Variant report

Variant	rs564474884
Chromosome Location	chr11:48000907-48000908
allele	A/G
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	RAD21	chr11:48000848-48001322	MCF-7	breast:	n/a	n/a
2	TCF12	chr11:48000765-48002586	ECC-1	luminal epithelium:	n/a	n/a
3	TCF12	chr11:48000688-48002213	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr11:48000671-48002419	ECC-1	luminal epithelium:	n/a	chr11:48002136-48002146
5	RAD21	chr11:48000883-48001232	Hela-S3	cervix:	n/a	n/a
6	UBTF	chr11:48000801-48001450	K562	blood:	n/a	n/a
7	RAD21	chr11:48000764-48001311	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	RAD21	chr11:48000840-48001245	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr11:48000783-48002084	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3A	chr11:48000838-48003405	H1-hESC	embryonic stem cell:	n/a	chr11:48003033-48003042
12	ZBTB7A	chr11:48000869-48002429	ECC-1	luminal epithelium:	n/a	chr11:48002185-48002196
13	CTCF	chr11:48000900-48001050	HAc	cerebellar:	n/a	n/a
14	TCF7L2	chr11:48000854-48001140	PANC-1	pancreas:	n/a	chr11:48000935-48000944 chr11:48000935-48000942
15	SMC3	chr11:48000891-48001248	Hela-S3	cervix:	n/a	n/a
16	TCF12	chr11:48000860-48002008	A549	lung:	n/a	n/a
17	NFIC	chr11:48000753-48001542	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr11:48000816-48003491	ECC-1	luminal epithelium:	n/a	n/a
19	TCF7L2	chr11:48000759-48001342	Hela-S3	cervix:	n/a	chr11:48000935-48000944 chr11:48000935-48000942
20	MAX	chr11:48000716-48002036	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr11:48000794-48004052	A549	lung:	n/a	chr11:48002136-48002146

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

Variant related genes	Relation type
PTPRJ	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47993400-48001400	Weak transcription	Right Atrium	heart
2	chr11:47996400-48001000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr11:47996400-48001200	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:47996400-48001400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:47996400-48001400	Weak transcription	Stomach Mucosa	stomach
6	chr11:47996400-48001600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:47996400-48001600	Weak transcription	Fetal Lung	lung
8	chr11:47996600-48001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:47996600-48001200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:47996600-48001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:47996600-48001200	Weak transcription	Fetal Kidney	kidney
12	chr11:47996600-48001400	Weak transcription	Adipose Nuclei	Adipose
13	chr11:47996600-48001400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:47996600-48001400	Weak transcription	GM12878-XiMat	blood
15	chr11:47996600-48001400	Weak transcription	NHLF	lung
16	chr11:47996600-48001600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:47996800-48001000	Weak transcription	NHDF-Ad	bronchial
18	chr11:47996800-48001200	Weak transcription	NH-A	brain
19	chr11:47996800-48001400	Weak transcription	HSMM	muscle
20	chr11:47996800-48001600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:47996800-48001600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:47996800-48001600	Weak transcription	Osteobl	bone
23	chr11:47997000-48001600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:47997000-48001600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:47997200-48001000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:47997200-48001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:47997400-48001600	Weak transcription	Lung	lung
28	chr11:47997800-48001200	Weak transcription	Placenta	Placenta
29	chr11:47999600-48001400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:47999600-48001600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:48000400-48001200	Enhancers	Primary B cells from cord blood	blood
32	chr11:48000400-48001400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:48000400-48001400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:48000400-48001600	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:48000600-48001000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:48000600-48001000	Enhancers	A549	lung
37	chr11:48000600-48001200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr11:48000600-48001200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr11:48000600-48001200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr11:48000600-48001400	Enhancers	Hela-S3	cervix
41	chr11:48000600-48001600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:48000600-48002000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:48000800-48001000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:48000800-48001000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:48000800-48001200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:48000800-48001200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr11:48000800-48001200	Bivalent Enhancer	HepG2	liver
48	chr11:48000800-48001400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:48000800-48001400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:48000800-48001400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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