Variant report

Variant	esv1793906
Chromosome Location	chr7:64568080-64629957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:64606224-64606235	HepG2	liver:	n/a	n/a
2	BATF	chr7:64583217-64583436	GM12878	blood:	n/a	chr7:64583312-64583322
3	BATF	chr7:64607889-64608098	GM12878	blood:	n/a	n/a
4	BATF	chr7:64626662-64626865	GM12878	blood:	n/a	chr7:64626758-64626769
5	BCL11A	chr7:64593480-64593764	GM12878	blood:	n/a	n/a
6	CBX3	chr7:64575978-64576471	K562	blood:	n/a	n/a
7	CBX3	chr7:64568683-64569067	K562	blood:	n/a	n/a
8	CBX3	chr7:64610511-64610893	K562	blood:	n/a	n/a
9	CBX3	chr7:64596961-64597693	K562	blood:	n/a	n/a
10	CBX3	chr7:64600836-64601564	K562	blood:	n/a	n/a
11	CBX3	chr7:64575969-64576353	K562	blood:	n/a	n/a
12	CBX3	chr7:64596910-64598009	K562	blood:	n/a	n/a
13	CEBPB	chr7:64605524-64605561	IMR90	lung:	n/a	n/a
14	CEBPB	chr7:64606894-64606926	K562	blood:	n/a	n/a
15	CEBPB	chr7:64606056-64606680	HepG2	liver:	n/a	chr7:64606200-64606211
16	CEBPB	chr7:64604706-64604728	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:64604715-64604798	Hela-S3	cervix:	n/a	chr7:64604747-64604758
18	CEBPB	chr7:64606211-64606264	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr7:64604592-64605626	A549	lung:	n/a	chr7:64605174-64605185 chr7:64604747-64604758
20	CEBPB	chr7:64604492-64605803	K562	blood:	n/a	chr7:64605174-64605185 chr7:64604747-64604758
21	CEBPB	chr7:64606032-64607102	IMR90	lung:	n/a	chr7:64606200-64606211
22	CEBPB	chr7:64605904-64606366	K562	blood:	n/a	chr7:64606200-64606211
23	CEBPB	chr7:64606408-64607212	K562	blood:	n/a	n/a
24	CEBPB	chr7:64590987-64591374	K562	blood:	n/a	chr7:64591197-64591210 chr7:64591161-64591173
25	CEBPB	chr7:64605151-64605345	HepG2	liver:	n/a	chr7:64605174-64605185
26	CEBPB	chr7:64605088-64605299	IMR90	lung:	n/a	chr7:64605174-64605185
27	CEBPB	chr7:64597188-64597656	K562	blood:	n/a	n/a
28	CEBPB	chr7:64604592-64604811	IMR90	lung:	n/a	chr7:64604747-64604758
29	CEBPB	chr7:64605885-64607095	A549	lung:	n/a	chr7:64606200-64606211
30	CEBPB	chr7:64604687-64604747	K562	blood:	n/a	n/a
31	CEBPB	chr7:64606046-64606267	K562	blood:	n/a	chr7:64606200-64606211
32	CEBPD	chr7:64597188-64597607	K562	blood:	n/a	n/a
33	CEBPD	chr7:64610399-64610967	K562	blood:	n/a	n/a
34	CTCF	chr7:64593526-64593700	GM10248	blood:	n/a	n/a
35	CTCF	chr7:64593500-64593650	GM12878	blood:	n/a	n/a
36	CTCF	chr7:64593500-64593650	HMEC	breast:	n/a	n/a
37	CTCF	chr7:64593402-64593845	A549	lung:	n/a	n/a
38	CTCF	chr7:64593578-64593734	Lung_OC	lung:	n/a	n/a
39	CTCF	chr7:64592615-64592665	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr7:64593457-64593659	K562	blood:	n/a	n/a
41	CTCF	chr7:64593559-64593673	HepG2	liver:	n/a	n/a
42	CTCF	chr7:64593480-64593630	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr7:64593493-64593744	LNCaP	prostate:	n/a	n/a
44	CTCF	chr7:64593401-64593854	K562	blood:	n/a	n/a
45	CTCF	chr7:64593603-64593644	MCF-7	breast:	n/a	n/a
46	CTCF	chr7:64593520-64593670	BE2_C	brain:	n/a	n/a
47	CTCF	chr7:64585034-64585255	K562	blood:	n/a	chr7:64585182-64585203 chr7:64585180-64585198
48	CTCF	chr7:64593480-64593630	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr7:64595100-64595250	AG04450	lung:	n/a	n/a
50	CTCF	chr7:64576325-64576348	Kidney_OC	kidney:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64601662-64601712	ECC-1	luminal epithelium:	n/a
2	chr7:64601662-64601712	ECC-1	luminal epithelium:	n/a
3	chr7:64601662-64601712	GM19239	blood:	n/a
4	chr7:64601662-64601712	HEK293	kidney:	embryo
5	chr7:64587587-64587637	AoSMC	blood vessel:	n/a
6	chr7:64587587-64587637	LNCaP	prostate:	n/a
7	chr7:64580908-64580958	HIPEpiC	eye:	n/a
8	chr7:64601662-64601712	HRCEpiC	kidney:	n/a
9	chr7:64602752-64602802	HCM	heart:	n/a
10	chr7:64602752-64602802	HCT-116	colon:	n/a
11	chr7:64580908-64580958	PFSK-1	brain:	n/a
12	chr7:64597604-64597654	H1-hESC	embryonic stem cell:	embryo
13	chr7:64580908-64580958	HUVEC	blood vessel:	n/a
14	chr7:64602752-64602802	AG04449	skin:	fetal
15	chr7:64580908-64580958	LNCaP	prostate:	n/a
16	chr7:64580908-64580958	HRE	kidney:	n/a
17	chr7:64580908-64580958	HNPCEpiC	eye:	n/a
18	chr7:64602752-64602802	AoSMC	blood vessel:	n/a
19	chr7:64587587-64587637	GM06990	blood:	n/a
20	chr7:64602752-64602802	PFSK-1	brain:	n/a
21	chr7:64601662-64601712	NH-A	brain:	n/a
22	chr7:64601662-64601712	AoSMC	blood vessel:	n/a
23	chr7:64580908-64580958	CMK	blood:	n/a
24	chr7:64601662-64601712	SK-N-SH	brain:	n/a
25	chr7:64587587-64587637	NB4	blood:	n/a
26	chr7:64580908-64580958	ProgFib	skin:	n/a
27	chr7:64580908-64580958	HCT-116	colon:	n/a
