Variant report

Variant	rs554073053
Chromosome Location	chr11:63685594-63685595
allele	A/G
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	MAX	chr11:63685252-63686061	K562	blood:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
2	E2F6	chr11:63685430-63685631	K562	blood:	n/a	chr11:63685498-63685508 chr11:63685583-63685592 chr11:63685539-63685548 chr11:63685587-63685596
3	USF1	chr11:63685365-63685646	SK-N-SH_RA	brain:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
4	ZKSCAN1	chr11:63685138-63685760	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:63683879-63686201	K562	blood:	n/a	n/a
6	E2F6	chr11:63685393-63686101	K562	blood:	n/a	chr11:63685498-63685508 chr11:63685583-63685592 chr11:63685938-63685950 chr11:63685539-63685548 chr11:63685587-63685596
7	BHLHE40	chr11:63685246-63685824	GM12878	blood:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
8	SMARCB1	chr11:63683963-63686387	Hela-S3	cervix:	n/a	n/a
9	MAX	chr11:63685437-63685620	GM12878	blood:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
10	TEAD4	chr11:63685210-63685660	H1-hESC	embryonic stem cell:	n/a	n/a
11	CCNT2	chr11:63685334-63686012	K562	blood:	n/a	chr11:63685353-63685362 chr11:63685422-63685431
12	CHD2	chr11:63684457-63685997	Hela-S3	cervix:	n/a	chr11:63685353-63685363 chr11:63685039-63685049
13	EP300	chr11:63685179-63685643	A549	lung:	n/a	chr11:63685251-63685264 chr11:63685499-63685508
14	SP1	chr11:63685267-63685846	H1-hESC	embryonic stem cell:	n/a	chr11:63685422-63685431 chr11:63685593-63685605 chr11:63685763-63685777 chr11:63685418-63685432 chr11:63685581-63685593 chr11:63685353-63685362 chr11:63685594-63685604 chr11:63685421-63685433 chr11:63685593-63685605 chr11:63685763-63685772
15	RFX5	chr11:63685580-63686253	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:63685319-63685970	K562	blood:	n/a	n/a
17	USF2	chr11:63685365-63685715	H1-hESC	embryonic stem cell:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
18	POLR2A	chr11:63685279-63685600	ECC-1	luminal epithelium:	n/a	n/a
19	SMC3	chr11:63685297-63685934	Hela-S3	cervix:	n/a	n/a
20	YY1	chr11:63685558-63686008	K562	blood:	n/a	chr11:63685581-63685595 chr11:63685584-63685595 chr11:63685587-63685596
21	SMARCC1	chr11:63684811-63686243	Hela-S3	cervix:	n/a	n/a
22	SP1	chr11:63685119-63685949	H1-hESC	embryonic stem cell:	n/a	chr11:63685422-63685431 chr11:63685593-63685605 chr11:63685763-63685777 chr11:63685418-63685432 chr11:63685581-63685593 chr11:63685353-63685362 chr11:63685594-63685604 chr11:63685421-63685433 chr11:63685242-63685256 chr11:63685593-63685605 chr11:63685763-63685772
23	MAZ	chr11:63685264-63685981	K562	blood:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
24	USF1	chr11:63685308-63685784	ECC-1	luminal epithelium:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
25	ZBTB7A	chr11:63683835-63686004	K562	blood:	n/a	chr11:63684246-63684254
26	MXI1	chr11:63682495-63686664	SK-N-SH	brain:	n/a	chr11:63684285-63684294
27	HEY1	chr11:63685549-63686008	K562	blood:	n/a	chr11:63685552-63685561
28	E2F6	chr11:63685280-63686020	K562	blood:	n/a	chr11:63685498-63685508 chr11:63685583-63685592 chr11:63685938-63685950 chr11:63685539-63685548 chr11:63685587-63685596
29	SP4	chr11:63685212-63685624	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr11:63685333-63685750	H1-hESC	embryonic stem cell:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
31	CBX3	chr11:63685301-63686002	K562	blood:	n/a	n/a
32	HCFC1	chr11:63684350-63686140	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:63684295-63685818	H1-neurons	neurons:	n/a	n/a
34	MYC	chr11:63685250-63687411	H1-hESC	embryonic stem cell:	n/a	chr11:63686891-63686901 chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63685582-63685592 chr11:63687038-63687047 chr11:63687036-63687049 chr11:63686582-63686591 chr11:63687038-63687048 chr11:63687037-63687048 chr11:63685551-63685562 chr11:63687033-63687052 chr11:63687036-63687049 chr11:63687037-63687048 chr11:63685551-63685562
35	USF1	chr11:63685386-63685732	SK-N-SH_RA	brain:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
36	SP1	chr11:63685070-63685934	A549	lung:	n/a	chr11:63685422-63685431 chr11:63685593-63685605 chr11:63685763-63685777 chr11:63685418-63685432 chr11:63685581-63685593 chr11:63685353-63685362 chr11:63685594-63685604 chr11:63685421-63685433 chr11:63685242-63685256 chr11:63685593-63685605 chr11:63685763-63685772
37	POLR2A	chr11:63684773-63686607	HCT-116	colon:	n/a	n/a
38	TAF1	chr11:63684354-63685639	H1-neurons	neurons:	n/a	n/a
39	TAF1	chr11:63685169-63688081	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF12	chr11:63683863-63686057	A549	lung:	n/a	chr11:63683937-63683947 chr11:63684702-63684709
41	POLR2A	chr11:63685008-63688175	HCT-116	colon:	n/a	n/a
42	BHLHE40	chr11:63685341-63685669	A549	lung:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
43	USF1	chr11:63685301-63685759	H1-hESC	embryonic stem cell:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
44	MAX	chr11:63685122-63686133	H1-hESC	embryonic stem cell:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
45	TCF12	chr11:63685244-63685599	H1-hESC	embryonic stem cell:	n/a	n/a
46	TEAD4	chr11:63685210-63685615	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:63684392-63686554	HCT-116	colon:	n/a	n/a
48	ZBTB7A	chr11:63684529-63686115	K562	blood:	n/a	n/a
49	RAD21	chr11:63685242-63685895	H1-hESC	embryonic stem cell:	n/a	chr11:63685773-63685786
