Variant report

Variant	rs61893486
Chromosome Location	chr11:76340811-76340812
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr11:76340579-76340904	GM12878	blood:	n/a	n/a
2	TBP	chr11:76340544-76340967	GM12878	blood:	n/a	n/a
3	EBF1	chr11:76340657-76340886	GM12878	blood:	n/a	n/a
4	EP300	chr11:76340576-76340933	GM12878	blood:	n/a	chr11:76340709-76340718 chr11:76340705-76340719
5	CREB1	chr11:76340407-76341041	GM12878	blood:	n/a	n/a
6	MXI1	chr11:76340582-76340879	GM12878	blood:	n/a	n/a
7	SPI1	chr11:76340507-76340876	GM12878	blood:	n/a	n/a
8	NFIC	chr11:76340225-76341036	GM12878	blood:	n/a	n/a
9	JUN	chr11:76340534-76340926	HUVEC	blood vessel:	n/a	chr11:76340707-76340716
10	POLR2A	chr11:76340349-76340908	GM12891	blood:	n/a	n/a
11	MAX	chr11:76340126-76340992	NB4	blood:	n/a	n/a
12	POLR2A	chr11:76340316-76340976	HUVEC	blood vessel:	n/a	n/a
13	RUNX3	chr11:76340454-76340958	GM12878	blood:	n/a	n/a
14	USF2	chr11:76340653-76340875	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:76340442-76341021	GM12892	blood:	n/a	n/a
16	ELF1	chr11:76340199-76341601	GM12878	blood:	n/a	n/a
17	CEBPB	chr11:76340642-76340918	HepG2	liver:	n/a	chr11:76340759-76340772
18	RCOR1	chr11:76340584-76341033	GM12878	blood:	n/a	n/a
19	EGR1	chr11:76340540-76340852	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:76339446-76342097	HUVEC	blood vessel:	n/a	n/a
21	SPI1	chr11:76340569-76340816	GM12891	blood:	n/a	n/a
22	SP1	chr11:76340550-76340865	GM12878	blood:	n/a	chr11:76340656-76340668
23	CHD2	chr11:76340293-76341637	GM12878	blood:	n/a	n/a
24	MAX	chr11:76340260-76340997	HUVEC	blood vessel:	n/a	n/a
25	MAX	chr11:76340519-76341071	GM12878	blood:	n/a	n/a
26	SPI1	chr11:76340451-76340838	GM12891	blood:	n/a	n/a
27	CEBPB	chr11:76340589-76340943	IMR90	lung:	n/a	chr11:76340759-76340772
28	PAX5	chr11:76340602-76340812	GM12878	blood:	n/a	n/a
29	CREB1	chr11:76340364-76341077	GM12878	blood:	n/a	n/a
30	EP300	chr11:76340469-76341083	GM12878	blood:	n/a	chr11:76340709-76340718 chr11:76340705-76340719
31	MYC	chr11:76340554-76340948	HUVEC	blood vessel:	n/a	n/a
32	EP300	chr11:76340572-76340930	GM12878	blood:	n/a	chr11:76340709-76340718 chr11:76340705-76340719
33	SPI1	chr11:76340607-76340896	HL-60	blood:	n/a	n/a
34	POLR2A	chr11:76340247-76340946	GM12891	blood:	n/a	n/a
35	MYC	chr11:76340227-76341671	NB4	blood:	n/a	chr11:76341321-76341330
36	POLR2A	chr11:76340041-76341974	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:76340474-76340905	HUVEC	blood vessel:	n/a	n/a
38	MAZ	chr11:76340574-76340972	GM12878	blood:	n/a	n/a
39	TBL1XR1	chr11:76340590-76340970	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:76340264-76341068	HUVEC	blood vessel:	n/a	n/a
41	BHLHE40	chr11:76340563-76341698	GM12878	blood:	n/a	chr11:76341389-76341405
42	POLR2A	chr11:76340387-76341005	GM12892	blood:	n/a	n/a
43	SPI1	chr11:76340440-76340922	HL-60	blood:	n/a	n/a
44	PML	chr11:76340231-76341075	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:76340765-76340815	PFSK-1	brain:	n/a
2	chr11:76340765-76340815	BE2_C	brain:	n/a
3	chr11:76340765-76340815	PrEC	prostate:	n/a
4	chr11:76340765-76340815	HIPEpiC	eye:	n/a
5	chr11:76340765-76340815	LNCaP	prostate:	n/a
6	chr11:76340765-76340815	SK-N-SH	brain:	n/a
7	chr11:76340765-76340815	HNPCEpiC	eye:	n/a
8	chr11:76340765-76340815	H1-hESC	embryonic stem cell:	embryo
9	chr11:76340765-76340815	MCF10A-Er-Src	breast:	n/a
10	chr11:76340765-76340815	GM12892	blood:	n/a
11	chr11:76340765-76340815	ECC-1	luminal epithelium:	n/a
12	chr11:76340765-76340815	HL-60	blood:	n/a
13	chr11:76340765-76340815	SAEC	small airway:	n/a
14	chr11:76340765-76340815	HUVEC	blood vessel:	n/a
15	chr11:76340765-76340815	AG09319	gingival:	n/a
16	chr11:76340765-76340815	Hepatocyte	liver:	n/a
17	chr11:76340765-76340815	AG04449	skin:	fetal
18	chr11:76340765-76340815	NT2-D1	testis:	n/a
19	chr11:76340765-76340815	Hela-S3	cervix:	n/a
20	chr11:76340765-76340815	BJ	skin:	n/a
21	chr11:76340765-76340815	RPTEC	kidney:	n/a
22	chr11:76340765-76340815	Caco-2	colon:	n/a
23	chr11:76340765-76340815	HCF	heart:	n/a
24	chr11:76340765-76340815	AG09309	skin:	n/a
25	chr11:76340765-76340815	ProgFib	skin:	n/a
26	chr11:76340765-76340815	SK-N-MC	brain:	n/a
27	chr11:76340765-76340815	GM19239	blood:	n/a
28	chr11:76340765-76340815	HAEpiC	amniotic membrane:	n/a
29	chr11:76340765-76340815	HepG2	liver:	n/a
30	chr11:76340765-76340815	HRE	kidney:	n/a
31	chr11:76340765-76340815	K562	blood:	n/a
32	chr11:76340765-76340815	NH-A	brain:	n/a
33	chr11:76340765-76340815	GM06990	blood:	n/a
34	chr11:76340765-76340815	SKMC	muscle:	n/a
35	chr11:76340765-76340815	T-47D	breast:	n/a
36	chr11:76340765-76340815	HEK293	kidney:	embryo
37	chr11:76340765-76340815	NB4	blood:	n/a
38	chr11:76340765-76340815	PANC-1	pancreas:	n/a
39	chr11:76340765-76340815	HCPEpiC	choroid plexus:	n/a
40	chr11:76340765-76340815	ovcar-3	ovarian:	n/a
