Variant report

Variant	esv15396
Chromosome Location	chr7:64295355-64301341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:366)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:64295540-64295565	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:64300466-64300504	K562	blood:	n/a	n/a
3	CBX3	chr7:64299051-64299401	K562	blood:	n/a	n/a
4	CTCF	chr7:64296391-64296545	LNCaP	prostate:	n/a	n/a
5	CTCF	chr7:64296348-64296502	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:64296372-64296493	HepG2	liver:	n/a	n/a
7	CTCF	chr7:64296300-64296450	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr7:64296198-64296278	Medullo	brain:	n/a	n/a
9	CTCF	chr7:64296362-64296529	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:64296460-64296560	GM12878	blood:	n/a	n/a
11	CTCF	chr7:64296320-64296470	NHEK	skin:	n/a	n/a
12	CTCF	chr7:64296381-64296506	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr7:64296300-64296450	HMEC	breast:	n/a	n/a
14	CTCF	chr7:64296708-64296778	GM10266	blood:	n/a	n/a
15	CTCF	chr7:64296816-64296886	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr7:64296320-64296470	HMEC	breast:	n/a	n/a
17	CTCF	chr7:64296300-64296450	HMF	breast:	n/a	n/a
18	CTCF	chr7:64296416-64296453	LNCaP	prostate:	n/a	n/a
19	CTCF	chr7:64296320-64296470	HepG2	liver:	n/a	n/a
20	CTCF	chr7:64296835-64296864	GM10266	blood:	n/a	n/a
21	CTCF	chr7:64296320-64296470	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr7:64298432-64298434	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr7:64298275-64298320	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr7:64298870-64298925	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr7:64296360-64296487	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:64296467-64296473	GM12891	blood:	n/a	n/a
27	CTCF	chr7:64296320-64296470	HEK293	kidney:	n/a	n/a
28	CTCF	chr7:64296460-64296481	GM19240	blood:	n/a	n/a
29	CTCF	chr7:64296377-64296505	Gliobla	brain:	n/a	n/a
30	CTCF	chr7:64296395-64296497	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:64296329-64296469	K562	blood:	n/a	n/a
32	CTCF	chr7:64296359-64296503	K562	blood:	n/a	n/a
33	CTCF	chr7:64296201-64296311	GM10266	blood:	n/a	n/a
34	CTCF	chr7:64295708-64295734	Lung_OC	lung:	n/a	n/a
35	CTCF	chr7:64296340-64296490	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:64296355-64296523	NHEK	skin:	n/a	n/a
37	CTCF	chr7:64296343-64296493	HepG2	liver:	n/a	n/a
38	HCFC1	chr7:64299261-64299298	K562	blood:	n/a	n/a
39	HEY1	chr7:64295999-64300505	K562	blood:	n/a	n/a
40	HEY1	chr7:64296943-64297566	K562	blood:	n/a	n/a
41	HEY1	chr7:64299336-64300444	K562	blood:	n/a	n/a
42	HEY1	chr7:64296103-64296388	K562	blood:	n/a	n/a
43	HEY1	chr7:64298614-64299168	K562	blood:	n/a	n/a
44	HEY1	chr7:64296605-64296941	K562	blood:	n/a	n/a
45	IRF1	chr7:64299254-64299293	K562	blood:	n/a	n/a
46	IRF1	chr7:64299265-64299290	K562	blood:	n/a	n/a
47	MAFF	chr7:64300303-64300663	HepG2	liver:	n/a	chr7:64300468-64300486
48	MAFF	chr7:64295435-64295744	HepG2	liver:	n/a	chr7:64295547-64295565
49	MAFF	chr7:64295465-64295737	K562	blood:	n/a	chr7:64295547-64295565
50	MAFF	chr7:64300304-64300658	K562	blood:	n/a	chr7:64300468-64300486

