Variant report

Variant	esv1379595
Chromosome Location	chr7:100424586-100424587
allele	n/a
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	chr7:100422524-100425952	SK-N-SH	brain:	n/a	chr7:100425569-100425590 chr7:100424947-100424956 chr7:100424800-100424813 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100424039-100424052 chr7:100425597-100425615
2	CTCF	chr7:100424560-100424710	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr7:100424580-100424730	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr7:100424580-100424730	SAEC	small airway:	n/a	n/a
5	CTCF	chr7:100423377-100424830	A549	lung:	n/a	chr7:100424800-100424813 chr7:100424039-100424052
6	E2F4	chr7:100424565-100425638	K562	blood:	n/a	chr7:100425038-100425047
7	ELF1	chr7:100424512-100425683	K562	blood:	n/a	chr7:100424806-100424815 chr7:100425013-100425022 chr7:100424962-100424974
8	HA-E2F1	chr7:100424577-100425135	Hela-S3	cervix:	n/a	chr7:100425038-100425047
9	HA-E2F1	chr7:100424189-100425867	MCF-7	breast:	n/a	chr7:100424277-100424286 chr7:100425038-100425047
10	HCFC1	chr7:100424466-100424647	K562	blood:	n/a	n/a
11	HDAC2	chr7:100424150-100425927	MCF-7	breast:	n/a	chr7:100424294-100424308 chr7:100424299-100424313 chr7:100425633-100425647
12	HEY1	chr7:100424576-100425114	K562	blood:	n/a	chr7:100424795-100424810
13	HEY1	chr7:100424469-100425790	K562	blood:	n/a	chr7:100424795-100424810
14	HMGN3	chr7:100424513-100425627	K562	blood:	n/a	n/a
15	JUN	chr7:100422826-100426015	K562	blood:	n/a	n/a
16	MAX	chr7:100422691-100425951	MCF-7	breast:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
17	MAX	chr7:100424469-100425919	A549	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
18	MAX	chr7:100424347-100425964	A549	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
19	MAX	chr7:100422794-100425971	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
20	MAX	chr7:100424426-100425807	HepG2	liver:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
21	MAZ	chr7:100424412-100425597	Hela-S3	cervix:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
22	MAZ	chr7:100424409-100425812	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
23	MAZ	chr7:100422949-100425857	IMR90	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
24	MXI1	chr7:100422162-100426238	IMR90	lung:	n/a	n/a
25	NRF1	chr7:100424302-100425936	SK-N-SH	brain:	n/a	chr7:100425038-100425047
26	POLR2A	chr7:100424446-100425147	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:100424525-100424673	A549	lung:	n/a	n/a
28	POLR2A	chr7:100423682-100427339	K562	blood:	n/a	n/a
29	POLR2A	chr7:100424469-100424789	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:100424490-100425598	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:100424550-100425796	K562	blood:	n/a	n/a
32	POLR2A	chr7:100422030-100424812	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr7:100424427-100425621	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr7:100424401-100425669	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:100424545-100425722	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr7:100424433-100425539	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:100424313-100425927	K562	blood:	n/a	n/a
38	POLR2A	chr7:100423565-100425956	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr7:100424543-100425708	MCF-7	breast:	n/a	n/a
40	POLR2A	chr7:100424458-100425873	HCT-116	colon:	n/a	n/a
41	POLR2A	chr7:100424537-100425078	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:100424466-100425694	A549	lung:	n/a	n/a
43	POLR2A	chr7:100422235-100427552	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr7:100424453-100425730	K562	blood:	n/a	n/a
45	RAD21	chr7:100422224-100424797	SK-N-SH	brain:	n/a	chr7:100423965-100423978
46	SIN3A	chr7:100423620-100425862	H1-hESC	embryonic stem cell:	n/a	chr7:100424058-100424069 chr7:100425437-100425450
47	SIN3AK20	chr7:100424292-100425884	SK-N-SH	brain:	n/a	n/a
48	SIN3AK20	chr7:100424538-100425928	K562	blood:	n/a	n/a
49	SIN3AK20	chr7:100424193-100425907	PANC-1	pancreas:	n/a	n/a
50	SIN3AK20	chr7:100422470-100426001	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
2	chr7:100424369..100426851-chr7:100449777..100451891,3	MCF-7	breast:
3	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
4	chr20:49345925..49349495-chr7:100424000..100426504,3	MCF-7	breast:
5	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
6	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
7	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
8	chr7:100423433..100426983-chr7:100448013..100452140,5	K562	blood:
9	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
10	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:
11	chr7:100422826..100425783-chr7:100447402..100452140,5	K562	blood:
12	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
13	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
14	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:
15	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
16	chr7:100302193..100303928-chr7:100423782..100426431,2	K562	blood:
17	chr7:100424338..100424916-chr9:124132047..124132991,2	NB4	blood:
18	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
19	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
20	chr7:100026299..100028984-chr7:100423719..100425446,2	MCF-7	breast:
21	chr7:100303807..100306073-chr7:100423703..100425515,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A9-1	chr7:100424442-100424669	NONHSAT122409

Variant related genes	Relation type
EPHB4	TF binding region
ENSG00000196411	chromatin interactions
ENSG00000222636	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000087077	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000236305	chromatin interactions
ENSG00000130427	chromatin interactions
ENSG00000106327	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200488259	chr7:100424586-100424587	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
2	rs35907339	chr7:100424587-100424588	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	20409316	CNVD
aortic dissecting aneurysms	22263138	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100421800-100425000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:100422200-100424600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
3	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
4	chr7:100422400-100425600	Active TSS	Lung	lung
5	chr7:100422400-100425800	Active TSS	Left Ventricle	heart
6	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:100422400-100426400	Active TSS	Right Atrium	heart
8	chr7:100422600-100424800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:100422800-100424600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr7:100422800-100424600	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr7:100422800-100426400	Active TSS	Fetal Kidney	kidney
13	chr7:100422800-100427200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:100423000-100424600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:100423000-100424600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100423000-100425400	Active TSS	Small Intestine	intestine
17	chr7:100423000-100425400	Active TSS	HMEC	breast
18	chr7:100423000-100426200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:100423000-100426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:100423200-100424600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr7:100423200-100425400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:100423200-100425800	Active TSS	Brain Anterior Caudate	brain
23	chr7:100423200-100425800	Active TSS	Fetal Lung	lung
24	chr7:100423400-100424600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:100423400-100424600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr7:100423400-100425400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr7:100423400-100425400	Active TSS	Esophagus	oesophagus
28	chr7:100423400-100425400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:100423400-100426000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:100423400-100426400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:100423400-100426800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:100423400-100427000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:100423400-100427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:100423600-100424600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:100423600-100425400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:100423600-100425400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr7:100423600-100425400	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:100423600-100425400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr7:100423600-100425400	Bivalent/Poised TSS	Thymus	Thymus
40	chr7:100423600-100425600	Active TSS	NHEK	skin
41	chr7:100423600-100425800	Bivalent/Poised TSS	HepG2	liver
42	chr7:100423600-100426200	Active TSS	Ovary	ovary
43	chr7:100423600-100426200	Active TSS	HSMM	muscle
44	chr7:100423600-100426200	Active TSS	HUVEC	blood vessel
45	chr7:100423600-100426400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr7:100423600-100426400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:100423600-100426400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:100423600-100426400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:100423600-100426400	Active TSS	NHDF-Ad	bronchial
50	chr7:100423600-100427000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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