Variant report

Variant	esv3343441
Chromosome Location	chr7:6460902-6461243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:6461097-6461508	K562	blood:	n/a	n/a
2	POLR2A	chr7:6461226-6462504	HL-60	blood:	n/a	n/a
3	POLR2A	chr7:6461216-6462754	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr7:6461240-6461422	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:6461237-6461550	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:6461232-6461384	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6460966-6461016	PANC-1	pancreas:	n/a
2	chr7:6460966-6461016	MCF10A-Er-Src	breast:	n/a
3	chr7:6460966-6461016	A549	lung:	n/a
4	chr7:6460966-6461016	Jurkat	blood:	n/a
5	chr7:6460966-6461016	GM19239	blood:	n/a
6	chr7:6460966-6461016	GM12892	blood:	n/a
7	chr7:6460966-6461016	GM12878	blood:	n/a
8	chr7:6460966-6461016	AG09309	skin:	n/a
9	chr7:6460966-6461016	AoSMC	blood vessel:	n/a
10	chr7:6460966-6461016	HRCEpiC	kidney:	n/a
11	chr7:6460966-6461016	SK-N-MC	brain:	n/a
12	chr7:6460966-6461016	HRE	kidney:	n/a
13	chr7:6460966-6461016	IMR90	lung:	fetal
14	chr7:6460966-6461016	HRPEpiC	eye:	n/a
15	chr7:6460966-6461016	BJ	skin:	n/a
16	chr7:6460966-6461016	HEK293	kidney:	embryo
17	chr7:6460966-6461016	HepG2	liver:	n/a
18	chr7:6460966-6461016	ECC-1	luminal epithelium:	n/a
19	chr7:6460966-6461016	U87	brain:	n/a
20	chr7:6460966-6461016	GM06990	blood:	n/a
21	chr7:6460966-6461016	SK-N-SH	brain:	n/a
22	chr7:6460966-6461016	NHBE	bronchial:	n/a
23	chr7:6460966-6461016	MCF-7	breast:	n/a
24	chr7:6460966-6461016	HCPEpiC	choroid plexus:	n/a
25	chr7:6460966-6461016	HAEpiC	amniotic membrane:	n/a
26	chr7:6460966-6461016	HMEC	breast:	n/a
27	chr7:6460966-6461016	HCM	heart:	n/a
28	chr7:6460966-6461016	SK-N-SH_RA	brain:	n/a
29	chr7:6460966-6461016	HIPEpiC	eye:	n/a
30	chr7:6460966-6461016	HNPCEpiC	eye:	n/a
31	chr7:6460966-6461016	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:6460966-6461016	HCT-116	colon:	n/a
33	chr7:6460966-6461016	HUVEC	blood vessel:	n/a
34	chr7:6460966-6461016	AG04449	skin:	fetal
35	chr7:6460966-6461016	Hepatocyte	liver:	n/a
36	chr7:6460966-6461016	K562	blood:	n/a
37	chr7:6460966-6461016	T-47D	breast:	n/a
38	chr7:6460966-6461016	HL-60	blood:	n/a
39	chr7:6460966-6461016	NT2-D1	testis:	n/a
40	chr7:6460966-6461016	AG09319	gingival:	n/a
41	chr7:6460966-6461016	CMK	blood:	n/a
42	chr7:6460966-6461016	AG10803	skin:	n/a
43	chr7:6460966-6461016	BE2_C	brain:	n/a
44	chr7:6460966-6461016	SKMC	muscle:	n/a
45	chr7:6460966-6461016	PrEC	prostate:	n/a
46	chr7:6460966-6461016	ProgFib	skin:	n/a
47	chr7:6460966-6461016	GM12891	blood:	n/a
48	chr7:6460966-6461016	HCF	heart:	n/a
49	chr7:6460966-6461016	Hela-S3	cervix:	n/a
50	chr7:6460966-6461016	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:6454958..6457155-chr7:6459947..6462538,2	MCF-7	breast:
2	chr7:6459412..6462059-chr7:6463875..6466225,2	K562	blood:
3	chr7:6459143..6461711-chr7:6462987..6466871,3	K562	blood:

No data

Variant related genes	Relation type
DAGLB	TF binding region
DAGLB	CpG island
ENSG00000164535	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373536880	chr7:6460902-6460903	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192908016	chr7:6460904-6460905	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368231485	chr7:6460917-6460918	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs71808100	chr7:6460939-6460940	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201405283	chr7:6460940-6460941	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199822139	chr7:6460943-6460944	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563907604	chr7:6460945-6460946	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199517914	chr7:6460951-6460952	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558428631	chr7:6460962-6460963	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569964551	chr7:6460966-6460967	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531618055	chr7:6460969-6460970	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548862714	chr7:6460987-6460988	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575542694	chr7:6461002-6461003	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568789034	chr7:6461221-6461222	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577073645	chr7:6461228-6461229	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369008070	chr7:6461230-6461231	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534524138	chr7:6461239-6461240	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs199706083	chr7:6461240-6461241	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
3	chr7:6438000-6462400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:6438800-6462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
10	chr7:6440200-6461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6440200-6464600	Weak transcription	Right Atrium	heart
12	chr7:6441200-6471400	Strong transcription	Brain Germinal Matrix	brain
13	chr7:6443800-6465200	Weak transcription	Fetal Heart	heart
14	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:6444000-6474600	Strong transcription	Lung	lung
16	chr7:6448600-6470000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
18	chr7:6452600-6461400	Weak transcription	K562	blood
19	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:6453000-6463600	Weak transcription	GM12878-XiMat	blood
21	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
22	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
23	chr7:6454600-6463600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:6456600-6464400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:6456800-6461200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:6456800-6461200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:6456800-6464000	Weak transcription	Stomach Mucosa	stomach
29	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:6457000-6464000	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:6457200-6461400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:6457200-6464000	Weak transcription	Primary B cells from cord blood	blood
33	chr7:6457400-6461600	Weak transcription	Brain Substantia Nigra	brain
34	chr7:6457400-6462800	Strong transcription	Placenta	Placenta
35	chr7:6457400-6463400	Weak transcription	HepG2	liver
36	chr7:6457400-6463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:6457400-6464200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:6457600-6461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:6457800-6474800	Strong transcription	Thymus	Thymus
40	chr7:6458800-6461600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:6458800-6461600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:6458800-6462400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:6458800-6462400	Strong transcription	Pancreas	Pancrea
44	chr7:6458800-6467600	Strong transcription	Ovary	ovary
45	chr7:6458800-6469200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:6458800-6474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:6458800-6474800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:6458800-6474800	Strong transcription	Fetal Intestine Large	intestine
49	chr7:6459000-6461200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr7:6459000-6461200	Strong transcription	Monocytes-CD14+_RO01746	blood

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