Variant report

Variant	esv3385918
Chromosome Location	chr17:67244757-67249155
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	chr17:67244931-67245021	MCF-7	breast:	n/a	n/a
2	CTCF	chr17:67244931-67244992	Fibrobl	skin:	n/a	n/a
3	CTCF	chr17:67247875-67247924	MCF-7	breast:	n/a	n/a
4	GATA3	chr17:67246655-67247378	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr17:67246659-67247260	SK-N-SH	brain:	n/a	n/a
6	MEF2A	chr17:67246815-67247372	SK-N-SH	brain:	n/a	n/a
7	MYC	chr17:67248717-67248793	MCF-7	breast:	n/a	n/a
8	PBX3	chr17:67246695-67247374	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr17:67246888-67247350	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr17:67248679-67248952	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:67244893-67245030	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:67244889-67245015	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:67248727-67248911	MCF-7	breast:	n/a	n/a
14	POLR2A	chr17:67244867-67245016	MCF-7	breast:	n/a	n/a
15	POLR2A	chr17:67244901-67244984	Gliobla	brain:	n/a	n/a
16	STAT3	chr17:67246187-67246218	MCF10A-Er-Src	breast:	n/a	n/a
17	TBL1XR1	chr17:67247160-67247180	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67249068..67251344-chr5:90676320..90677864,2	MCF-7	breast:

Variant related genes	Relation type
ABCA10	TF binding region
ABCA5	TF binding region
ENSG00000113369	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566511897	chr17:67244766-67244767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561621919	chr17:67244777-67244778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529020601	chr17:67244788-67244789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550662671	chr17:67244806-67244807	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185789580	chr17:67244835-67244836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373453792	chr17:67244838-67244839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539690632	chr17:67244857-67244858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369563327	chr17:67244862-67244863	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145232732	chr17:67244919-67244920	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545190123	chr17:67244986-67244987	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555192301	chr17:67245083-67245084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567061162	chr17:67245110-67245111	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374283067	chr17:67245114-67245115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534454484	chr17:67245197-67245198	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555362210	chr17:67245294-67245295	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573663125	chr17:67245413-67245414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537836030	chr17:67245485-67245486	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190131419	chr17:67245487-67245488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533027553	chr17:67245540-67245541	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148721614	chr17:67245546-67245547	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377435910	chr17:67245578-67245579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545722876	chr17:67245603-67245604	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564267027	chr17:67245666-67245667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573057368	chr17:67245690-67245691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140662252	chr17:67245758-67245759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540493871	chr17:67245777-67245778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561683112	chr17:67245785-67245786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112402061	chr17:67245798-67245799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528922962	chr17:67245824-67245825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2067850	chr17:67245884-67245885	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2067851	chr17:67245900-67245901	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs151246972	chr17:67245930-67245931	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1420904	chr17:67245941-67245942	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1420905	chr17:67245944-67245945	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs35778224	chr17:67245973-67245974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373681847	chr17:67246009-67246010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201677603	chr17:67246043-67246044	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141155276	chr17:67246050-67246051	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567599072	chr17:67246059-67246060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372775808	chr17:67246069-67246070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537897485	chr17:67246126-67246127	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182046452	chr17:67246165-67246166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200820765	chr17:67246173-67246174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539077248	chr17:67246247-67246248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113830234	chr17:67246269-67246270	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111537153	chr17:67246292-67246293	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557690447	chr17:67246306-67246307	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546146651	chr17:67246327-67246328	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572959961	chr17:67246364-67246365	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540414609	chr17:67246369-67246370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Basal cell lymphoma	17053054	CNVD
Acute monocytic leukemia	16498392	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
2	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:67224600-67248600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:67230600-67259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:67230800-67253400	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
7	chr17:67231600-67246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:67231800-67247000	Weak transcription	Primary T cells from cord blood	blood
9	chr17:67231800-67247000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr17:67231800-67247000	Weak transcription	HUVEC	blood vessel
11	chr17:67231800-67249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:67231800-67252600	Weak transcription	Fetal Thymus	thymus
13	chr17:67231800-67254400	Weak transcription	Lung	lung
14	chr17:67232600-67249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:67233600-67245000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:67234600-67249200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:67234800-67250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:67236000-67283000	Weak transcription	Ovary	ovary
20	chr17:67236400-67252400	Weak transcription	Fetal Lung	lung
21	chr17:67236400-67278000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:67236600-67248600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:67236600-67251600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:67236800-67249000	Weak transcription	Brain Anterior Caudate	brain
25	chr17:67236800-67280800	Weak transcription	Brain Angular Gyrus	brain
26	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
27	chr17:67237200-67246400	Weak transcription	Aorta	Aorta
28	chr17:67237800-67247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:67238200-67248600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:67238600-67247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:67238800-67278000	Weak transcription	Thymus	Thymus
32	chr17:67239200-67248400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr17:67239200-67262400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:67239400-67252400	Weak transcription	HMEC	breast
35	chr17:67239600-67251000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:67240000-67244800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:67240000-67244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:67240000-67244800	Weak transcription	Fetal Intestine Large	intestine
39	chr17:67240000-67247400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr17:67240000-67248400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
42	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:67240200-67244800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr17:67240200-67245400	Weak transcription	Placenta	Placenta
45	chr17:67240200-67248200	Weak transcription	Fetal Intestine Small	intestine
46	chr17:67240800-67248600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:67242000-67249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:67242000-67260600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:67242000-67265000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr17:67242200-67248400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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