50	TBP	chr11:63685232-63685943	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63683018..63687693-chr11:63704987..63708969,9	MCF-7	breast:
2	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
3	chr11:63674570..63680304-chr11:63681753..63686803,9	MCF-7	breast:
4	chr11:63683781..63686730-chr11:63932079..63933586,2	K562	blood:
5	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
6	chr11:63605364..63607931-chr11:63685287..63688151,2	MCF-7	breast:
7	chr11:63684393..63687142-chr11:63694505..63697454,4	MCF-7	breast:
8	chr11:63663467..63666337-chr11:63684707..63687622,3	MCF-7	breast:
9	chr11:63685552..63686203-chr2:74374074..74375012,2	Hela-S3	cervix:
10	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
11	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
12	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
13	chr1:43312323..43313084-chr11:63685388..63685981,2	Hela-S3	cervix:
14	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
15	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
16	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
17	chr11:63655788..63657631-chr11:63684271..63685886,2	K562	blood:
18	chr11:63685160..63687637-chr11:63739324..63744119,5	K562	blood:
19	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
20	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
21	chr11:63684119..63685906-chr11:63753939..63756013,2	MCF-7	breast:
22	chr11:63684351..63687811-chr11:63692947..63696202,6	K562	blood:
23	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
24	chr11:63684384..63686159-chr11:63693977..63696781,2	MCF-7	breast:
25	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000256100	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	nsv897632	chr11:63670787-63688693	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897633	chr11:63670787-63691049	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897634	chr11:63670787-63698538	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897635	chr11:63674926-63688693	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv897636	chr11:63676067-63688693	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv897637	chr11:63676067-63691049	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv897638	chr11:63676562-63688693	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
16	esv3378640	chr11:63683601-63686149	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
17	esv3426165	chr11:63683826-63685724	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63682600-63685800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:63682600-63688800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:63682800-63685800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:63683000-63685600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:63683400-63685800	Active TSS	Hela-S3	cervix
13	chr11:63683400-63687200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:63683600-63685800	Active TSS	Fetal Brain Female	brain
15	chr11:63684000-63685600	Active TSS	Brain Cingulate Gyrus	brain
16	chr11:63684200-63685800	Active TSS	Aorta	Aorta
17	chr11:63684400-63686000	Enhancers	Gastric	stomach
18	chr11:63684400-63687400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:63684600-63688400	Enhancers	Fetal Brain Male	brain
20	chr11:63684800-63685600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:63684800-63685600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr11:63684800-63685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr11:63684800-63685600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:63684800-63685600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:63684800-63685600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:63684800-63685600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr11:63684800-63685600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:63684800-63685600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:63684800-63685600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:63684800-63685600	Flanking Active TSS	Esophagus	oesophagus
31	chr11:63684800-63685600	Flanking Active TSS	Fetal Thymus	thymus
32	chr11:63684800-63685600	Flanking Active TSS	Pancreas	Pancrea
33	chr11:63684800-63685600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:63684800-63685600	Flanking Active TSS	Dnd41	blood
35	chr11:63684800-63685800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:63684800-63685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:63684800-63685800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:63684800-63685800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:63684800-63685800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr11:63684800-63686000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:63684800-63686000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:63684800-63687200	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr11:63684800-63687400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:63684800-63687600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:63684800-63687800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr11:63684800-63688000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:63684800-63688000	Flanking Active TSS	Colonic Mucosa	Colon
48	chr11:63684800-63688000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr11:63684800-63688000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr11:63684800-63688200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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