Variant report

Variant	rs543905673
Chromosome Location	chr11:63684439-63684440
allele	-/CGG
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	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
3	POLR2A	chr11:63683879-63686201	K562	blood:	n/a	n/a
4	SMARCB1	chr11:63683963-63686387	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:63684426-63684711	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:63684404-63684729	ProgFib	skin:	n/a	n/a
7	HMGN3	chr11:63683793-63684679	K562	blood:	n/a	n/a
8	ZBTB7A	chr11:63683640-63684455	K562	blood:	n/a	chr11:63684246-63684254
9	MAX	chr11:63684364-63684853	MCF-7	breast:	n/a	n/a
10	YY1	chr11:63683410-63684450	HepG2	liver:	n/a	chr11:63684190-63684201 chr11:63684423-63684437 chr11:63683751-63683762
11	ZBTB7A	chr11:63683835-63686004	K562	blood:	n/a	chr11:63684246-63684254
12	SIN3AK20	chr11:63683696-63684470	PANC-1	pancreas:	n/a	n/a
13	MXI1	chr11:63682495-63686664	SK-N-SH	brain:	n/a	chr11:63684285-63684294
14	CCNT2	chr11:63683828-63684752	K562	blood:	n/a	chr11:63684679-63684688 chr11:63684223-63684232
15	SMC3	chr11:63682501-63684951	SK-N-SH	brain:	n/a	chr11:63682772-63682779 chr11:63682956-63682966 chr11:63683582-63683592 chr11:63684771-63684785
16	HCFC1	chr11:63684350-63686140	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:63684295-63685818	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr11:63684431-63684721	A549	lung:	n/a	n/a
19	POLR2A	chr11:63684416-63684664	HUVEC	blood vessel:	n/a	n/a
20	TAF1	chr11:63684354-63685639	H1-neurons	neurons:	n/a	n/a
21	TCF12	chr11:63683863-63686057	A549	lung:	n/a	chr11:63683937-63683947 chr11:63684702-63684709
22	EP300	chr11:63684285-63684974	ECC-1	luminal epithelium:	n/a	chr11:63684600-63684616
23	HA-E2F1	chr11:63684293-63685101	Hela-S3	cervix:	n/a	chr11:63685038-63685050 chr11:63685041-63685050
24	POLR2A	chr11:63684392-63686554	HCT-116	colon:	n/a	n/a
25	POLR2A	chr11:63684306-63685995	SK-N-MC	brain:	n/a	n/a
26	CTCF	chr11:63683320-63684922	SK-N-SH	brain:	n/a	chr11:63683943-63683956 chr11:63684856-63684865 chr11:63684015-63684033 chr11:63684772-63684781
27	POLR2A	chr11:63684362-63684702	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:63684375-63684698	A549	lung:	n/a	n/a
29	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
30	MAX	chr11:63684436-63684868	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr11:63684432-63684896	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB7A	chr11:63683823-63685847	ECC-1	luminal epithelium:	n/a	chr11:63684246-63684254
33	JUND	chr11:63684389-63684886	A549	lung:	n/a	chr11:63684508-63684517
34	MAX	chr11:63684419-63684923	A549	lung:	n/a	n/a
35	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
36	MAX	chr11:63684384-63684799	SK-N-SH	brain:	n/a	n/a
37	ZBTB7A	chr11:63683691-63686037	ECC-1	luminal epithelium:	n/a	chr11:63684246-63684254
38	POLR2A	chr11:63684434-63684711	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr11:63684308-63686086	ECC-1	luminal epithelium:	n/a	chr11:63684702-63684709
40	POLR2A	chr11:63684436-63684444	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:63684377-63685106	K562	blood:	n/a	n/a
42	POLR2A	chr11:63684373-63686412	Hela-S3	cervix:	n/a	n/a
43	TAF1	chr11:63683780-63684735	H1-hESC	embryonic stem cell:	n/a	n/a
44	UBTF	chr11:63684435-63684785	K562	blood:	n/a	n/a
45	E2F6	chr11:63684405-63684751	K562	blood:	n/a	n/a
46	POLR2A	chr11:63684373-63684815	MCF-7	breast:	n/a	n/a
47	E2F6	chr11:63684412-63684820	A549	lung:	n/a	n/a
48	TCF7L2	chr11:63684421-63687263	HCT-116	colon:	n/a	n/a
49	MAZ	chr11:63684031-63685062	HepG2	liver:	n/a	n/a
50	HEY1	chr11:63684428-63684704	K562	blood:	n/a	chr11:63684513-63684528

