Variant report

Variant	rs11827620
Chromosome Location	chr11:63754279-63754280
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	RCOR1	chr11:63753338-63754289	K562	blood:	n/a	n/a
2	ZNF263	chr11:63753512-63756116	HEK293-T-REx	kidney:	n/a	chr11:63755974-63755983
3	YY1	chr11:63753635-63754304	HCT-116	colon:	n/a	chr11:63753920-63753937 chr11:63754249-63754263 chr11:63754229-63754243 chr11:63754126-63754137
4	STAT5A	chr11:63753136-63754291	GM12878	blood:	n/a	chr11:63753460-63753467
5	POLR2A	chr11:63753606-63754441	A549	lung:	n/a	n/a
6	POLR2A	chr11:63753574-63754638	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:63753177-63754526	GM12878	blood:	n/a	n/a
8	SP4	chr11:63753493-63754526	H1-hESC	embryonic stem cell:	n/a	chr11:63753841-63753852 chr11:63753854-63753865
9	TFAP2C	chr11:63753293-63754444	Hela-S3	cervix:	n/a	chr11:63753805-63753820
10	GABPA	chr11:63753264-63754453	H1-hESC	embryonic stem cell:	n/a	n/a
11	ELF1	chr11:63753230-63754461	K562	blood:	n/a	chr11:63754251-63754263
12	POLR2A	chr11:63753145-63754544	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:63753203-63754461	Raji	blood:	n/a	n/a
14	TAF1	chr11:63753556-63754426	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:63753342-63754633	HUVEC	blood vessel:	n/a	n/a
16	RUNX3	chr11:63752920-63754305	GM12878	blood:	n/a	n/a
17	MYC	chr11:63753294-63754348	K562	blood:	n/a	n/a
18	POLR2A	chr11:63753215-63754498	GM15510	blood:	n/a	n/a
19	POLR2A	chr11:63753282-63754472	HepG2	liver:	n/a	n/a
20	MAX	chr11:63753319-63754391	H1-hESC	embryonic stem cell:	n/a	chr11:63754353-63754363
21	TCF12	chr11:63753284-63754471	ECC-1	luminal epithelium:	n/a	chr11:63754038-63754045 chr11:63754039-63754049 chr11:63754036-63754046
22	JUND	chr11:63753589-63754492	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr11:63753595-63754474	ECC-1	luminal epithelium:	n/a	n/a
24	TAF1	chr11:63753410-63754419	A549	lung:	n/a	n/a
25	MXI1	chr11:63753492-63754325	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:63753370-63754394	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr11:63753501-63754395	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr11:63753578-63754328	Hela-S3	cervix:	n/a	chr11:63754185-63754195
29	POLR2A	chr11:63753306-63754421	NB4	blood:	n/a	n/a
30	NFIC	chr11:63753264-63754305	GM12878	blood:	n/a	n/a
31	TBP	chr11:63753090-63754411	K562	blood:	n/a	n/a
32	POLR2A	chr11:63753626-63754316	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr11:63753226-63754465	GM19099	blood:	n/a	n/a
34	HEY1	chr11:63753685-63754328	K562	blood:	n/a	chr11:63754227-63754242
35	POLR2A	chr11:63753561-63754417	HUVEC	blood vessel:	n/a	n/a
36	TAF1	chr11:63753475-63754426	ECC-1	luminal epithelium:	n/a	n/a
37	NRF1	chr11:63753600-63754282	GM12878	blood:	n/a	n/a
38	HCFC1	chr11:63752862-63754909	Hela-S3	cervix:	n/a	n/a
39	SP1	chr11:63753523-63754289	A549	lung:	n/a	chr11:63754250-63754264 chr11:63754128-63754137 chr11:63754249-63754261 chr11:63754050-63754064 chr11:63754127-63754141 chr11:63754232-63754241 chr11:63754058-63754072 chr11:63754233-63754242 chr11:63754231-63754243 chr11:63754126-63754138 chr11:63753841-63753852 chr11:63754249-63754261 chr11:63754231-63754243 chr11:63754233-63754242 chr11:63753854-63753865
40	UBTF	chr11:63753257-63754512	K562	blood:	n/a	n/a
41	BHLHE40	chr11:63753173-63754313	GM12878	blood:	n/a	chr11:63753440-63753456 chr11:63753437-63753453
42	ELF1	chr11:63753256-63754297	SK-N-SH	brain:	n/a	chr11:63754251-63754263
43	POLR2A	chr11:63753021-63754984	HL-60	blood:	n/a	n/a
44	SMARCB1	chr11:63753345-63754578	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr11:63753136-63754388	HL-60	blood:	n/a	n/a
46	FOSL2	chr11:63753615-63754475	HepG2	liver:	n/a	n/a
47	YY1	chr11:63753510-63754421	ECC-1	luminal epithelium:	n/a	chr11:63753920-63753937 chr11:63754249-63754263 chr11:63754229-63754243 chr11:63754126-63754137
48	ELF1	chr11:63753271-63754297	HepG2	liver:	n/a	chr11:63754251-63754263
49	RCOR1	chr11:63753639-63754336	HepG2	liver:	n/a	n/a
