Variant report

Variant	rs539583133
Chromosome Location	chr11:59384095-59384096
allele	C/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	BHLHE40	chr11:59383108-59384395	GM12878	blood:	n/a	chr11:59383252-59383268
2	RELA	chr11:59382506-59384310	GM12891	blood:	n/a	n/a
3	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
4	POLR2A	chr11:59382269-59384201	K562	blood:	n/a	n/a
5	POLR2A	chr11:59383639-59384303	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:59383833-59384204	GM12891	blood:	n/a	n/a
7	ARID3A	chr11:59383035-59384303	HepG2	liver:	n/a	n/a
8	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
9	IRF1	chr11:59383088-59384322	K562	blood:	n/a	chr11:59383540-59383549 chr11:59383728-59383742 chr11:59383240-59383254
10	POLR2A	chr11:59383722-59384394	GM12878	blood:	n/a	n/a
11	MAX	chr11:59382993-59384199	MCF-7	breast:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
12	RELA	chr11:59383220-59384247	GM19099	blood:	n/a	n/a
13	TBP	chr11:59383305-59384139	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr11:59383093-59384133	K562	blood:	n/a	n/a
15	RUNX3	chr11:59382963-59384106	GM12878	blood:	n/a	n/a
16	SPI1	chr11:59383775-59384189	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:59382967-59384215	HUVEC	blood vessel:	n/a	n/a
18	CHD2	chr11:59382454-59384139	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:59383494-59384388	K562	blood:	n/a	n/a
20	CREB1	chr11:59382593-59384228	GM12878	blood:	n/a	chr11:59383587-59383600
21	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
22	MAFK	chr11:59383074-59384125	Hela-S3	cervix:	n/a	n/a
23	USF2	chr11:59383323-59384282	Hela-S3	cervix:	n/a	n/a
24	MYC	chr11:59382388-59384323	NB4	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
25	ELF1	chr11:59382551-59384345	K562	blood:	n/a	chr11:59382687-59382699
26	POLR2A	chr11:59383833-59384217	ProgFib	skin:	n/a	n/a
27	HCFC1	chr11:59382375-59384474	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr11:59383139-59384352	Hela-S3	cervix:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
29	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
30	CHD1	chr11:59383869-59384257	GM12878	blood:	n/a	n/a
31	CHD2	chr11:59383015-59384265	GM12878	blood:	n/a	n/a
32	GTF2F1	chr11:59383693-59384256	K562	blood:	n/a	n/a
33	POLR2A	chr11:59383746-59384182	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:59383773-59384110	HepG2	liver:	n/a	n/a
35	MYC	chr11:59381776-59384318	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
36	SIN3A	chr11:59383082-59384252	GM12878	blood:	n/a	chr11:59383253-59383266 chr11:59383255-59383266
37	ATF2	chr11:59383226-59384152	GM12878	blood:	n/a	n/a
38	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
39	MAFK	chr11:59383259-59384127	K562	blood:	n/a	n/a
40	TAF1	chr11:59383711-59384109	K562	blood:	n/a	n/a
41	RFX5	chr11:59382116-59384446	SK-N-SH	brain:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
42	SIN3AK20	chr11:59383753-59384123	SK-N-SH	brain:	n/a	n/a
43	TBL1XR1	chr11:59384024-59384224	K562	blood:	n/a	n/a
44	TAF1	chr11:59382632-59384292	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr11:59382032-59384388	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
46	TAF1	chr11:59383504-59384128	PFSK-1	brain:	n/a	n/a
47	MAX	chr11:59382986-59384333	SK-N-SH	brain:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
48	ELF1	chr11:59382486-59384312	GM12878	blood:	n/a	chr11:59382687-59382699
49	MAX	chr11:59382276-59384312	HepG2	liver:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
50	TCF12	chr11:59382956-59384384	A549	lung:	n/a	chr11:59384136-59384144

