Variant report

Variant	rs2509324
Chromosome Location	chr11:94245740-94245741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:94245177-94245979	HepG2	liver:	n/a	chr11:94245597-94245612 chr11:94245599-94245614
2	RUNX3	chr11:94245525-94246034	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr11:94245459-94245852	SK-N-SH	brain:	n/a	n/a
4	SIN3AK20	chr11:94245536-94245782	PFSK-1	brain:	n/a	n/a
5	CHD2	chr11:94245515-94245880	HepG2	liver:	n/a	chr11:94245580-94245590
6	CTCF	chr11:94245707-94245784	GM19239	blood:	n/a	n/a
7	TBP	chr11:94245475-94245929	H1-hESC	embryonic stem cell:	n/a	n/a
8	RCOR1	chr11:94245567-94245770	HepG2	liver:	n/a	n/a
9	CTCF	chr11:94245720-94245870	GM12871	blood:	n/a	n/a
10	CTCF	chr11:94245600-94245750	HCM	heart:	n/a	n/a
11	YY1	chr11:94245420-94245808	HepG2	liver:	n/a	chr11:94245579-94245588
12	CTCF	chr11:94245700-94245850	HBMEC	blood vessel:	n/a	n/a
13	MXI1	chr11:94245351-94246146	IMR90	lung:	n/a	chr11:94245597-94245612 chr11:94245599-94245614
14	CTCF	chr11:94245680-94245830	HMEC	breast:	n/a	n/a
15	MAX	chr11:94245586-94245829	GM12878	blood:	n/a	chr11:94245603-94245612
16	TEAD4	chr11:94245457-94245859	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr11:94245259-94246656	SK-N-SH	brain:	n/a	chr11:94245597-94245612 chr11:94245599-94245614
18	CTCF	chr11:94245740-94245890	Caco-2	colon:	n/a	chr11:94245865-94245878
19	CTCF	chr11:94245682-94245765	GM12891	blood:	n/a	n/a
20	MAX	chr11:94245428-94245996	SK-N-SH	brain:	n/a	chr11:94245603-94245612
21	CTCF	chr11:94245708-94245789	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr11:94245595-94245802	GM12878	blood:	n/a	n/a
23	UBTF	chr11:94245729-94245800	K562	blood:	n/a	n/a
24	MAX	chr11:94245476-94245861	NB4	blood:	n/a	chr11:94245603-94245612
25	CTCF	chr11:94245680-94245830	AG04449	skin:	n/a	n/a
26	EP300	chr11:94245662-94245923	GM12878	blood:	n/a	n/a
27	MAX	chr11:94245452-94245915	H1-hESC	embryonic stem cell:	n/a	chr11:94245603-94245612
28	SIN3AK20	chr11:94245464-94245757	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr11:94245461-94245793	H1-hESC	embryonic stem cell:	n/a	chr11:94245580-94245590
30	MAX	chr11:94245471-94245928	ECC-1	luminal epithelium:	n/a	chr11:94245603-94245612
31	SIN3AK20	chr11:94245509-94245862	PANC-1	pancreas:	n/a	n/a
32	CTCF	chr11:94245680-94245830	GM12874	blood:	n/a	n/a
33	MAX	chr11:94245437-94245884	H1-hESC	embryonic stem cell:	n/a	chr11:94245603-94245612
34	RAD21	chr11:94245525-94245921	IMR90	lung:	n/a	chr11:94245576-94245586
35	MAX	chr11:94245424-94245768	H1-hESC	embryonic stem cell:	n/a	chr11:94245603-94245612
36	CTCF	chr11:94245652-94245801	Fibrobl	skin:	n/a	n/a
37	BHLHE40	chr11:94245652-94245850	GM12878	blood:	n/a	n/a
38	MXI1	chr11:94245400-94245870	H1-hESC	embryonic stem cell:	n/a	chr11:94245597-94245612 chr11:94245599-94245614
39	MAX	chr11:94245560-94245760	K562	blood:	n/a	chr11:94245603-94245612
40	TEAD4	chr11:94245117-94245792	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr11:94245504-94245904	GM12878	blood:	n/a	chr11:94245580-94245590
42	CTCF	chr11:94245699-94245821	ProgFib	skin:	n/a	n/a
43	FOXP2	chr11:94245495-94245972	PFSK-1	brain:	n/a	n/a
44	CTCF	chr11:94245740-94245890	HUVEC	blood vessel:	n/a	chr11:94245865-94245878
45	CTCF	chr11:94245620-94245770	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr11:94245640-94245790	HCPEpiC	choroid plexus:	n/a	n/a
47	SIN3A	chr11:94245215-94246056	H1-hESC	embryonic stem cell:	n/a	chr11:94245573-94245584 chr11:94245847-94245856
48	RUNX3	chr11:94245539-94246059	GM12878	blood:	n/a	n/a
49	MAZ	chr11:94245665-94245949	GM12878	blood:	n/a	n/a
50	CTCF	chr11:94245700-94245850	RPTEC	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:94245735-94245785	Jurkat	blood:	n/a
2	chr11:94245735-94245785	GM12878	blood:	n/a
3	chr11:94245735-94245785	NHDF-neo	bronchial:	n/a
4	chr11:94245735-94245785	HCT-116	colon:	n/a
5	chr11:94245735-94245785	AG04450	lung:	fetal
6	chr11:94245735-94245785	HUVEC	blood vessel:	n/a
7	chr11:94245735-94245785	HepG2	liver:	n/a
8	chr11:94245735-94245785	Caco-2	colon:	n/a
9	chr11:94245735-94245785	BJ	skin:	n/a
10	chr11:94245735-94245785	HCM	heart:	n/a
11	chr11:94245735-94245785	HL-60	blood:	n/a
12	chr11:94245735-94245785	PFSK-1	brain:	n/a
13	chr11:94245735-94245785	HAEpiC	amniotic membrane:	n/a
14	chr11:94245735-94245785	PANC-1	pancreas:	n/a