50	NR2C2	chr11:63753520-63754284	Hela-S3	cervix:	n/a	chr11:63754256-63754265

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63754254-63754304	GM12891	blood:	n/a
2	chr11:63754254-63754304	AG10803	skin:	n/a
3	chr11:63754254-63754304	AG04449	skin:	fetal
4	chr11:63754254-63754304	HRE	kidney:	n/a
5	chr11:63754254-63754304	MCF10A-Er-Src	breast:	n/a
6	chr11:63754254-63754304	H1-hESC	embryonic stem cell:	embryo
7	chr11:63754254-63754304	NB4	blood:	n/a
8	chr11:63754254-63754304	HUVEC	blood vessel:	n/a
9	chr11:63754254-63754304	NHBE	bronchial:	n/a
10	chr11:63754254-63754304	HRPEpiC	eye:	n/a
11	chr11:63754254-63754304	HAEpiC	amniotic membrane:	n/a
12	chr11:63754254-63754304	MCF-7	breast:	n/a
13	chr11:63754254-63754304	A549	lung:	n/a
14	chr11:63754254-63754304	HEK293	kidney:	embryo
15	chr11:63754254-63754304	SK-N-SH	brain:	n/a
16	chr11:63754254-63754304	AoSMC	blood vessel:	n/a
17	chr11:63754254-63754304	HCF	heart:	n/a
18	chr11:63754254-63754304	IMR90	lung:	fetal
19	chr11:63754254-63754304	HL-60	blood:	n/a
20	chr11:63754254-63754304	Jurkat	blood:	n/a
21	chr11:63754254-63754304	PFSK-1	brain:	n/a
22	chr11:63754254-63754304	AG09309	skin:	n/a
23	chr11:63754254-63754304	HIPEpiC	eye:	n/a
24	chr11:63754254-63754304	NHDF-neo	bronchial:	n/a
25	chr11:63754254-63754304	GM06990	blood:	n/a
26	chr11:63754254-63754304	Hela-S3	cervix:	n/a
27	chr11:63754254-63754304	ECC-1	luminal epithelium:	n/a
28	chr11:63754254-63754304	SAEC	small airway:	n/a
29	chr11:63754254-63754304	LNCaP	prostate:	n/a
30	chr11:63754254-63754304	RPTEC	kidney:	n/a
31	chr11:63754254-63754304	HCT-116	colon:	n/a
32	chr11:63754254-63754304	PrEC	prostate:	n/a
33	chr11:63754254-63754304	NT2-D1	testis:	n/a
34	chr11:63754254-63754304	BE2_C	brain:	n/a
35	chr11:63754254-63754304	T-47D	breast:	n/a
36	chr11:63754254-63754304	HNPCEpiC	eye:	n/a
37	chr11:63754254-63754304	CMK	blood:	n/a
38	chr11:63754254-63754304	ovcar-3	ovarian:	n/a
39	chr11:63754254-63754304	BJ	skin:	n/a
40	chr11:63754254-63754304	K562	blood:	n/a
41	chr11:63754254-63754304	AG09319	gingival:	n/a
42	chr11:63754254-63754304	NH-A	brain:	n/a
43	chr11:63754254-63754304	HepG2	liver:	n/a
44	chr11:63754254-63754304	PANC-1	pancreas:	n/a
45	chr11:63754254-63754304	GM19239	blood:	n/a
46	chr11:63754254-63754304	U87	brain:	n/a
47	chr11:63754254-63754304	SK-N-MC	brain:	n/a
48	chr11:63754254-63754304	Hepatocyte	liver:	n/a
49	chr11:63754254-63754304	AG04450	lung:	fetal
50	chr11:63754254-63754304	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63752288..63756029-chr11:63763681..63768717,11	MCF-7	breast:
2	chr11:63752274..63755193-chr11:64072992..64074621,2	MCF-7	breast:
3	chr11:63739151..63744415-chr11:63752010..63756596,9	MCF-7	breast:
4	chr11:63579621..63581291-chr11:63753774..63755303,2	MCF-7	breast:
5	chr11:63753400..63755949-chr11:63951622..63955787,3	K562	blood:
6	chr1:149857624..149859749-chr11:63753842..63756794,2	MCF-7	breast:
7	chr11:63752327..63755463-chr11:63951684..63954508,4	MCF-7	breast:
8	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
9	chr11:63684119..63685906-chr11:63753939..63756013,2	MCF-7	breast:
10	chr11:63752447..63754904-chr11:63931048..63933995,2	MCF-7	breast:
11	chr11:63752685..63755031-chr11:63931416..63935122,4	MCF-7	breast:
12	chr11:63753567..63754305-chr15:65596788..65597383,2	HCT-116	colon:
13	chr11:63753312..63755381-chr17:57782586..57784599,2	MCF-7	breast:
14	chr11:63752092..63755018-chr11:64008321..64010556,3	K562	blood:

Variant related genes	Relation type
OTUB1	TF binding region
OTUB1	CpG island
ENSG00000178096	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11822339	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1392118	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2133547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2133548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs320112	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs320117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs320124	0.95[ASN][1000 genomes]
