lung
47	chr11:33721000-33721800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr11:33721000-33721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:33721000-33721800	Enhancers	Psoas Muscle	Psoas
50	chr11:33721000-33722000	Enhancers	Hela-S3	cervix

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