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64300061-64300111	HL-60	blood:	n/a
2	chr7:64300431-64300481	HCF	heart:	n/a
3	chr7:64295583-64295633	SK-N-SH_RA	brain:	n/a
4	chr7:64300061-64300111	HIPEpiC	eye:	n/a
5	chr7:64298676-64298726	HRPEpiC	eye:	n/a
6	chr7:64299791-64299841	HNPCEpiC	eye:	n/a
7	chr7:64295583-64295633	MCF10A-Er-Src	breast:	n/a
8	chr7:64300431-64300481	ovcar-3	ovarian:	n/a
9	chr7:64295458-64295508	AG09319	gingival:	n/a
10	chr7:64295583-64295633	AoSMC	blood vessel:	n/a
11	chr7:64300061-64300111	HCF	heart:	n/a
12	chr7:64300431-64300481	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:64298676-64298726	Hela-S3	cervix:	n/a
14	chr7:64295458-64295508	GM12892	blood:	n/a
15	chr7:64299791-64299841	GM12892	blood:	n/a
16	chr7:64300431-64300481	CMK	blood:	n/a
17	chr7:64298676-64298726	RPTEC	kidney:	n/a
18	chr7:64300431-64300481	GM12892	blood:	n/a
19	chr7:64299791-64299841	ovcar-3	ovarian:	n/a
20	chr7:64295458-64295508	HNPCEpiC	eye:	n/a
21	chr7:64300061-64300111	HMEC	breast:	n/a
22	chr7:64300061-64300111	BE2_C	brain:	n/a
23	chr7:64300431-64300481	PrEC	prostate:	n/a
24	chr7:64295458-64295508	AG04450	lung:	fetal
25	chr7:64300061-64300111	HUVEC	blood vessel:	n/a
26	chr7:64300061-64300111	HEEpiC	esophagus:	n/a
27	chr7:64295458-64295508	ECC-1	luminal epithelium:	n/a
28	chr7:64300061-64300111	SK-N-SH	brain:	n/a
29	chr7:64295458-64295508	SKMC	muscle:	n/a
30	chr7:64300431-64300481	SAEC	small airway:	n/a
31	chr7:64298676-64298726	HUVEC	blood vessel:	n/a
32	chr7:64298676-64298726	GM12891	blood:	n/a
33	chr7:64299791-64299841	HL-60	blood:	n/a
34	chr7:64298676-64298726	A549	lung:	n/a
35	chr7:64295458-64295508	BJ	skin:	n/a
36	chr7:64300061-64300111	AG04449	skin:	fetal
37	chr7:64295583-64295633	PFSK-1	brain:	n/a
38	chr7:64299791-64299841	HAEpiC	amniotic membrane:	n/a
39	chr7:64295458-64295508	HAEpiC	amniotic membrane:	n/a
40	chr7:64295458-64295508	ovcar-3	ovarian:	n/a
41	chr7:64300061-64300111	PFSK-1	brain:	n/a
42	chr7:64299791-64299841	AoSMC	blood vessel:	n/a
43	chr7:64298676-64298726	T-47D	breast:	n/a
44	chr7:64299791-64299841	GM12878	blood:	n/a
45	chr7:64298676-64298726	AG10803	skin:	n/a
46	chr7:64300061-64300111	HRCEpiC	kidney:	n/a
47	chr7:64300061-64300111	NH-A	brain:	n/a
48	chr7:64295583-64295633	HNPCEpiC	eye:	n/a
49	chr7:64298676-64298726	MCF-7	breast:	n/a
50	chr7:64295458-64295508	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:64297147..64300786-chr7:153106859..153112225,9	K562	blood:
2	chr7:64297147..64300763-chr7:153106859..153112373,8	K562	blood:
3	chr10:71929897..71930420-chr7:64297029..64297549,2	Hela-S3	cervix:
4	chr7:64299266..64299795-chr7:153109659..153110240,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF117-4	chr7:64295658-64297260	NONHSAT121041

No data

Variant related genes	Relation type
ENSG00000234338	TF binding region
ENSG00000234338	CpG island
ENSG00000079332	chromatin interactions
ENSG00000234722	chromatin interactions

Extended variants
information (count: 364 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527613537	chr7:64295356-64295357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187664381	chr7:64295363-64295364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6971507	chr7:64295372-64295373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543636959	chr7:64295376-64295377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35746520	chr7:64295445-64295446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs574382943	chr7:64295448-64295449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191826365	chr7:64295458-64295459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182896685	chr7:64295459-64295460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187280813	chr7:64295465-64295466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6971678	chr7:64295478-64295479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545484709	chr7:64295495-64295496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565219278	chr7:64295501-64295502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191751515	chr7:64295512-64295513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549708647	chr7:64295513-64295514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200130945	chr7:64295517-64295518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6951133	chr7:64295520-64295521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562857111	chr7:64295527-64295528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529114415	chr7:64295528-64295529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141383717	chr7:64295548-64295549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182660157	chr7:64295552-64295553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534329323	chr7:64295555-64295556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551438381	chr7:64295560-64295561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376891166	chr7:64295563-64295564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6976049	chr7:64295579-64295580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs137863754	chr7:64295584-64295585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56004721	chr7:64295587-64295588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs6976060	chr7:64295603-64295604	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6951316	chr7:64295621-64295622	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536899756	chr7:64295647-64295648	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs375161728	chr7:64295650-64295651	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187901412	chr7:64295658-64295659	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs149399162	chr7:64295667-64295668	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565328002	chr7:64295693-64295694	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs375202487	chr7:64295700-64295701	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs61731273	chr7:64295726-64295727	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs192814580	chr7:64295732-64295733	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs377229497	chr7:64295779-64295780	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs113302639	chr7:64295785-64295786	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs184322169	chr7:64295877-64295878	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs6952957	chr7:64295884-64295885	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs189082668	chr7:64295913-64295914	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567580311	chr7:64295938-64295939	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs150801384	chr7:64295941-64295942	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs545510984	chr7:64295950-64295951	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs144806930	chr7:64295978-64295979	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs536464548	chr7:64295986-64295987	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs558447399	chr7:64296011-64296012	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs551085710	chr7:64296059-64296060	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs571260611	chr7:64296060-64296061	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs148585504	chr7:64296063-64296064	ZNF genes & repeats Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64261000-64295400	Weak transcription	Osteobl	bone
2	chr7:64268600-64296000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:64284600-64295800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:64284800-64299800	Weak transcription	Pancreas	Pancrea
6	chr7:64285400-64296400	Weak transcription	Left Ventricle	heart
7	chr7:64291600-64296000	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:64293000-64295600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:64293000-64295600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:64293000-64296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:64293000-64301000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:64293200-64295400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:64293400-64295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:64293600-64295600	Weak transcription	HSMM	muscle
15	chr7:64295600-64295800	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:64296000-64296400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:64299600-64300200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:64299800-64300000	ZNF genes & repeats	Pancreas	Pancrea
19	chr7:64299800-64300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:64300000-64300200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:64300000-64301200	Weak transcription	Pancreas	Pancrea
22	chr7:64300200-64301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:64300200-64310000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:64301000-64302000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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