15	chr11:94245735-94245785	AG10803	skin:	n/a
16	chr11:94245735-94245785	NHBE	bronchial:	n/a
17	chr11:94245735-94245785	HIPEpiC	eye:	n/a
18	chr11:94245735-94245785	H1-hESC	embryonic stem cell:	embryo
19	chr11:94245735-94245785	Hepatocyte	liver:	n/a
20	chr11:94245735-94245785	CMK	blood:	n/a
21	chr11:94245735-94245785	IMR90	lung:	fetal
22	chr11:94245735-94245785	NB4	blood:	n/a
23	chr11:94245735-94245785	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:94245735-94245785	GM19239	blood:	n/a
25	chr11:94245735-94245785	RPTEC	kidney:	n/a
26	chr11:94245735-94245785	SK-N-SH_RA	brain:	n/a
27	chr11:94245735-94245785	LNCaP	prostate:	n/a
28	chr11:94245735-94245785	SAEC	small airway:	n/a
29	chr11:94245735-94245785	ProgFib	skin:	n/a
30	chr11:94245735-94245785	HCF	heart:	n/a
31	chr11:94245735-94245785	HRPEpiC	eye:	n/a
32	chr11:94245735-94245785	MCF10A-Er-Src	breast:	n/a
33	chr11:94245735-94245785	AG09309	skin:	n/a
34	chr11:94245735-94245785	SK-N-SH	brain:	n/a
35	chr11:94245735-94245785	HRCEpiC	kidney:	n/a
36	chr11:94245735-94245785	U87	brain:	n/a
37	chr11:94245735-94245785	NH-A	brain:	n/a
38	chr11:94245735-94245785	AG04449	skin:	fetal
39	chr11:94245735-94245785	T-47D	breast:	n/a
40	chr11:94245735-94245785	HCPEpiC	choroid plexus:	n/a
41	chr11:94245735-94245785	SKMC	muscle:	n/a
42	chr11:94245735-94245785	GM06990	blood:	n/a
43	chr11:94245735-94245785	K562	blood:	n/a
44	chr11:94245735-94245785	ovcar-3	ovarian:	n/a
45	chr11:94245735-94245785	MCF-7	breast:	n/a
46	chr11:94245735-94245785	BE2_C	brain:	n/a
47	chr11:94245735-94245785	GM12892	blood:	n/a
48	chr11:94245735-94245785	PrEC	prostate:	n/a
49	chr11:94245735-94245785	AoSMC	blood vessel:	n/a
50	chr11:94245735-94245785	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
LINC01171	TF binding region
LINC01171	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2508460	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509321	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2509943	0.84[AMR][1000 genomes]
rs4342993	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4593974	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs484590	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs486556	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs489200	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs492001	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs493982	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs497763	0.84[AMR][1000 genomes]
rs518276	0.83[CEU][hapmap]
rs525057	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs525921	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs533984	0.83[CEU][hapmap]
rs536768	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544337	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547207	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs553634	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs571044	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582049	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs582077	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs610899	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612075	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs612632	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs614424	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs621562	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs628079	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628164	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628728	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs629119	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs629156	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs642744	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs647249	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6483341	0.80[JPT][hapmap]
rs659349	0.80[AMR][1000 genomes]
rs659489	0.91[ASN][1000 genomes]
rs662572	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs675478	0.84[CEU][hapmap]
rs693815	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs695093	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs2509324	MRE11A	cis	Adipose Subcutaneous	GTEx
rs2509324	RP11-685N10.1	cis	Stomach	GTEx
rs2509324	RP11-685N10.1	cis	Thyroid	GTEx
rs2509324	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs2509324	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs2509324	MRE11A	cis	Esophagus Muscularis	GTEx
