Variant report

Variant	rs577253394
Chromosome Location	chr11:48001238-48001239
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	CTCF	chr11:48001220-48001370	Hela-S3	cervix:	n/a	n/a
2	RAD21	chr11:48000848-48001322	MCF-7	breast:	n/a	n/a
3	TCF12	chr11:48000765-48002586	ECC-1	luminal epithelium:	n/a	n/a
4	BACH1	chr11:48001120-48001869	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:48001023-48001261	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr11:48000688-48002213	ECC-1	luminal epithelium:	n/a	n/a
7	E2F4	chr11:48000939-48001322	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr11:48000671-48002419	ECC-1	luminal epithelium:	n/a	chr11:48002136-48002146
9	MAFK	chr11:48001116-48001441	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr11:48001220-48001370	HepG2	liver:	n/a	n/a
11	REST	chr11:48000945-48001664	A549	lung:	n/a	n/a
12	POLR2A	chr11:48000948-48001942	ECC-1	luminal epithelium:	n/a	n/a
13	UBTF	chr11:48000801-48001450	K562	blood:	n/a	n/a
14	MAZ	chr11:48000925-48004054	Hela-S3	cervix:	n/a	chr11:48002136-48002146
15	RAD21	chr11:48000764-48001311	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBP	chr11:48000962-48001332	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr11:48000270-48002405	ECC-1	luminal epithelium:	n/a	chr11:48002175-48002191 chr11:48002181-48002197 chr11:48001605-48001621 chr11:48002241-48002257 chr11:48002238-48002254 chr11:48002097-48002113
18	RAD21	chr11:48000840-48001245	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr11:48000910-48001362	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr11:48000783-48002084	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr11:48001120-48001270	HAc	cerebellar:	n/a	n/a
22	CTBP2	chr11:48000968-48001868	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3A	chr11:48000838-48003405	H1-hESC	embryonic stem cell:	n/a	chr11:48003033-48003042
24	ZBTB7A	chr11:48000869-48002429	ECC-1	luminal epithelium:	n/a	chr11:48002185-48002196
25	SMC3	chr11:48000891-48001248	Hela-S3	cervix:	n/a	n/a
26	TCF12	chr11:48000860-48002008	A549	lung:	n/a	n/a
27	NFIC	chr11:48000753-48001542	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr11:48000816-48003491	ECC-1	luminal epithelium:	n/a	n/a
29	SMC3	chr11:48001053-48001321	HepG2	liver:	n/a	n/a
30	TCF7L2	chr11:48000759-48001342	Hela-S3	cervix:	n/a	chr11:48000935-48000944 chr11:48000935-48000942
31	RAD21	chr11:48000937-48001242	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr11:48000716-48002036	ECC-1	luminal epithelium:	n/a	n/a
33	GTF2F1	chr11:48001044-48001240	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr11:48001033-48003943	IMR90	lung:	n/a	chr11:48002136-48002146
35	MAX	chr11:48000794-48004052	A549	lung:	n/a	chr11:48002136-48002146
36	USF2	chr11:48001218-48001418	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47955684..47956212-chr11:48000981..48001494,2	MCF-7	breast:
2	chr11:48000640..48001500-chr11:48131020..48132149,3	MCF-7	breast:
3	chr11:47998626..48001544-chr11:48011540..48013257,2	MCF-7	breast:

Variant related genes	Relation type
PTPRJ	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
13	nsv317	chr11:47995903-48007266	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3393084	chr11:48000076-48004474	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3373486	chr11:48001001-48003549	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3344602	chr11:48001176-48003699	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr11:47993400-48001400	Weak transcription	Right Atrium	heart
2	chr11:47996400-48001400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr11:47996400-48001400	Weak transcription	Stomach Mucosa	stomach
4	chr11:47996400-48001600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:47996400-48001600	Weak transcription	Fetal Lung	lung
6	chr11:47996600-48001400	Weak transcription	Adipose Nuclei	Adipose
7	chr11:47996600-48001400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:47996600-48001400	Weak transcription	GM12878-XiMat	blood
9	chr11:47996600-48001400	Weak transcription	NHLF	lung
10	chr11:47996600-48001600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:47996800-48001400	Weak transcription	HSMM	muscle
12	chr11:47996800-48001600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:47996800-48001600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:47996800-48001600	Weak transcription	Osteobl	bone
15	chr11:47997000-48001600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:47997000-48001600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:47997400-48001600	Weak transcription	Lung	lung
18	chr11:47999600-48001400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:47999600-48001600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:48000400-48001400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:48000400-48001400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:48000400-48001600	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:48000600-48001400	Enhancers	Hela-S3	cervix
24	chr11:48000600-48001600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:48000600-48002000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:48000800-48001400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr11:48000800-48001400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:48000800-48001400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr11:48000800-48001400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:48000800-48001400	Enhancers	Brain Substantia Nigra	brain
31	chr11:48000800-48001400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr11:48000800-48001600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:48000800-48001600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:48000800-48001600	Enhancers	Liver	Liver
35	chr11:48000800-48001600	Bivalent Enhancer	Fetal Thymus	thymus
36	chr11:48000800-48002000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:48001000-48001400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:48001000-48001400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr11:48001000-48001400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:48001000-48001400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:48001000-48001400	Enhancers	Fetal Brain Female	brain
42	chr11:48001000-48001400	Enhancers	Fetal Intestine Large	intestine
43	chr11:48001000-48001400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:48001000-48001400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
45	chr11:48001000-48001600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:48001000-48001600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:48001000-48001600	Bivalent Enhancer	Fetal Stomach	stomach
48	chr11:48001000-48001600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:48001000-48001600	Enhancers	K562	blood
50	chr11:48001000-48001600	Enhancers	NHDF-Ad	bronchial

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