28	chr7:64587587-64587637	ovcar-3	ovarian:	n/a
29	chr7:64601662-64601712	PFSK-1	brain:	n/a
30	chr7:64602752-64602802	HRCEpiC	kidney:	n/a
31	chr7:64597604-64597654	HRCEpiC	kidney:	n/a
32	chr7:64587587-64587637	Caco-2	colon:	n/a
33	chr7:64601662-64601712	HCF	heart:	n/a
34	chr7:64601662-64601712	SAEC	small airway:	n/a
35	chr7:64587587-64587637	SKMC	muscle:	n/a
36	chr7:64601662-64601712	K562	blood:	n/a
37	chr7:64597604-64597654	IMR90	lung:	fetal
38	chr7:64580908-64580958	A549	lung:	n/a
39	chr7:64601662-64601712	AG04449	skin:	fetal
40	chr7:64587587-64587637	AG09319	gingival:	n/a
41	chr7:64602752-64602802	NH-A	brain:	n/a
42	chr7:64602752-64602802	HRPEpiC	eye:	n/a
43	chr7:64602752-64602802	Jurkat	blood:	n/a
44	chr7:64580908-64580958	HCM	heart:	n/a
45	chr7:64587587-64587637	NT2-D1	testis:	n/a
46	chr7:64602752-64602802	GM19239	blood:	n/a
47	chr7:64601662-64601712	BJ	skin:	n/a
48	chr7:64580908-64580958	GM12892	blood:	n/a
49	chr7:64602752-64602802	MCF10A-Er-Src	breast:	n/a
50	chr7:64587587-64587637	SK-N-MC	brain:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF273-7	chr7:64568773-64569143	NONHSAT121075

No data

Variant related genes	Relation type
INTS4L1	TF binding region
INTS4L1	CpG island

Extended variants
information (count: 417 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547453425	chr7:64568087-64568088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377755480	chr7:64568091-64568092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370269786	chr7:64568097-64568098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373460255	chr7:64568107-64568108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376350690	chr7:64568154-64568155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368382747	chr7:64568159-64568160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372378516	chr7:64568160-64568161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539591951	chr7:64568164-64568165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62454979	chr7:64568206-64568207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201664796	chr7:64568222-64568223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62454981	chr7:64568241-64568242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570227222	chr7:64568257-64568258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199796452	chr7:64568286-64568287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535690212	chr7:64568311-64568312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368558821	chr7:64568331-64568332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376251766	chr7:64568349-64568350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112008876	chr7:64568360-64568361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200737356	chr7:64568373-64568374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201630620	chr7:64568388-64568389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535007529	chr7:64568389-64568390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557776109	chr7:64568390-64568391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371853587	chr7:64568403-64568404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543471081	chr7:64568406-64568407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560221757	chr7:64568454-64568455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576159575	chr7:64568460-64568461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199609698	chr7:64568467-64568468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs68108630	chr7:64568486-64568487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs562003228	chr7:64568551-64568552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527631388	chr7:64568568-64568569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547416700	chr7:64568592-64568593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201915037	chr7:64568597-64568598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199880840	chr7:64568613-64568614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367961835	chr7:64568631-64568632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200687692	chr7:64568633-64568634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112838974	chr7:64568644-64568645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112417745	chr7:64568681-64568682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113203356	chr7:64568687-64568688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200013076	chr7:64568701-64568702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564027260	