rs2509324	MRE11A	cis	Artery Tibial	GTEx
rs2509324	MRE11A	cis	Esophagus Mucosa	GTEx
rs2509324	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs2509324	MRE11A	cis	Heart Left Ventricle	GTEx
rs2509324	RP11-685N10.1	cis	lung	GTEx
rs2509324	MRE11A	cis	Nerve Tibial	GTEx
rs2509324	RP11-685N10.1	cis	Artery Aorta	GTEx
rs2509324	RP11-685N10.1	cis	Artery Tibial	GTEx
rs2509324	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs2509324	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs2509324	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs2509324	MRE11A	cis	lung	GTEx
rs2509324	MRE11A	cis	Stomach	GTEx
rs2509324	MRE11A	cis	Thyroid	GTEx
rs2509324	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs2509324	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94228000-94245800	Weak transcription	Stomach Mucosa	stomach
2	chr11:94245000-94246000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:94245000-94246000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr11:94245000-94246200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:94245000-94246200	Flanking Active TSS	Liver	Liver
6	chr11:94245000-94246200	Active TSS	Brain Hippocampus Middle	brain
7	chr11:94245000-94246200	Active TSS	HSMM	muscle
8	chr11:94245000-94246400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:94245000-94246600	Active TSS	Brain Angular Gyrus	brain
10	chr11:94245000-94246600	Flanking Active TSS	HMEC	breast
11	chr11:94245200-94245800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:94245200-94245800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:94245200-94245800	Active TSS	Fetal Brain Female	brain
14	chr11:94245200-94245800	Active TSS	Fetal Intestine Small	intestine
15	chr11:94245200-94245800	Active TSS	Right Ventricle	heart
16	chr11:94245200-94246000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
17	chr11:94245200-94246000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:94245200-94246000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:94245200-94246000	Active TSS	Aorta	Aorta
20	chr11:94245200-94246000	Enhancers	Fetal Brain Male	brain
21	chr11:94245200-94246000	Active TSS	Fetal Kidney	kidney
22	chr11:94245200-94246000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr11:94245200-94246000	Flanking Active TSS	Placenta	Placenta
24	chr11:94245200-94246000	Active TSS	Right Atrium	heart
25	chr11:94245200-94246200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:94245200-94246200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:94245200-94246200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:94245200-94246200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:94245200-94246200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr11:94245200-94246200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
31	chr11:94245200-94246200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr11:94245200-94246200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:94245200-94246200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:94245200-94246200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr11:94245200-94246200	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:94245200-94246200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:94245200-94246200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:94245200-94246200	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:94245200-94246200	Active TSS	NHDF-Ad	bronchial
40	chr11:94245200-94246400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:94245200-94246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:94245200-94246400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr11:94245200-94246400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:94245200-94246400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr11:94245200-94246600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:94245200-94246600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:94245200-94246600	Flanking Active TSS	NHEK	skin
48	chr11:94245200-94246800	Enhancers	Fetal Heart	heart
49	chr11:94245200-94246800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:94245200-94247000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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