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59384084-59384134	PrEC	prostate:	n/a
2	chr11:59384084-59384134	SK-N-SH	brain:	n/a
3	chr11:59384084-59384134	AG09309	skin:	n/a
4	chr11:59384084-59384134	HUVEC	blood vessel:	n/a
5	chr11:59384084-59384134	LNCaP	prostate:	n/a
6	chr11:59384084-59384134	T-47D	breast:	n/a
7	chr11:59384084-59384134	ProgFib	skin:	n/a
8	chr11:59384084-59384134	HepG2	liver:	n/a
9	chr11:59384084-59384134	NB4	blood:	n/a
10	chr11:59384084-59384134	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:59384084-59384134	AG09319	gingival:	n/a
12	chr11:59384084-59384134	IMR90	lung:	fetal
13	chr11:59384084-59384134	GM12891	blood:	n/a
14	chr11:59384084-59384134	HRPEpiC	eye:	n/a
15	chr11:59384084-59384134	NH-A	brain:	n/a
16	chr11:59384084-59384134	HCF	heart:	n/a
17	chr11:59384084-59384134	AG04450	lung:	fetal
18	chr11:59384084-59384134	SK-N-MC	brain:	n/a
19	chr11:59384084-59384134	ECC-1	luminal epithelium:	n/a
20	chr11:59384084-59384134	Hela-S3	cervix:	n/a
21	chr11:59384084-59384134	PFSK-1	brain:	n/a
22	chr11:59384084-59384134	HL-60	blood:	n/a
23	chr11:59384084-59384134	HCT-116	colon:	n/a
24	chr11:59384084-59384134	HEK293	kidney:	embryo
25	chr11:59384084-59384134	HCPEpiC	choroid plexus:	n/a
26	chr11:59384084-59384134	SKMC	muscle:	n/a
27	chr11:59384084-59384134	HMEC	breast:	n/a
28	chr11:59384084-59384134	H1-hESC	embryonic stem cell:	embryo
29	chr11:59384084-59384134	Caco-2	colon:	n/a
30	chr11:59384084-59384134	K562	blood:	n/a
31	chr11:59384084-59384134	PANC-1	pancreas:	n/a
32	chr11:59384084-59384134	U87	brain:	n/a
33	chr11:59384084-59384134	RPTEC	kidney:	n/a
34	chr11:59384084-59384134	Hepatocyte	liver:	n/a
35	chr11:59384084-59384134	SAEC	small airway:	n/a
36	chr11:59384084-59384134	SK-N-SH_RA	brain:	n/a
37	chr11:59384084-59384134	A549	lung:	n/a
38	chr11:59384084-59384134	HEEpiC	esophagus:	n/a
39	chr11:59384084-59384134	GM12878	blood:	n/a
40	chr11:59384084-59384134	AG10803	skin:	n/a
41	chr11:59384084-59384134	MCF10A-Er-Src	breast:	n/a
42	chr11:59384084-59384134	NHDF-neo	bronchial:	n/a
43	chr11:59384084-59384134	GM06990	blood:	n/a
44	chr11:59384084-59384134	BJ	skin:	n/a
45	chr11:59384084-59384134	HRCEpiC	kidney:	n/a
46	chr11:59384084-59384134	HNPCEpiC	eye:	n/a
47	chr11:59384084-59384134	GM19239	blood:	n/a
48	chr11:59384084-59384134	AoSMC	blood vessel:	n/a
49	chr11:59384084-59384134	HCM	heart:	n/a
50	chr11:59384084-59384134	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
3	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
4	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
5	chr11:59382734..59385576-chr11:59440781..59442919,2	K562	blood:
6	chr11:59324538..59326283-chr11:59383295..59385264,2	K562	blood:
7	chr11:59383955..59385521-chr11:59435044..59437957,2	MCF-7	breast:
8	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
9	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
10	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
OSBP	CpG island
ENSG00000255139	CpG island
ENSG00000255139	Chromatin interaction
ENSG00000252893	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000166900	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	chr11:59381600-59384400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:59381600-59384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:59381800-59384200	Active TSS	Fetal Intestine Small	intestine
10	chr11:59381800-59384400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:59381800-59384400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:59381800-59384400	Active TSS	Left Ventricle	heart
13	chr11:59382000-59384200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:59382000-59384200	Active TSS	Pancreas	Pancrea
15	chr11:59382000-59384400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:59382000-59384400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:59382000-59384400	Active TSS	Esophagus	oesophagus
18	chr11:59382200-59384200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:59382200-59384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:59382200-59384400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:59382200-59384400	Active TSS	Lung	lung
22	chr11:59382200-59384400	Active TSS	Small Intestine	intestine
23	chr11:59382200-59384600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:59382200-59384800	Active TSS	A549	lung
25	chr11:59382400-59384200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:59382400-59384200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:59382400-59384200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:59382400-59384200	Active TSS	Brain Hippocampus Middle	brain
29	chr11:59382400-59384200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:59382400-59384200	Active TSS	Fetal Intestine Large	intestine
31	chr11:59382400-59384200	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr11:59382400-59384200	Active TSS	NHEK	skin
33	chr11:59382400-59384400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:59382400-59384400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:59382400-59384400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:59382400-59384400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr11:59382400-59384400	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:59382400-59384400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:59382400-59384400	Active TSS	Brain Substantia Nigra	brain
40	chr11:59382400-59384400	Active TSS	Colon Smooth Muscle	Colon
41	chr11:59382400-59384400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:59382400-59384400	Active TSS	Fetal Brain Female	brain
43	chr11:59382400-59384400	Active TSS	Fetal Kidney	kidney
44	chr11:59382400-59384400	Active TSS	Fetal Lung	lung
45	chr11:59382400-59384400	Active TSS	Right Ventricle	heart
46	chr11:59382400-59384400	Active TSS	Spleen	Spleen
47	chr11:59382400-59384600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:59382400-59384600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:59382400-59384600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr11:59382400-59384600	Active TSS	Brain Anterior Caudate	brain

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