41	chr11:76340765-76340815	HCM	heart:	n/a
42	chr11:76340765-76340815	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:76340765-76340815	NHBE	bronchial:	n/a
44	chr11:76340765-76340815	AG10803	skin:	n/a
45	chr11:76340765-76340815	IMR90	lung:	fetal
46	chr11:76340765-76340815	HRPEpiC	eye:	n/a
47	chr11:76340765-76340815	GM12878	blood:	n/a
48	chr11:76340765-76340815	U87	brain:	n/a
49	chr11:76340765-76340815	NHDF-neo	bronchial:	n/a
50	chr11:76340765-76340815	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76337563..76340451-chr11:76340690..76342431,2	MCF-7	breast:
2	chr11:76340695..76342545-chr8:146016002..146018963,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255479	TF binding region
ENSG00000255479	CpG island
ENSG00000161016	Chromatin interaction
ENSG00000255479	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10899241	0.91[ASN][1000 genomes]
rs10899244	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10899245	0.82[ASN][1000 genomes]
rs11236817	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11236821	0.91[ASN][1000 genomes]
rs11236822	0.91[ASN][1000 genomes]
rs11236823	0.89[ASN][1000 genomes]
rs11600548	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12361883	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57077897	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1043912	chr11:76301316-76439095	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1039451	chr11:76301316-76440221	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76334000-76341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:76336600-76341200	Weak transcription	K562	blood
3	chr11:76337200-76342200	Enhancers	Primary B cells from cord blood	blood
4	chr11:76337400-76341800	Enhancers	Spleen	Spleen
5	chr11:76337400-76342000	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:76337600-76341000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:76337600-76341600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:76337600-76342000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:76337600-76342600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:76337800-76342000	Enhancers	Fetal Thymus	thymus
11	chr11:76337800-76342200	Enhancers	Placenta	Placenta
12	chr11:76338000-76341200	Enhancers	GM12878-XiMat	blood
13	chr11:76338200-76341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:76338200-76341200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:76338400-76341000	Weak transcription	Aorta	Aorta
16	chr11:76338600-76341600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:76338800-76341200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:76338800-76341200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:76338800-76341600	Enhancers	Lung	lung
20	chr11:76339400-76342000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:76339400-76342600	Enhancers	Left Ventricle	heart
22	chr11:76339600-76342600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:76339800-76341000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:76339800-76341200	Enhancers	Colonic Mucosa	Colon
25	chr11:76339800-76341200	Enhancers	Fetal Intestine Small	intestine
26	chr11:76339800-76342000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:76339800-76342600	Enhancers	Fetal Stomach	stomach
28	chr11:76339800-76342800	Enhancers	Fetal Muscle Leg	muscle
29	chr11:76340000-76341600	Enhancers	NHLF	lung
30	chr11:76340000-76342000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:76340000-76343800	Enhancers	HUVEC	blood vessel
32	chr11:76340200-76341200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:76340200-76341200	Enhancers	Brain Hippocampus Middle	brain
34	chr11:76340200-76341400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:76340200-76341400	Enhancers	Primary T cells from cord blood	blood
36	chr11:76340200-76341400	Enhancers	Colon Smooth Muscle	Colon
37	chr11:76340200-76341400	Enhancers	Esophagus	oesophagus
38	chr11:76340200-76341600	Enhancers	Right Ventricle	heart
39	chr11:76340200-76341800	Enhancers	Brain Anterior Caudate	brain
40	chr11:76340200-76341800	Enhancers	Stomach Mucosa	stomach
41	chr11:76340200-76342000	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:76340200-76342000	Enhancers	Fetal Heart	heart
43	chr11:76340200-76342000	Enhancers	Ovary	ovary
44	chr11:76340200-76342000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:76340200-76342000	Enhancers	Small Intestine	intestine
46	chr11:76340200-76342400	Enhancers	NHDF-Ad	bronchial
47	chr11:76340400-76341000	Enhancers	Rectal Smooth Muscle	rectum
48	chr11:76340400-76341000	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:76340400-76341400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:76340400-76341400	Enhancers	NH-A	brain

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