chr7:64568721-64568722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201951166	chr7:64568743-64568744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532970467	chr7:64568744-64568745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200260831	chr7:64568754-64568755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199978740	chr7:64568775-64568776	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs200937996	chr7:64568782-64568783	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs549871581	chr7:64568784-64568785	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs140614514	chr7:64568821-64568822	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs536029139	chr7:64568833-64568834	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs549351494	chr7:64568845-64568846	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs566358989	chr7:64568849-64568850	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs138210548	chr7:64568854-64568855	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Hodgkin''s lymphoma	17606441	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64542000-64571000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:64542200-64568200	Weak transcription	Adipose Nuclei	Adipose
3	chr7:64542400-64573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:64562000-64568200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:64600000-64600200	Enhancers	Brain Hippocampus Middle	brain
6	chr7:64601000-64601200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:64601000-64601200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
8	chr7:64601000-64601200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
9	chr7:64601000-64601400	Active TSS	Primary B cells from peripheral blood	blood
10	chr7:64601000-64601400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:64601000-64601400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:64601000-64601400	Active TSS	Placenta	Placenta
13	chr7:64601000-64601400	Active TSS	Right Atrium	heart
14	chr7:64601000-64601400	Bivalent/Poised TSS	HMEC	breast
15	chr7:64601000-64601600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:64601000-64601600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:64601000-64601600	Active TSS	Adipose Nuclei	Adipose
18	chr7:64601000-64601600	Active TSS	Ovary	ovary
19	chr7:64601000-64601800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:64601000-64601800	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr7:64601000-64601800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:64601000-64601800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:64601000-64601800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:64601000-64601800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:64601000-64601800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:64601000-64601800	Active TSS	Fetal Brain Female	brain
27	chr7:64601000-64601800	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr7:64601000-64601800	Active TSS	Psoas Muscle	Psoas
29	chr7:64601000-64601800	Active TSS	Right Ventricle	heart
30	chr7:64601000-64601800	Active TSS	HSMM	muscle
31	chr7:64601000-64601800	Active TSS	HSMMtube	muscle
32	chr7:64601000-64602000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:64601000-64602000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:64601000-64602000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:64601000-64602000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:64601000-64602000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:64601000-64602000	Active TSS	Brain Anterior Caudate	brain
38	chr7:64601000-64602000	Active TSS	Brain Germinal Matrix	brain
39	chr7:64601000-64602000	Active TSS	Brain Hippocampus Middle	brain
40	chr7:64601000-64602000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr7:64601000-64602000	Active TSS	K562	blood
42	chr7:64601200-64601400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr7:64601200-64601400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr7:64601200-64601400	Enhancers	Colonic Mucosa	Colon
45	chr7:64601200-64601600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr7:64601200-64601600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:64601200-64601600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr7:64601200-64601600	Active TSS	Osteobl	bone
49	chr7:64601200-64601800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:64601200-64601800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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