Variant report

Variant	rs547892623
Chromosome Location	chr11:63684260-63684261
allele	A/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	chr11:63683729-63684952	A549	lung:	n/a	n/a
2	POLR2A	chr11:63683697-63684279	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:63682620-63684442	SK-N-SH	brain:	n/a	chr11:63682798-63682808 chr11:63684308-63684321 chr11:63684016-63684035 chr11:63682798-63682810 chr11:63683940-63683953 chr11:63682796-63682809 chr11:63683756-63683766
4	POLR2A	chr11:63683879-63686201	K562	blood:	n/a	n/a
5	SMARCB1	chr11:63683963-63686387	Hela-S3	cervix:	n/a	n/a
6	HMGN3	chr11:63683793-63684679	K562	blood:	n/a	n/a
7	ZBTB7A	chr11:63683640-63684455	K562	blood:	n/a	chr11:63684246-63684254
8	ZBTB7A	chr11:63683856-63684382	HepG2	liver:	n/a	chr11:63684246-63684254
9	MAX	chr11:63683765-63684313	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr11:63683410-63684450	HepG2	liver:	n/a	chr11:63684190-63684201 chr11:63684423-63684437 chr11:63683751-63683762
11	POLR2A	chr11:63683377-63684284	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr11:63683302-63684289	MCF-7	breast:	n/a	n/a
13	ZBTB7A	chr11:63683835-63686004	K562	blood:	n/a	chr11:63684246-63684254
14	SIN3AK20	chr11:63683696-63684470	PANC-1	pancreas:	n/a	n/a
15	MXI1	chr11:63682495-63686664	SK-N-SH	brain:	n/a	chr11:63684285-63684294
16	BACH1	chr11:63683925-63684279	H1-hESC	embryonic stem cell:	n/a	n/a
17	CCNT2	chr11:63683828-63684752	K562	blood:	n/a	chr11:63684679-63684688 chr11:63684223-63684232
18	SMC3	chr11:63682501-63684951	SK-N-SH	brain:	n/a	chr11:63682772-63682779 chr11:63682956-63682966 chr11:63683582-63683592 chr11:63684771-63684785
19	JUND	chr11:63683907-63684290	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:63683525-63684412	PFSK-1	brain:	n/a	n/a
21	TCF12	chr11:63683863-63686057	A549	lung:	n/a	chr11:63683937-63683947 chr11:63684702-63684709
22	CTCF	chr11:63683320-63684922	SK-N-SH	brain:	n/a	chr11:63683943-63683956 chr11:63684856-63684865 chr11:63684015-63684033 chr11:63684772-63684781
23	RCOR1	chr11:63683969-63684314	K562	blood:	n/a	n/a
24	RAD21	chr11:63683748-63684298	ECC-1	luminal epithelium:	n/a	chr11:63684016-63684035 chr11:63683940-63683953 chr11:63683756-63683766
25	HEY1	chr11:63683963-63684296	K562	blood:	n/a	n/a
26	CREB1	chr11:63683869-63684390	A549	lung:	n/a	n/a
27	REST	chr11:63683413-63686259	H1-neurons	neurons:	n/a	chr11:63685888-63685898 chr11:63683931-63683944 chr11:63683635-63683648 chr11:63684423-63684436 chr11:63683688-63683701 chr11:63684253-63684266 chr11:63685102-63685115
28	ZBTB7A	chr11:63683823-63685847	ECC-1	luminal epithelium:	n/a	chr11:63684246-63684254
29	EGR1	chr11:63684181-63684406	K562	blood:	n/a	chr11:63684280-63684287
30	POLR2A	chr11:63683845-63684280	K562	blood:	n/a	n/a
31	ATF2	chr11:63683768-63684386	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr11:63683780-63686383	HepG2	liver:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
33	ZBTB7A	chr11:63683691-63686037	ECC-1	luminal epithelium:	n/a	chr11:63684246-63684254
34	TAF1	chr11:63683780-63684735	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAZ	chr11:63684031-63685062	HepG2	liver:	n/a	n/a
36	RAD21	chr11:63683722-63684314	H1-hESC	embryonic stem cell:	n/a	chr11:63684016-63684035 chr11:63683940-63683953 chr11:63683756-63683766
37	MAX	chr11:63683788-63684416	K562	blood:	n/a	n/a
38	CTCF	chr11:63683749-63684763	A549	lung:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
39	MAZ	chr11:63683620-63685977	IMR90	lung:	n/a	chr11:63685552-63685561 chr11:63685551-63685561 chr11:63685594-63685604 chr11:63685582-63685592 chr11:63685551-63685562 chr11:63685551-63685562
40	SIN3A	chr11:63683280-63686060	H1-hESC	embryonic stem cell:	n/a	chr11:63683937-63683950 chr11:63683933-63683944 chr11:63683931-63683944 chr11:63684423-63684436 chr11:63684305-63684316
41	CTCF	chr11:63684180-63684330	HMEC	breast:	n/a	n/a
42	POLR2A	chr11:63683701-63684307	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:63683804-63684300	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:63683627-63684343	K562	blood:	n/a	chr11:63683943-63683956 chr11:63684015-63684033
45	POLR2A	chr11:63683767-63688286	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:63683185-63684938	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:63683925-63684813	HepG2	liver:	n/a	n/a
48	CTCF	chr11:63684200-63684350	HPF	lung:	n/a	n/a
49	THAP1	chr11:63684131-63684413	K562	blood:	n/a	n/a
50	POLR2A	chr11:63683933-63685735	HepG2	liver:	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	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
6	chr11:63604824..63606885-chr11:63683071..63686195,3	K562	blood:
7	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
8	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
9	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
10	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
11	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
12	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
13	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
14	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
15	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
16	chr11:63684119..63685906-chr11:63753939..63756013,2	MCF-7	breast:
17	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
18	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:
19	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000133315	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000072518	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:127 , 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	chr11:63682800-63684400	Bivalent Enhancer	Spleen	Spleen
4	chr11:63682800-63685000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:63682800-63685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:63682800-63685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:63682800-63685800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:63683000-63685000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:63683000-63685000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:63683000-63685600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:63683200-63684400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:63683200-63684400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:63683200-63684400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:63683200-63684400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:63683200-63684400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:63683200-63684400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:63683400-63684400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:63683400-63684400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr11:63683400-63684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:63683400-63684400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:63683400-63684400	Active TSS	Brain Angular Gyrus	brain
29	chr11:63683400-63684400	Active TSS	Fetal Kidney	kidney
30	chr11:63683400-63684400	Flanking Active TSS	Fetal Thymus	thymus
31	chr11:63683400-63684400	Flanking Active TSS	Pancreas	Pancrea
32	chr11:63683400-63684400	Flanking Active TSS	Right Ventricle	heart
33	chr11:63683400-63684400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr11:63683400-63684400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr11:63683400-63684400	Flanking Active TSS	Dnd41	blood
36	chr11:63683400-63685000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:63683400-63685000	Active TSS	HSMM	muscle
38	chr11:63683400-63685400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:63683400-63685800	Active TSS	Hela-S3	cervix
40	chr11:63683400-63687200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:63683600-63684400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:63683600-63684400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:63683600-63684400	Flanking Active TSS	Colonic Mucosa	Colon
44	chr11:63683600-63684400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr11:63683600-63684400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:63683600-63685000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:63683600-63685000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:63683600-63685000	Active TSS	Ovary	ovary
49	chr11:63683600-63685800	Active TSS	Fetal Brain Female	brain
50	chr11:63683800-63684400	Flanking Active TSS	Primary B cells from cord blood	blood

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