Variant report

Variant	esv3393230
Chromosome Location	chr7:64315092-64318515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:64315466-64315722	K562	blood:	n/a	n/a
2	JUN	chr7:64315474-64315715	K562	blood:	n/a	chr7:64315568-64315576 chr7:64315567-64315577 chr7:64315569-64315580
3	JUND	chr7:64315459-64315676	K562	blood:	n/a	chr7:64315568-64315576 chr7:64315567-64315577 chr7:64315569-64315580
4	MAX	chr7:64318013-64318317	K562	blood:	n/a	chr7:64318158-64318167
5	NR2F2	chr7:64317516-64317990	K562	blood:	n/a	n/a
6	NR2F2	chr7:64317582-64317932	K562	blood:	n/a	n/a
7	PAX5	chr7:64315968-64316238	GM12878	blood:	n/a	n/a
8	STAT5A	chr7:64315306-64315768	K562	blood:	n/a	n/a
9	TAL1	chr7:64315389-64315700	K562	blood:	n/a	n/a
10	TAL1	chr7:64318171-64318222	K562	blood:	n/a	n/a
11	TEAD4	chr7:64315363-64315734	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64315122-64315172	ovcar-3	ovarian:	n/a
2	chr7:64315122-64315172	PFSK-1	brain:	n/a
3	chr7:64315122-64315172	NB4	blood:	n/a
4	chr7:64315122-64315172	GM19239	blood:	n/a
5	chr7:64315122-64315172	HRPEpiC	eye:	n/a
6	chr7:64315122-64315172	LNCaP	prostate:	n/a
7	chr7:64315122-64315172	HMEC	breast:	n/a
8	chr7:64315122-64315172	GM12878	blood:	n/a
9	chr7:64315122-64315172	SKMC	muscle:	n/a
10	chr7:64315122-64315172	AG09309	skin:	n/a
11	chr7:64315122-64315172	ECC-1	luminal epithelium:	n/a
12	chr7:64315122-64315172	Jurkat	blood:	n/a
13	chr7:64315122-64315172	PANC-1	pancreas:	n/a
14	chr7:64315122-64315172	HAEpiC	amniotic membrane:	n/a
15	chr7:64315122-64315172	SK-N-SH_RA	brain:	n/a
16	chr7:64315122-64315172	HCPEpiC	choroid plexus:	n/a
17	chr7:64315122-64315172	MCF10A-Er-Src	breast:	n/a
18	chr7:64315122-64315172	HIPEpiC	eye:	n/a
19	chr7:64315122-64315172	GM12892	blood:	n/a
20	chr7:64315122-64315172	HEEpiC	esophagus:	n/a
21	chr7:64315122-64315172	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:64315122-64315172	CMK	blood:	n/a
23	chr7:64315122-64315172	AG09319	gingival:	n/a
24	chr7:64315122-64315172	HCT-116	colon:	n/a
25	chr7:64315122-64315172	HNPCEpiC	eye:	n/a
26	chr7:64315122-64315172	H1-hESC	embryonic stem cell:	embryo
27	chr7:64315122-64315172	HCM	heart:	n/a
28	chr7:64315122-64315172	HUVEC	blood vessel:	n/a
29	chr7:64315122-64315172	RPTEC	kidney:	n/a
30	chr7:64315122-64315172	GM12891	blood:	n/a
31	chr7:64315122-64315172	MCF-7	breast:	n/a
32	chr7:64315122-64315172	AG04450	lung:	fetal
33	chr7:64315122-64315172	SAEC	small airway:	n/a
34	chr7:64315122-64315172	ProgFib	skin:	n/a
35	chr7:64315122-64315172	BE2_C	brain:	n/a
36	chr7:64315122-64315172	SK-N-SH	brain:	n/a
37	chr7:64315122-64315172	AoSMC	blood vessel:	n/a
38	chr7:64315122-64315172	BJ	skin:	n/a
39	chr7:64315122-64315172	AG10803	skin:	n/a
40	chr7:64315122-64315172	SK-N-MC	brain:	n/a
41	chr7:64315122-64315172	GM06990	blood:	n/a
42	chr7:64315122-64315172	Hela-S3	cervix:	n/a
43	chr7:64315122-64315172	HRE	kidney:	n/a
44	chr7:64315122-64315172	HCF	heart:	n/a
45	chr7:64315122-64315172	Caco-2	colon:	n/a
46	chr7:64315122-64315172	HEK293	kidney:	embryo
47	chr7:64315122-64315172	NHBE	bronchial:	n/a
48	chr7:64315122-64315172	A549	lung:	n/a
49	chr7:64315122-64315172	NT2-D1	testis:	n/a
50	chr7:64315122-64315172	HRCEpiC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:64311946..64314507-chr7:64316906..64318965,2	MCF-7	breast:
2	chr7:64314139..64316583-chr7:64317085..64319810,2	K562	blood:
3	chr7:64314110..64316754-chr7:64405768..64408146,2	K562	blood:
4	chr7:64314139..64316583-chr7:64317085..64319810,2	K562	blood:

No data

Variant related genes	Relation type
SEPHS1P1	TF binding region
ENSG00000213640	TF binding region
SEPHS1P1	CpG island
ENSG00000213640	CpG island
ENSG00000182722	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545084434	chr7:64315107-64315108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527273193	chr7:64315113-64315114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547038418	chr7:64315147-64315148	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs202050450	chr7:64315192-64315193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564201118	chr7:64315241-64315242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564979066	chr7:64315271-64315272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532898287	chr7:64315326-64315327	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372489944	chr7:64315368-64315369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570167314	chr7:64315380-64315381	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs148423974	chr7:64315404-64315405	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs377386788	chr7:64315442-64315443	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114101058	chr7:64315483-64315484	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529230524	chr7:64315525-64315526	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150210705	chr7:64315526-64315527	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs527683599	chr7:64315541-64315542	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541716430	chr7:64315612-64315613	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs78009913	chr7:64315645-64315646	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs138833147	chr7:64315748-64315749	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372000262	chr7:64315749-64315750	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs116457823	chr7:64315787-64315788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575817316	chr7:64315801-64315802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376513628	chr7:64315825-64315826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368488338	chr7:64315826-64315827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372437678	chr7:64315827-64315828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370388715	chr7:64316206-64316207	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs569225219	chr7:64316235-64316236	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs9769988	chr7:64316240-64316241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9769989	chr7:64316241-64316242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9769999	chr7:64316276-64316277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9770000	chr7:64316277-64316278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9770002	chr7:64316314-64316315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9769126	chr7:64316625-64316626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9769155	chr7:64317004-64317005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373647122	chr7:64317502-64317503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377577008	chr7:64317527-64317528	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370706732	chr7:64317529-64317530	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375180200	chr7:64317585-64317586	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368539368	chr7:64317627-64317628	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371471436	chr7:64317677-64317678	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374636449	chr7:64317774-64317775	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs367639752	chr7:64317788-64317789	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371427060	chr7:64317789-64317790	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187162845	chr7:64317827-64317828	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs374878172	chr7:64317828-64317829	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs62458433	chr7:64318008-64318009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541651742	chr7:64318041-64318042	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561646271	chr7:64318044-64318045	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201281484	chr7:64318057-64318058	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs199831188	chr7:64318058-64318059	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572051461	chr7:64318073-64318074	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64310400-64320600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:64314600-64315600	Enhancers	K562	blood

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