Variant report

Variant	rs567918442
Chromosome Location	chr11:63685648-63685649
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	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	ZKSCAN1	chr11:63685138-63685760	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:63683879-63686201	K562	blood:	n/a	n/a
4	E2F6	chr11:63685393-63686101	K562	blood:	n/a	chr11:63685498-63685508 chr11:63685583-63685592 chr11:63685938-63685950 chr11:63685539-63685548 chr11:63685587-63685596
5	BHLHE40	chr11:63685246-63685824	GM12878	blood:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
6	SMARCB1	chr11:63683963-63686387	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr11:63685210-63685660	H1-hESC	embryonic stem cell:	n/a	n/a
8	CCNT2	chr11:63685334-63686012	K562	blood:	n/a	chr11:63685353-63685362 chr11:63685422-63685431
9	CHD2	chr11:63684457-63685997	Hela-S3	cervix:	n/a	chr11:63685353-63685363 chr11:63685039-63685049
10	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
11	RFX5	chr11:63685580-63686253	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:63685319-63685970	K562	blood:	n/a	n/a
13	IRF1	chr11:63685633-63685876	K562	blood:	n/a	n/a
14	USF2	chr11:63685365-63685715	H1-hESC	embryonic stem cell:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
15	SMC3	chr11:63685297-63685934	Hela-S3	cervix:	n/a	n/a
16	YY1	chr11:63685558-63686008	K562	blood:	n/a	chr11:63685581-63685595 chr11:63685584-63685595 chr11:63685587-63685596
17	SMARCC1	chr11:63684811-63686243	Hela-S3	cervix:	n/a	n/a
18	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
19	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
20	USF1	chr11:63685308-63685784	ECC-1	luminal epithelium:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
21	ZBTB7A	chr11:63683835-63686004	K562	blood:	n/a	chr11:63684246-63684254
22	TAF1	chr11:63685600-63685905	K562	blood:	n/a	n/a
23	MXI1	chr11:63682495-63686664	SK-N-SH	brain:	n/a	chr11:63684285-63684294
24	HEY1	chr11:63685549-63686008	K562	blood:	n/a	chr11:63685552-63685561
25	E2F6	chr11:63685280-63686020	K562	blood:	n/a	chr11:63685498-63685508 chr11:63685583-63685592 chr11:63685938-63685950 chr11:63685539-63685548 chr11:63685587-63685596
26	USF1	chr11:63685333-63685750	H1-hESC	embryonic stem cell:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
27	CBX3	chr11:63685301-63686002	K562	blood:	n/a	n/a
28	HCFC1	chr11:63684350-63686140	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:63684295-63685818	H1-neurons	neurons:	n/a	n/a
30	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
31	USF1	chr11:63685386-63685732	SK-N-SH_RA	brain:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
32	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
33	POLR2A	chr11:63685599-63685938	K562	blood:	n/a	n/a
34	POLR2A	chr11:63684773-63686607	HCT-116	colon:	n/a	n/a
35	TAF1	chr11:63685169-63688081	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF12	chr11:63683863-63686057	A549	lung:	n/a	chr11:63683937-63683947 chr11:63684702-63684709
37	POLR2A	chr11:63685008-63688175	HCT-116	colon:	n/a	n/a
38	BHLHE40	chr11:63685341-63685669	A549	lung:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
39	USF1	chr11:63685301-63685759	H1-hESC	embryonic stem cell:	n/a	chr11:63685551-63685560 chr11:63685552-63685561 chr11:63685552-63685561 chr11:63685546-63685562
40	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
41	NR2F2	chr11:63685614-63685926	K562	blood:	n/a	n/a
42	POLR2A	chr11:63684392-63686554	HCT-116	colon:	n/a	n/a
43	JUN	chr11:63685606-63685801	K562	blood:	n/a	n/a
44	ZBTB7A	chr11:63684529-63686115	K562	blood:	n/a	n/a
45	RAD21	chr11:63685242-63685895	H1-hESC	embryonic stem cell:	n/a	chr11:63685773-63685786
46	TBP	chr11:63685232-63685943	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:63684306-63685995	SK-N-MC	brain:	n/a	n/a
48	FOXP2	chr11:63685192-63685650	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr11:63685261-63686012	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:63685249-63685979	Hela-S3	cervix:	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
ENSG00000168005	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000167771	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:122 , 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	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:63683400-63685800	Active TSS	Hela-S3	cervix
12	chr11:63683400-63687200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:63683600-63685800	Active TSS	Fetal Brain Female	brain
14	chr11:63684200-63685800	Active TSS	Aorta	Aorta
15	chr11:63684400-63686000	Enhancers	Gastric	stomach
16	chr11:63684400-63687400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:63684600-63688400	Enhancers	Fetal Brain Male	brain
18	chr11:63684800-63685800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:63684800-63685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:63684800-63685800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:63684800-63685800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:63684800-63685800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr11:63684800-63686000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:63684800-63686000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:63684800-63687200	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr11:63684800-63687400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:63684800-63687600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:63684800-63687800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:63684800-63688000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:63684800-63688000	Flanking Active TSS	Colonic Mucosa	Colon
31	chr11:63684800-63688000	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr11:63684800-63688000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:63684800-63688200	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr11:63684800-63688200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr11:63685000-63685800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:63685000-63685800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:63685000-63685800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr11:63685000-63685800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr11:63685000-63685800	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr11:63685000-63685800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr11:63685000-63685800	Flanking Active TSS	Thymus	Thymus
42	chr11:63685000-63686200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr11:63685000-63686200	Enhancers	HSMMtube	muscle
44	chr11:63685000-63686200	Flanking Active TSS	K562	blood
45	chr11:63685000-63686400	Flanking Active TSS	A549	lung
46	chr11:63685000-63686800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:63685000-63688400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr11:63685200-63685800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr11:63685200-63686200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr11:63685200-63686400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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