Variant report

Variant	rs831616
Chromosome Location	chr11:33722823-33722824
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	NFATC1	chr11:33722089-33723072	GM12878	blood:	n/a	n/a
2	ARID3A	chr11:33722267-33722977	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:33721866-33724317	U87	brain:	n/a	n/a
4	JUND	chr11:33722178-33722833	K562	blood:	n/a	n/a
5	STAT3	chr11:33722140-33724183	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
6	MAX	chr11:33722033-33724028	A549	lung:	n/a	chr11:33722471-33722481
7	POLR2A	chr11:33721366-33723085	H1-neurons	neurons:	n/a	n/a
8	FOS	chr11:33722672-33723258	MCF10A-Er-Src	breast:	n/a	n/a
9	ZKSCAN1	chr11:33722228-33722832	Hela-S3	cervix:	n/a	n/a
10	REST	chr11:33721876-33723426	H1-neurons	neurons:	n/a	chr11:33722634-33722647 chr11:33722491-33722501 chr11:33722757-33722770
11	POLR2A	chr11:33722077-33723793	U87	brain:	n/a	n/a
12	POLR2A	chr11:33722124-33725044	MCF10A-Er-Src	breast:	n/a	n/a
13	TAF1	chr11:33722130-33723225	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr11:33722042-33723040	SK-N-MC	brain:	n/a	n/a
15	RCOR1	chr11:33722025-33722949	K562	blood:	n/a	n/a
16	SP1	chr11:33722017-33722934	A549	lung:	n/a	chr11:33722471-33722485 chr11:33722375-33722384 chr11:33722552-33722564 chr11:33722470-33722482 chr11:33722374-33722386 chr11:33722470-33722482 chr11:33722376-33722385 chr11:33722471-33722481 chr11:33722552-33722564 chr11:33722374-33722385 chr11:33722511-33722521 chr11:33722472-33722481 chr11:33722471-33722480 chr11:33722395-33722407 chr11:33722510-33722522 chr11:33722374-33722386 chr11:33722375-33722384 chr11:33722395-33722406 chr11:33722511-33722521 chr11:33722471-33722481 chr11:33722510-33722522
17	MAX	chr11:33722061-33722849	SK-N-SH	brain:	n/a	chr11:33722471-33722481
18	TCF7L2	chr11:33722620-33722928	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:33721313-33723788	HUVEC	blood vessel:	n/a	n/a
20	PML	chr11:33722066-33723219	GM12878	blood:	n/a	n/a
21	TBP	chr11:33722255-33722991	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr11:33722059-33722845	PANC-1	pancreas:	n/a	n/a
23	MYC	chr11:33722289-33722867	K562	blood:	n/a	chr11:33722471-33722481
24	POLR2A	chr11:33722085-33723937	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:33722071-33724569	PANC-1	pancreas:	n/a	n/a
26	NR3C1	chr11:33722814-33723753	A549	lung:	n/a	chr11:33723493-33723507 chr11:33723089-33723103
27	FOS	chr11:33722195-33723669	HUVEC	blood vessel:	n/a	n/a
28	RCOR1	chr11:33722562-33722899	K562	blood:	n/a	n/a
29	POLR2A	chr11:33722066-33722918	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:33720749-33723814	HepG2	liver:	n/a	n/a
31	SMC3	chr11:33722266-33723205	Hela-S3	cervix:	n/a	n/a
32	MYC	chr11:33722403-33723852	MCF10A-Er-Src	breast:	n/a	chr11:33722471-33722481
33	POLR2A	chr11:33722295-33722842	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:33722158-33723343	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:33722169-33723489	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:33722062-33723141	HCT-116	colon:	n/a	n/a
37	STAT3	chr11:33722223-33723164	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
38	POLR2A	chr11:33720710-33723657	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:33722150-33723918	MCF10A-Er-Src	breast:	n/a	n/a
40	TAF1	chr11:33722352-33722858	H1-hESC	embryonic stem cell:	n/a	n/a
41	BCL3	chr11:33722525-33723364	A549	lung:	n/a	chr11:33722585-33722598
42	POLR2A	chr11:33722026-33728243	PANC-1	pancreas:	n/a	n/a
43	RAD21	chr11:33722574-33723152	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr11:33722417-33723141	Hela-S3	cervix:	n/a	n/a
45	NR3C1	chr11:33722333-33723779	A549	lung:	n/a	chr11:33723493-33723507 chr11:33722695-33722712 chr11:33723089-33723103
46	POLR2A	chr11:33722064-33723793	U87	brain:	n/a	n/a
47	FOS	chr11:33722382-33723859	MCF10A-Er-Src	breast:	n/a	n/a
48	MTA3	chr11:33722391-33723104	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:33722096-33723195	PFSK-1	brain:	n/a	n/a
50	MAX	chr11:33722047-33723073	A549	lung:	n/a	chr11:33722471-33722481

