Variant report

Variant	rs61653882
Chromosome Location	chr11:63754015-63754016
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	EP300	chr11:63753535-63754274	A549	lung:	n/a	n/a
2	RCOR1	chr11:63753338-63754289	K562	blood:	n/a	n/a
3	ZNF263	chr11:63753512-63756116	HEK293-T-REx	kidney:	n/a	chr11:63755974-63755983
4	MAX	chr11:63753437-63754184	ECC-1	luminal epithelium:	n/a	n/a
5	YY1	chr11:63753635-63754304	HCT-116	colon:	n/a	chr11:63753920-63753937 chr11:63754249-63754263 chr11:63754229-63754243 chr11:63754126-63754137
6	TAL1	chr11:63753830-63754047	K562	blood:	n/a	chr11:63754038-63754047
7	EP300	chr11:63753401-63754203	GM12878	blood:	n/a	chr11:63753441-63753457
8	STAT5A	chr11:63753136-63754291	GM12878	blood:	n/a	chr11:63753460-63753467
9	POLR2A	chr11:63753606-63754441	A549	lung:	n/a	n/a
10	CTCF	chr11:63753880-63754030	NHEK	skin:	n/a	n/a
11	POLR2A	chr11:63753574-63754638	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:63753177-63754526	GM12878	blood:	n/a	n/a
13	SP4	chr11:63753493-63754526	H1-hESC	embryonic stem cell:	n/a	chr11:63753841-63753852 chr11:63753854-63753865
14	TFAP2C	chr11:63753293-63754444	Hela-S3	cervix:	n/a	chr11:63753805-63753820
15	MAX	chr11:63753711-63754190	K562	blood:	n/a	n/a
16	GABPA	chr11:63753264-63754453	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOXM1	chr11:63753172-63754272	GM12878	blood:	n/a	n/a
18	SIX5	chr11:63753730-63754057	A549	lung:	n/a	n/a
19	ELF1	chr11:63753230-63754461	K562	blood:	n/a	chr11:63754251-63754263
20	POLR2A	chr11:63753605-63754199	GM12892	blood:	n/a	n/a
21	SIN3AK20	chr11:63753622-63754197	SK-N-SH	brain:	n/a	n/a
22	RELA	chr11:63753701-63754176	GM19099	blood:	n/a	n/a
23	POLR2A	chr11:63753145-63754544	GM12892	blood:	n/a	n/a
24	TCF12	chr11:63753579-63754065	A549	lung:	n/a	chr11:63754038-63754045 chr11:63754039-63754049 chr11:63754036-63754046
25	POLR2A	chr11:63753203-63754461	Raji	blood:	n/a	n/a
26	REST	chr11:63753500-63754121	MCF-7	breast:	n/a	chr11:63754033-63754046
27	TAF1	chr11:63753556-63754426	PFSK-1	brain:	n/a	n/a
28	SIN3AK20	chr11:63753306-63754272	K562	blood:	n/a	n/a
29	ELK1	chr11:63753099-63754099	GM12878	blood:	n/a	n/a
30	EP300	chr11:63753661-63754083	K562	blood:	n/a	n/a
31	POLR2A	chr11:63753612-63754234	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr11:63753342-63754633	HUVEC	blood vessel:	n/a	n/a
33	ATF2	chr11:63753592-63754049	H1-hESC	embryonic stem cell:	n/a	n/a
34	RUNX3	chr11:63752920-63754305	GM12878	blood:	n/a	n/a
35	MYC	chr11:63753294-63754348	K562	blood:	n/a	n/a
36	POLR2A	chr11:63753215-63754498	GM15510	blood:	n/a	n/a
37	POLR2A	chr11:63753282-63754472	HepG2	liver:	n/a	n/a
38	ETS1	chr11:63753446-63754263	A549	lung:	n/a	chr11:63753460-63753469 chr11:63753457-63753470 chr11:63754128-63754139 chr11:63753783-63753796
39	MAX	chr11:63753319-63754391	H1-hESC	embryonic stem cell:	n/a	chr11:63754353-63754363
40	ZEB1	chr11:63753280-63754263	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:63753747-63754115	HepG2	liver:	n/a	n/a
42	REST	chr11:63753760-63754116	SK-N-SH	brain:	n/a	chr11:63754033-63754046
43	TCF12	chr11:63753284-63754471	ECC-1	luminal epithelium:	n/a	chr11:63754038-63754045 chr11:63754039-63754049 chr11:63754036-63754046
44	JUND	chr11:63753589-63754492	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr11:63753595-63754474	ECC-1	luminal epithelium:	n/a	n/a
46	ZNF143	chr11:63753720-63754077	Hela-S3	cervix:	n/a	n/a
47	TAF1	chr11:63753410-63754419	A549	lung:	n/a	n/a
48	TAF1	chr11:63753655-63754093	GM12892	blood:	n/a	n/a
49	MXI1	chr11:63753492-63754325	H1-hESC	embryonic stem cell:	n/a	n/a
50	ETS1	chr11:63753672-63754034	A549	lung:	n/a	chr11:63753783-63753796

