Variant report

Variant	rs72976568
Chromosome Location	chr11:93516640-93516641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:93516598-93516775	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:93516466-93516802	K562	blood:	n/a	n/a
3	POLR2A	chr11:93516564-93518480	Raji	blood:	n/a	n/a
4	MAZ	chr11:93516481-93518457	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:93516629-93518250	K562	blood:	n/a	n/a
6	POLR2A	chr11:93516251-93518519	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:93516622-93518345	GM19099	blood:	n/a	n/a
8	POLR2A	chr11:93516562-93518442	GM12878	blood:	n/a	n/a
9	HCFC1	chr11:93516407-93519117	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:93516551-93516834	K562	blood:	n/a	n/a
11	POLR2A	chr11:93516086-93518337	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr11:93516588-93516753	Gliobla	brain:	n/a	n/a
13	POLR2A	chr11:93516496-93518228	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr11:93516509-93518445	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93392460..93395279-chr11:93515167..93518670,4	K562	blood:
2	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
3	chr11:93468648..93476533-chr11:93513626..93520226,41	K562	blood:
4	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
5	chr11:93516606..93519025-chr11:93528430..93531862,4	MCF-7	breast:
6	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
7	chr11:93393142..93395279-chr11:93515864..93518097,3	K562	blood:
8	chr11:93516094..93517696-chr11:93525535..93527158,2	MCF-7	breast:
9	chr11:93459100..93466497-chr11:93514555..93520746,14	K562	blood:

No data

Variant related genes	Relation type
MED17	TF binding region
ENSG00000166004	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000206834	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000238437	Chromatin interaction
ENSG00000210825	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000206799	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000042429	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1150326	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1298531	0.88[ASN][1000 genomes]
rs16919444	0.81[ASN][1000 genomes]
rs2077408	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34057693	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3763808	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55734929	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58063272	0.81[ASN][1000 genomes]
rs58976781	0.81[ASN][1000 genomes]
rs598495	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs601792	0.88[ASN][1000 genomes]
rs606087	0.86[EUR][1000 genomes]
rs61498836	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs615428	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61904953	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61904957	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61906576	0.86[ASN][1000 genomes]
rs61906579	0.84[ASN][1000 genomes]
rs626216	0.86[ASN][1000 genomes]
rs628665	0.86[EUR][1000 genomes]
rs636482	0.88[ASN][1000 genomes]
rs654896	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664257	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66460850	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66483735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66487029	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66760087	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66797025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66887806	0.86[ASN][1000 genomes]
rs669565	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66963387	0.81[ASN][1000 genomes]
rs670391	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs674886	0.81[EUR][1000 genomes]
rs67594435	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs676586	0.86[EUR][1000 genomes]
rs67681709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677019	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67734074	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679241	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs687042	0.86[EUR][1000 genomes]
rs7114611	0.84[ASN][1000 genomes]
rs7115115	0.84[ASN][1000 genomes]
rs7117456	0.81[EUR][1000 genomes]
rs7119738	0.81[ASN][1000 genomes]
rs7125525	0.84[ASN][1000 genomes]
rs7125919	0.81[ASN][1000 genomes]
rs7126745	0.84[ASN][1000 genomes]
rs7129970	0.81[ASN][1000 genomes]
rs72976543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7924366	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93492200-93516800	Weak transcription	Right Ventricle	heart
2	chr11:93515200-93517000	Weak transcription	Lung	lung
3	chr11:93516400-93516800	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:93516400-93516800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr11:93516400-93516800	Flanking Active TSS	GM12878-XiMat	blood
6	chr11:93516600-93516800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:93516600-93516800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:93516600-93516800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:93516600-93516800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:93516600-93516800	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:93516600-93516800	Enhancers	Primary T cells from cord blood	blood
12	chr11:93516600-93516800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:93516600-93516800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:93516600-93516800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:93516600-93516800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:93516600-93516800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:93516600-93516800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:93516600-93516800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:93516600-93516800	Enhancers	Liver	Liver
20	chr11:93516600-93516800	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr11:93516600-93516800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr11:93516600-93516800	Enhancers	Brain Substantia Nigra	brain
23	chr11:93516600-93516800	Enhancers	Colon Smooth Muscle	Colon
24	chr11:93516600-93516800	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:93516600-93516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:93516600-93516800	Enhancers	Fetal Heart	heart
27	chr11:93516600-93516800	Enhancers	Fetal Intestine Large	intestine
28	chr11:93516600-93516800	Enhancers	Fetal Intestine Small	intestine
29	chr11:93516600-93516800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr11:93516600-93516800	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:93516600-93516800	Enhancers	Fetal Muscle Leg	muscle
32	chr11:93516600-93516800	Enhancers	Placenta	Placenta
33	chr11:93516600-93516800	Enhancers	Fetal Stomach	stomach
34	chr11:93516600-93516800	Enhancers	Fetal Thymus	thymus
35	chr11:93516600-93516800	Enhancers	Psoas Muscle	Psoas
36	chr11:93516600-93516800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:93516600-93516800	Enhancers	Right Atrium	heart
38	chr11:93516600-93516800	Enhancers	Thymus	Thymus
39	chr11:93516600-93516800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr11:93516600-93517000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:93516600-93517000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:93516600-93517000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:93516600-93517000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:93516600-93517000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:93516600-93517000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:93516600-93517000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:93516600-93517000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:93516600-93517000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:93516600-93517000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:93516600-93517000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links