Variant report

Variant	rs550256264
Chromosome Location	chr11:47377102-47377103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:215)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:215 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:47376683-47377413	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr11:47376751-47377131	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr11:47376746-47377113	A549	lung:	n/a	n/a
4	CTCF	chr11:47376779-47377110	MCF-7	breast:	n/a	n/a
5	FOXP2	chr11:47376706-47377141	PFSK-1	brain:	n/a	n/a
6	RAD21	chr11:47376669-47377327	A549	lung:	n/a	n/a
7	EP300	chr11:47376683-47377184	T-47D	breast:	n/a	n/a
8	MYC	chr11:47376871-47377129	MCF-7	breast:	n/a	chr11:47377117-47377127
9	EGR1	chr11:47376818-47377606	ECC-1	luminal epithelium:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
10	YY1	chr11:47376664-47377180	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr11:47376810-47377104	HepG2	liver:	n/a	n/a
12	CBX3	chr11:47376769-47377105	K562	blood:	n/a	n/a
13	ELF1	chr11:47376800-47377234	K562	blood:	n/a	n/a
14	GABPA	chr11:47376652-47377321	K562	blood:	n/a	n/a
15	MAZ	chr11:47376744-47377389	K562	blood:	n/a	chr11:47377117-47377127
16	SP1	chr11:47376655-47377249	A549	lung:	n/a	chr11:47377116-47377128 chr11:47377103-47377115 chr11:47377103-47377115
17	FOXA2	chr11:47376641-47377251	A549	lung:	n/a	n/a
18	EP300	chr11:47376632-47377210	A549	lung:	n/a	n/a
19	TAF7	chr11:47376663-47377102	H1-hESC	embryonic stem cell:	n/a	n/a
20	GATA3	chr11:47376681-47377357	MCF-7	breast:	n/a	n/a
21	MYC	chr11:47376867-47377553	MCF-7	breast:	n/a	chr11:47377117-47377127
22	MAZ	chr11:47376746-47377136	Hela-S3	cervix:	n/a	chr11:47377117-47377127
23	CTCF	chr11:47376618-47377151	T-47D	breast:	n/a	n/a
24	ZBTB7A	chr11:47376840-47377145	HepG2	liver:	n/a	chr11:47377123-47377131
25	CTCF	chr11:47376767-47377127	K562	blood:	n/a	n/a
26	MAZ	chr11:47376355-47377350	IMR90	lung:	n/a	chr11:47377117-47377127
27	ZNF143	chr11:47376747-47377144	K562	blood:	n/a	n/a
28	FOXM1	chr11:47376693-47377325	MCF-7	breast:	n/a	n/a
29	NR2F2	chr11:47376604-47377258	MCF-7	breast:	n/a	n/a
30	POLR2A	chr11:47376692-47377181	PANC-1	pancreas:	n/a	n/a
31	CREB1	chr11:47376688-47377168	A549	lung:	n/a	n/a
32	REST	chr11:47376795-47377112	SK-N-SH	brain:	n/a	n/a
33	TEAD4	chr11:47376771-47377181	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr11:47376752-47377140	A549	lung:	n/a	n/a
35	ZBTB33	chr11:47376774-47377167	HCT-116	colon:	n/a	n/a
36	BCL3	chr11:47376717-47377187	A549	lung:	n/a	n/a
37	RAD21	chr11:47376729-47377167	HepG2	liver:	n/a	n/a
38	SIN3A	chr11:47376736-47377132	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr11:47376721-47377270	A549	lung:	n/a	chr11:47377117-47377127
40	ZBTB33	chr11:47376717-47377113	A549	lung:	n/a	n/a
41	YY1	chr11:47376747-47377168	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr11:47376865-47377127	HepG2	liver:	n/a	chr11:47377117-47377127
43	SMC3	chr11:47376646-47378043	SK-N-SH	brain:	n/a	n/a
44	CCNT2	chr11:47376692-47377193	K562	blood:	n/a	n/a
45	RAD21	chr11:47376635-47377219	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:47376638-47377294	A549	lung:	n/a	n/a
47	CEBPB	chr11:47376786-47377117	K562	blood:	n/a	n/a
48	SMC3	chr11:47376703-47377180	Hela-S3	cervix:	n/a	n/a
49	ESRRA	chr11:47376775-47377191	HepG2	liver:	n/a	n/a
50	TCF12	chr11:47376640-47377267	A549	lung:	n/a	n/a

