Variant report

Variant	rs547323396
Chromosome Location	chr11:59383989-59383990
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	MAFK	chr11:59383436-59384014	HepG2	liver:	n/a	n/a
2	BHLHE40	chr11:59383108-59384395	GM12878	blood:	n/a	chr11:59383252-59383268
3	RELA	chr11:59382506-59384310	GM12891	blood:	n/a	n/a
4	SP2	chr11:59382977-59384168	HepG2	liver:	n/a	chr11:59383424-59383447 chr11:59383441-59383451 chr11:59383876-59383886 chr11:59383542-59383565 chr11:59383744-59383767 chr11:59383538-59383548 chr11:59383304-59383327
5	TCF7L2	chr11:59382617-59384072	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:59382269-59384201	K562	blood:	n/a	n/a
7	POLR2A	chr11:59383639-59384303	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:59383833-59384204	GM12891	blood:	n/a	n/a
9	ARID3A	chr11:59383035-59384303	HepG2	liver:	n/a	n/a
10	SP1	chr11:59382996-59384423	HCT-116	colon:	n/a	chr11:59383247-59383259 chr11:59383731-59383752 chr11:59383903-59383913 chr11:59383597-59383608 chr11:59383242-59383254 chr11:59383772-59383786 chr11:59383243-59383252 chr11:59383903-59383913 chr11:59383203-59383216 chr11:59383243-59383252 chr11:59383248-59383257 chr11:59383874-59383895 chr11:59383529-59383550 chr11:59383413-59383434 chr11:59383777-59383786 chr11:59383626-59383637 chr11:59383244-59383253
11	IRF1	chr11:59383088-59384322	K562	blood:	n/a	chr11:59383540-59383549 chr11:59383728-59383742 chr11:59383240-59383254
12	POLR2A	chr11:59383722-59384394	GM12878	blood:	n/a	n/a
13	MAX	chr11:59382993-59384199	MCF-7	breast:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
14	MAX	chr11:59383413-59384059	H1-hESC	embryonic stem cell:	n/a	chr11:59383763-59383774 chr11:59383763-59383774
15	CREB1	chr11:59382978-59384086	ECC-1	luminal epithelium:	n/a	chr11:59383587-59383600
16	RELA	chr11:59383220-59384247	GM19099	blood:	n/a	n/a
17	TBP	chr11:59383305-59384139	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr11:59383093-59384133	K562	blood:	n/a	n/a
19	RUNX3	chr11:59382963-59384106	GM12878	blood:	n/a	n/a
20	SPI1	chr11:59383775-59384189	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:59382967-59384215	HUVEC	blood vessel:	n/a	n/a
22	CHD2	chr11:59382454-59384139	Hela-S3	cervix:	n/a	n/a
23	ELK1	chr11:59383113-59384055	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:59383494-59384388	K562	blood:	n/a	n/a
25	CREB1	chr11:59382593-59384228	GM12878	blood:	n/a	chr11:59383587-59383600
26	SP1	chr11:59383055-59384169	GM12878	blood:	n/a	chr11:59383247-59383259 chr11:59383731-59383752 chr11:59383903-59383913 chr11:59383597-59383608 chr11:59383242-59383254 chr11:59383772-59383786 chr11:59383243-59383252 chr11:59383903-59383913 chr11:59383203-59383216 chr11:59383243-59383252 chr11:59383248-59383257 chr11:59383874-59383895 chr11:59383529-59383550 chr11:59383413-59383434 chr11:59383777-59383786 chr11:59383626-59383637 chr11:59383244-59383253
27	SP2	chr11:59383017-59384017	H1-hESC	embryonic stem cell:	n/a	chr11:59383424-59383447 chr11:59383441-59383451 chr11:59383876-59383886 chr11:59383542-59383565 chr11:59383744-59383767 chr11:59383538-59383548 chr11:59383304-59383327
28	MAFK	chr11:59383074-59384125	Hela-S3	cervix:	n/a	n/a
29	USF2	chr11:59383323-59384282	Hela-S3	cervix:	n/a	n/a
30	MYC	chr11:59382388-59384323	NB4	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
31	USF1	chr11:59383508-59383990	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELF1	chr11:59382551-59384345	K562	blood:	n/a	chr11:59382687-59382699
33	POLR2A	chr11:59383833-59384217	ProgFib	skin:	n/a	n/a
34	HCFC1	chr11:59382375-59384474	Hela-S3	cervix:	n/a	n/a
35	USF2	chr11:59383459-59384091	H1-hESC	embryonic stem cell:	n/a	n/a
36	RFX5	chr11:59383139-59384352	Hela-S3	cervix:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
37	SP2	chr11:59382958-59384118	HepG2	liver:	n/a	chr11:59383424-59383447 chr11:59383441-59383451 chr11:59383876-59383886 chr11:59383542-59383565 chr11:59383744-59383767 chr11:59383538-59383548 chr11:59383304-59383327
38	CHD1	chr11:59383869-59384257	GM12878	blood:	n/a	n/a
39	CHD2	chr11:59383015-59384265	GM12878	blood:	n/a	n/a
40	GTF2F1	chr11:59383693-59384256	K562	blood:	n/a	n/a
41	POLR2A	chr11:59383746-59384182	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:59383773-59384110	HepG2	liver:	n/a	n/a
43	MYC	chr11:59381776-59384318	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
44	SIN3A	chr11:59383082-59384252	GM12878	blood:	n/a	chr11:59383253-59383266 chr11:59383255-59383266
45	USF1	chr11:59383397-59383991	H1-hESC	embryonic stem cell:	n/a	n/a
46	SRF	chr11:59383062-59384036	ECC-1	luminal epithelium:	n/a	n/a
47	FOS	chr11:59383118-59384080	K562	blood:	n/a	chr11:59383442-59383451 chr11:59383245-59383254
48	ATF2	chr11:59383226-59384152	GM12878	blood:	n/a	n/a