rs56781057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57899119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59818390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60791209	0.82[ASN][1000 genomes]
rs61141225	0.82[ASN][1000 genomes]
rs6591831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6591832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7106236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7113021	1.00[AFR][1000 genomes]
rs7127354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7130187	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73496067	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63752800-63754400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:63752800-63754800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:63753000-63754400	Active TSS	HepG2	liver
4	chr11:63753000-63754600	Active TSS	Aorta	Aorta
5	chr11:63753000-63754600	Active TSS	Right Ventricle	heart
6	chr11:63753000-63754600	Active TSS	Small Intestine	intestine
7	chr11:63753000-63754800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:63753000-63754800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:63753000-63754800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:63753000-63754800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:63753000-63755000	Active TSS	Fetal Kidney	kidney
12	chr11:63753000-63755200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr11:63753000-63755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:63753200-63754400	Active TSS	Duodenum Mucosa	Duodenum
15	chr11:63753200-63754400	Active TSS	Esophagus	oesophagus
16	chr11:63753200-63754400	Active TSS	Gastric	stomach
17	chr11:63753200-63754600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:63753200-63754600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:63753200-63754600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:63753200-63754600	Active TSS	Colon Smooth Muscle	Colon
21	chr11:63753200-63754600	Active TSS	Fetal Intestine Large	intestine
22	chr11:63753200-63754600	Active TSS	Lung	lung
23	chr11:63753200-63754600	Active TSS	Ovary	ovary
24	chr11:63753200-63754600	Active TSS	Psoas Muscle	Psoas
25	chr11:63753200-63754600	Active TSS	Right Atrium	heart
26	chr11:63753200-63754800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:63753200-63754800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:63753200-63754800	Active TSS	HSMM	muscle
29	chr11:63753200-63754800	Active TSS	NHDF-Ad	bronchial
30	chr11:63753200-63755000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:63753200-63755200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:63753400-63754400	Active TSS	Primary T cells from cord blood	blood
33	chr11:63753400-63754400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:63753400-63754400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:63753400-63754400	Active TSS	Brain Anterior Caudate	brain
36	chr11:63753400-63754400	Active TSS	Brain Germinal Matrix	brain
37	chr11:63753400-63754400	Active TSS	Fetal Intestine Small	intestine
38	chr11:63753400-63754400	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:63753400-63754400	Active TSS	HUVEC	blood vessel
40	chr11:63753400-63754400	Active TSS	Osteobl	bone
41	chr11:63753400-63754600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:63753400-63754600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:63753400-63754600	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:63753400-63754600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:63753400-63754600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:63753400-63754600	Active TSS	Brain Substantia Nigra	brain
47	chr11:63753400-63754600	Active TSS	Left Ventricle	heart
48	chr11:63753400-63754600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr11:63753400-63754600	Active TSS	Stomach Mucosa	stomach
50	chr11:63753400-63754600	Active TSS	K562	blood

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