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47198044..47199863-chr11:47376430..47377442,22	MCF-7	breast:
2	chr11:47198719..47199807-chr11:47376539..47377421,5	MCF-7	breast:
3	chr11:47174382..47175264-chr11:47376452..47377398,3	K562	blood:
4	chr11:47200721..47201457-chr11:47376536..47377159,2	MCF-7	breast:
5	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
6	chr11:47181895..47183396-chr11:47375701..47377914,2	K562	blood:
7	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
8	chr11:47376520..47377472-chr11:47429288..47430230,5	MCF-7	breast:
9	chr11:47192862..47193483-chr11:47376524..47377353,2	MCF-7	breast:
10	chr11:47255623..47256557-chr11:47376503..47377353,4	MCF-7	breast:
11	chr11:47333775..47334596-chr11:47376542..47377210,2	MCF-7	breast:
12	chr11:47375322..47377649-chr11:47398628..47401440,2	K562	blood:
13	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
14	chr11:47200654..47202025-chr11:47376839..47377503,3	MCF-7	breast:
15	chr11:47376680..47377459-chr11:47395174..47396139,4	K562	blood:
16	chr11:47196513..47199902-chr11:47376301..47378521,3	K562	blood:
17	chr11:47207118..47209265-chr11:47376367..47377900,2	K562	blood:
18	chr11:47182168..47183177-chr11:47376486..47377401,4	MCF-7	breast:
19	chr11:47376407..47377483-chr11:47475495..47476359,4	K562	blood:
20	chr11:47374545..47377220-chr11:47429148..47430894,2	K562	blood:
21	chr11:47332627..47333397-chr11:47376473..47377359,2	MCF-7	breast:
22	chr11:47352757..47353542-chr11:47376561..47377283,2	MCF-7	breast:
23	chr11:47182335..47183369-chr11:47376517..47377453,5	K562	blood:
24	chr11:47278768..47280166-chr11:47376437..47377439,9	K562	blood:
25	chr11:47376825..47377467-chr11:47475964..47476482,2	MCF-7	breast:
26	chr11:47182519..47183758-chr11:47376283..47377406,7	MCF-7	breast:
27	chr11:47198489..47199561-chr11:47376477..47377464,4	K562	blood:
28	chr11:47279574..47280107-chr11:47376721..47377412,2	MCF-7	breast:
29	chr11:47255280..47255866-chr11:47376834..47377535,2	K562	blood:
30	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
31	chr11:47376852..47377400-chr11:47384721..47385536,2	K562	blood:
32	chr11:47376479..47377526-chr11:47429514..47430732,6	K562	blood:
33	chr11:47292004..47292682-chr11:47376539..47377229,2	MCF-7	breast:
34	chr11:47280680..47281533-chr11:47376519..47377168,3	MCF-7	breast:
35	chr11:47200081..47201308-chr11:47376446..47377426,4	K562	blood:
36	chr11:47340547..47341169-chr11:47376503..47377448,2	MCF-7	breast:
37	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
38	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:
39	chr11:47376464..47377315-chr11:47421306..47422272,2	K562	blood:

No data

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000255197	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv3392657	chr11:47376226-47378724	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3380389	chr11:47376276-47379974	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv3337151	chr11:47376276-47380074	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	esv3439899	chr11:47376276-47381174	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:47373800-47377200	Weak transcription	Gastric	stomach
4	chr11:47374200-47377200	Enhancers	Fetal Heart	heart
5	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:47375600-47377800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
12	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:47375800-47377400	Active TSS	Brain Cingulate Gyrus	brain
14	chr11:47375800-47377600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:47376000-47377200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:47376000-47377200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:47376200-47377200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:47376200-47377200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:47376200-47377200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:47376200-47377200	Active TSS	Fetal Intestine Small	intestine
21	chr11:47376200-47377200	Active TSS	Psoas Muscle	Psoas
22	chr11:47376200-47377400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:47376200-47377400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:47376200-47377400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:47376200-47377400	Enhancers	Stomach Mucosa	stomach
26	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr11:47376400-47377200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr11:47376400-47377200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:47376400-47377200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47376400-47377200	Active TSS	Brain Angular Gyrus	brain
31	chr11:47376400-47377200	Active TSS	Duodenum Mucosa	Duodenum
32	chr11:47376400-47377200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:47376400-47377200	Active TSS	Right Atrium	heart
34	chr11:47376400-47377200	Active TSS	Right Ventricle	heart
35	chr11:47376400-47377200	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:47376400-47377400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:47376400-47377400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:47376400-47377400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:47376400-47377400	Active TSS	Brain Anterior Caudate	brain
40	chr11:47376400-47377400	Active TSS	Brain Substantia Nigra	brain
41	chr11:47376400-47377400	Active TSS	Colon Smooth Muscle	Colon
42	chr11:47376400-47377400	Active TSS	Fetal Intestine Large	intestine
43	chr11:47376400-47377400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:47376400-47377400	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:47376400-47377400	Active TSS	HSMM	muscle
46	chr11:47376400-47377600	Enhancers	Placenta	Placenta
47	chr11:47376600-47377200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:47376600-47377200	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:47376600-47377200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:47376600-47377200	Active TSS	Colonic Mucosa	Colon

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