No.	Distal block	Cell Line	Cell type
1	chr11:33722591..33725977-chr11:33729219..33731745,3	MCF-7	breast:
2	chr11:33722397..33723935-chr11:33724881..33726688,2	K562	blood:
3	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:
4	chr11:33722149..33723049-chr16:2014567..2015355,2	Hela-S3	cervix:
5	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
6	chr11:33722379..33724106-chr11:33727718..33730003,2	K562	blood:
7	chr11:33722652..33724426-chr11:33725685..33727649,2	MCF-7	breast:
8	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
9	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
10	chr11:33722219..33726232-chr11:33726761..33732163,6	K562	blood:

Variant related genes	Relation type
ENSG00000255202	TF binding region
C11orf91	TF binding region
ENSG00000254508	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000110429	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs831612	0.95[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs831616	CD59	cis	Esophagus Muscularis	GTEx
rs831616	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831616	CD59	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33720800-33723600	Enhancers	Spleen	Spleen
3	chr11:33721800-33723000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:33721800-33723000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:33721800-33723000	Active TSS	Left Ventricle	heart
6	chr11:33721800-33723000	Active TSS	Psoas Muscle	Psoas
7	chr11:33721800-33723200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:33722000-33723000	Active TSS	Right Ventricle	heart
9	chr11:33722000-33723200	Active TSS	Fetal Muscle Trunk	muscle
10	chr11:33722000-33723400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:33722200-33723200	Flanking Active TSS	Liver	Liver
12	chr11:33722200-33723800	Flanking Active TSS	HMEC	breast
13	chr11:33722400-33723400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:33722400-33728800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:33722600-33723000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:33722600-33723000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr11:33722600-33723000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:33722600-33723000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr11:33722600-33723000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:33722600-33723000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr11:33722600-33723000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr11:33722600-33723000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:33722600-33723000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:33722600-33723000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr11:33722600-33723000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:33722600-33723000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:33722600-33723000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr11:33722600-33723000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:33722600-33723000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:33722600-33723000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:33722600-33723000	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr11:33722600-33723000	Flanking Active TSS	Fetal Stomach	stomach
33	chr11:33722600-33723000	Flanking Active TSS	Fetal Thymus	thymus
34	chr11:33722600-33723000	Flanking Active TSS	K562	blood
35	chr11:33722600-33723200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr11:33722600-33723200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:33722600-33723200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:33722600-33723200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr11:33722600-33723200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr11:33722600-33723200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:33722600-33723200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr11:33722600-33723200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr11:33722600-33723200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr11:33722600-33723200	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:33722600-33723200	Flanking Active TSS	Colonic Mucosa	Colon
46	chr11:33722600-33723200	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr11:33722600-33723200	Flanking Active TSS	Fetal Heart	heart
48	chr11:33722600-33723200	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr11:33722600-33723200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr11:33722600-33723200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links