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:
15	chr11:63753553..63754106-chr17:4269063..4269979,2	Hela-S3	cervix:

Variant related genes	Relation type
OTUB1	TF binding region
ENSG00000167771	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000132388	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11231665	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11494059	0.83[AMR][1000 genomes]
rs12277386	1.00[AMR][1000 genomes]
rs12277838	1.00[AMR][1000 genomes]
rs12285283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288290	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12417157	0.81[AFR][1000 genomes]
rs17403349	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34689425	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55951521	1.00[EUR][1000 genomes]
rs55956041	1.00[EUR][1000 genomes]
rs56217591	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57864399	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57868637	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59502039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59642000	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106510	1.00[EUR][1000 genomes]
rs7929867	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7933899	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938631	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9326430	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630214	1.00[AMR][1000 genomes]
rs9630215	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9888177	0.82[AFR][1000 genomes];1.00[AMR][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	chr11:63753000-63754200	Active TSS	Colonic Mucosa	Colon
4	chr11:63753000-63754400	Active TSS	HepG2	liver
5	chr11:63753000-63754600	Active TSS	Aorta	Aorta
6	chr11:63753000-63754600	Active TSS	Right Ventricle	heart
7	chr11:63753000-63754600	Active TSS	Small Intestine	intestine
8	chr11:63753000-63754800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:63753000-63754800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:63753000-63754800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:63753000-63754800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:63753000-63755000	Active TSS	Fetal Kidney	kidney
13	chr11:63753000-63755200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr11:63753000-63755400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:63753200-63754200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:63753200-63754400	Active TSS	Duodenum Mucosa	Duodenum
17	chr11:63753200-63754400	Active TSS	Esophagus	oesophagus
18	chr11:63753200-63754400	Active TSS	Gastric	stomach
19	chr11:63753200-63754600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:63753200-63754600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:63753200-63754600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:63753200-63754600	Active TSS	Colon Smooth Muscle	Colon
23	chr11:63753200-63754600	Active TSS	Fetal Intestine Large	intestine
24	chr11:63753200-63754600	Active TSS	Lung	lung
25	chr11:63753200-63754600	Active TSS	Ovary	ovary
26	chr11:63753200-63754600	Active TSS	Psoas Muscle	Psoas
27	chr11:63753200-63754600	Active TSS	Right Atrium	heart
28	chr11:63753200-63754800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:63753200-63754800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:63753200-63754800	Active TSS	HSMM	muscle
31	chr11:63753200-63754800	Active TSS	NHDF-Ad	bronchial
32	chr11:63753200-63755000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:63753200-63755200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:63753400-63754200	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:63753400-63754200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:63753400-63754200	Active TSS	Thymus	Thymus
37	chr11:63753400-63754400	Active TSS	Primary T cells from cord blood	blood
38	chr11:63753400-63754400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:63753400-63754400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:63753400-63754400	Active TSS	Brain Anterior Caudate	brain
41	chr11:63753400-63754400	Active TSS	Brain Germinal Matrix	brain
42	chr11:63753400-63754400	Active TSS	Fetal Intestine Small	intestine
43	chr11:63753400-63754400	Active TSS	Rectal Smooth Muscle	rectum
44	chr11:63753400-63754400	Active TSS	HUVEC	blood vessel
45	chr11:63753400-63754400	Active TSS	Osteobl	bone
46	chr11:63753400-63754600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:63753400-63754600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:63753400-63754600	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:63753400-63754600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:63753400-63754600	Active TSS	Brain Inferior Temporal Lobe	brain

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