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	chr11:63684393..63687142-chr11:63694505..63697454,4	MCF-7	breast:
8	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
9	chr11:63683951..63686895-chr11:63953660..63955644,2	MCF-7	breast:
10	chr11:63668921..63671351-chr11:63684196..63686382,2	K562	blood:
11	chr11:63682343..63688338-chr11:63931257..63935493,5	K562	blood:
12	chr11:63666544..63671236-chr11:63682476..63685803,4	MCF-7	breast:
13	chr11:63673944..63681438-chr11:63681488..63685981,13	K562	blood:
14	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
15	chr11:63655788..63657631-chr11:63684271..63685886,2	K562	blood:
16	chr11:63682242..63690244-chr11:63703955..63713214,18	K562	blood:
17	chr11:63683456..63690158-chr11:63704393..63714412,17	K562	blood:
18	chr11:63684119..63685906-chr11:63753939..63756013,2	MCF-7	breast:
19	chr11:63684351..63687811-chr11:63692947..63696202,6	K562	blood:
20	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
21	chr11:63684384..63686159-chr11:63693977..63696781,2	MCF-7	breast:
22	chr11:63683295..63687930-chr11:63703819..63708534,6	MCF-7	breast:
23	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:

Variant related genes	Relation type
RCOR2	TF binding region
ENSG00000168439	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000256100	Chromatin interaction
ENSG00000176340	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:126 , 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	chr11:63682800-63685000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:63682800-63685200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:63682800-63685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63682800-63685800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:63682800-63687400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:63683000-63685000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63683000-63685000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:63683000-63685600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:63683000-63685800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:63683000-63686000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:63683000-63686000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:63683000-63686000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:63683000-63687200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr11:63683200-63688800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:63683400-63685000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:63683400-63685000	Active TSS	HSMM	muscle
19	chr11:63683400-63685400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:63683400-63685800	Active TSS	Hela-S3	cervix
21	chr11:63683400-63687200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:63683600-63685000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:63683600-63685000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr11:63683600-63685000	Active TSS	Ovary	ovary
25	chr11:63683600-63685800	Active TSS	Fetal Brain Female	brain
26	chr11:63683800-63684600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:63683800-63684600	Bivalent/Poised TSS	HepG2	liver
28	chr11:63683800-63685000	Active TSS	Brain Germinal Matrix	brain
29	chr11:63683800-63685000	Active TSS	Brain Substantia Nigra	brain
30	chr11:63683800-63685000	Active TSS	Colon Smooth Muscle	Colon
31	chr11:63683800-63685000	Active TSS	A549	lung
32	chr11:63683800-63685200	Active TSS	NHDF-Ad	bronchial
33	chr11:63684000-63684800	Active TSS	Small Intestine	intestine
34	chr11:63684000-63685000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:63684000-63685000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:63684000-63685000	Active TSS	Brain Anterior Caudate	brain
37	chr11:63684000-63685000	Active TSS	Thymus	Thymus
38	chr11:63684000-63685000	Active TSS	HSMMtube	muscle
39	chr11:63684000-63685000	Active TSS	K562	blood
40	chr11:63684000-63685600	Active TSS	Brain Cingulate Gyrus	brain
41	chr11:63684200-63684600	Weak transcription	Fetal Brain Male	brain
42	chr11:63684200-63684800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:63684200-63684800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:63684200-63684800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:63684200-63684800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:63684200-63684800	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr11:63684200-63684800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:63684200-63684800	Active TSS	Brain Hippocampus Middle	brain
49	chr11:63684200-63684800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:63684200-63684800	Weak transcription	Fetal Heart	heart

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