49	SP1	chr11:59382978-59384230	K562	blood:	n/a	chr11:59383247-59383259 chr11:59383731-59383752 chr11:59383903-59383913 chr11:59383597-59383608 chr11:59383242-59383254 chr11:59383772-59383786 chr11:59383243-59383252 chr11:59383903-59383913 chr11:59383203-59383216 chr11:59383243-59383252 chr11:59383248-59383257 chr11:59383874-59383895 chr11:59383529-59383550 chr11:59383413-59383434 chr11:59383777-59383786 chr11:59383626-59383637 chr11:59383244-59383253
50	MAFK	chr11:59383259-59384127	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59382346..59384021-chr11:59576839..59579644,2	K562	blood:
3	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
4	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
5	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
6	chr11:59382734..59385576-chr11:59440781..59442919,2	K562	blood:
7	chr11:59324538..59326283-chr11:59383295..59385264,2	K562	blood:
8	chr11:59383955..59385521-chr11:59435044..59437957,2	MCF-7	breast:
9	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
10	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
11	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX3-2	chr11:59383619-59385512	NONHSAT021532

Variant related genes	Relation type
ENSG00000255139	TF binding region
OSBP	TF binding region
ENSG00000255139	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000166902	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000252893	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3356175	chr11:59382001-59384549	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1797571	chr11:59383323-59424688	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797737	chr11:59383323-59424688	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59380000-59384400	Active TSS	Psoas Muscle	Psoas
2	chr11:59380600-59384400	Active TSS	Fetal Muscle Trunk	muscle
3	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:59381400-59384400	Active TSS	Aorta	Aorta
5	chr11:59381400-59384400	Active TSS	Ovary	ovary
6	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:59381600-59384000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:59381600-59384400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:59381600-59384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:59381800-59384000	Active TSS	GM12878-XiMat	blood
11	chr11:59381800-59384000	Active TSS	K562	blood
12	chr11:59381800-59384000	Active TSS	NHDF-Ad	bronchial
13	chr11:59381800-59384200	Active TSS	Fetal Intestine Small	intestine
14	chr11:59381800-59384400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr11:59381800-59384400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:59381800-59384400	Active TSS	Left Ventricle	heart
17	chr11:59382000-59384000	Active TSS	HMEC	breast
18	chr11:59382000-59384000	Active TSS	HSMMtube	muscle
19	chr11:59382000-59384200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:59382000-59384200	Active TSS	Pancreas	Pancrea
21	chr11:59382000-59384400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr11:59382000-59384400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:59382000-59384400	Active TSS	Esophagus	oesophagus
24	chr11:59382200-59384000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:59382200-59384200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:59382200-59384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:59382200-59384400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:59382200-59384400	Active TSS	Lung	lung
29	chr11:59382200-59384400	Active TSS	Small Intestine	intestine
30	chr11:59382200-59384600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:59382200-59384800	Active TSS	A549	lung
32	chr11:59382400-59384000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:59382400-59384000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:59382400-59384000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:59382400-59384000	Active TSS	Placenta	Placenta
36	chr11:59382400-59384000	Active TSS	Rectal Smooth Muscle	rectum
37	chr11:59382400-59384000	Active TSS	Hela-S3	cervix
38	chr11:59382400-59384000	Active TSS	HSMM	muscle
39	chr11:59382400-59384000	Active TSS	NH-A	brain
40	chr11:59382400-59384000	Active TSS	NHLF	lung
41	chr11:59382400-59384000	Active TSS	Osteobl	bone
42	chr11:59382400-59384200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:59382400-59384200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:59382400-59384200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:59382400-59384200	Active TSS	Brain Hippocampus Middle	brain
46	chr11:59382400-59384200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:59382400-59384200	Active TSS	Fetal Intestine Large	intestine
48	chr11:59382400-59384200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:59382400-59384200	Active TSS	NHEK	skin
50	chr11:59382400-59384400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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