Variant report

Variant	esv1845488
Chromosome Location	chr17:44816132-44849634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:75)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

No data

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:44840704..44842981-chr17:44847991..44849653,2	MCF-7	breast:
2	chr17:44825152..44828455-chr17:44829776..44834617,4	MCF-7	breast:
3	chr17:44811116..44812890-chr17:44818858..44821196,2	MCF-7	breast:
4	chr17:44848353..44849074-chr6:26158086..26158790,2	Hela-S3	cervix:
5	chr17:44845310..44847853-chr17:44872083..44874051,2	K562	blood:
6	chr17:44806392..44808378-chr17:44817039..44819825,2	K562	blood:
7	chr17:44834549..44837328-chr17:44842622..44845050,2	K562	blood:
8	chr17:44843310..44845974-chr17:44848991..44851957,3	MCF-7	breast:
9	chr17:44830114..44832534-chr17:44845890..44849410,4	K562	blood:
10	chr17:44848117..44849092-chr4:25235386..25236084,2	Hela-S3	cervix:
11	chr17:44832715..44835385-chr17:44845501..44848268,3	K562	blood:
12	chr17:44848371..44851556-chr17:44854343..44857073,3	MCF-7	breast:
13	chr17:44845867..44850393-chr17:44893846..44898781,9	K562	blood:
14	chr17:44848565..44850557-chr17:44896605..44898581,4	K562	blood:
15	chr17:44821369..44826185-chr17:44846753..44849990,6	K562	blood:
16	chr17:44846353..44850075-chr17:44870910..44874671,5	K562	blood:
17	chr17:44837102..44839238-chr17:44845941..44848841,2	K562	blood:
18	chr17:44837102..44839238-chr17:44845941..44848841,2	K562	blood:
19	chr17:44848624..44851339-chr17:44893104..44896024,3	K562	blood:
20	chr11:61559555..61560161-chr17:44848660..44849342,2	Hela-S3	cervix:
21	chr17:44816270..44819088-chr17:44845691..44848257,2	MCF-7	breast:
22	chr17:44823632..44825811-chr17:44831938..44833806,2	K562	blood:
23	chr17:44847986..44850923-chr17:44874927..44876461,2	K562	blood:
24	chr17:44830114..44832534-chr17:44845890..44849410,4	K562	blood:
25	chr17:44832715..44835385-chr17:44845501..44848268,3	K562	blood:
26	chr17:44840766..44847017-chr17:44847800..44851001,9	MCF-7	breast:
27	chr17:44799962..44803131-chr17:44820339..44824064,3	K562	blood:
28	chr17:44839344..44841120-chr17:44841937..44843876,2	K562	blood:
29	chr17:44833407..44835634-chr17:44872755..44874510,2	K562	blood:
30	chr17:44846909..44848699-chr17:44886329..44888882,2	K562	blood:
31	chr17:44840766..44847017-chr17:44847800..44851001,9	MCF-7	breast:
32	chr17:44833273..44837088-chr17:44837902..44840947,3	K562	blood:
33	chr17:44848363..44849947-chr17:45003750..45005877,2	K562	blood:
34	chr17:44834549..44837328-chr17:44842622..44845050,2	K562	blood:
35	chr17:44842407..44844540-chr17:44901586..44903730,2	K562	blood:
36	chr17:44825152..44828455-chr17:44829776..44834617,4	MCF-7	breast:
37	chr17:44848344..44850894-chr17:44852175..44854837,4	MCF-7	breast:
38	chr17:44842963..44844961-chr17:44998826..45000868,2	K562	blood:
39	chr17:44847670..44850061-chr17:44912249..44914668,3	K562	blood:
40	chr17:44841770..44845110-chr17:44871532..44873744,3	K562	blood:
41	chr17:44821369..44826185-chr17:44846753..44849990,6	K562	blood:
42	chr17:44819607..44821857-chr17:44848285..44851793,3	MCF-7	breast:
43	chr17:44830876..44832546-chr17:44838405..44840740,2	K562	blood:
44	chr17:44818564..44820440-chr17:44888540..44890190,2	K562	blood:
45	chr17:44267872..44270663-chr17:44839838..44842513,2	K562	blood:
46	chr17:44820992..44822869-chr17:44847358..44849527,2	K562	blood:
47	chr17:44804689..44809871-chr17:44845472..44850072,6	K562	blood:
48	chr17:44848117..44849210-chr5:40835373..40836312,3	Hela-S3	cervix:
49	chr17:44813669..44815710-chr17:44826122..44828858,2	K562	blood:
50	chr17:44848118..44848659-chr5:65439946..65440535,2	Hela-S3	cervix:

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NSF	hsa-miR-103a-3p	chr17:44833388-44833410
2	NSF	hsa-miR-26b-5p	chr17:44834807-44834828
3	NSF	hsa-miR-16-5p	chr17:44834358-44834378
4	NSF	hsa-miR-192-5p	chr17:44834306-44834328
5	NSF	hsa-miR-26b-5p	chr17:44834076-44834097
6	NSF	hsa-miR-193b-3p	chr17:44834631-44834653
7	NSF	hsa-miR-215-5p	chr17:44834306-44834328

Variant related genes	Relation type
ENSG00000073969	chromatin interactions
ENSG00000261886	chromatin interactions
ENSG00000038210	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000120071	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000108433	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000262633	chromatin interactions
ENSG00000108379	chromatin interactions

Extended variants
information (count: 1100 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12325819	chr17:44816132-44816133	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191536699	chr17:44816193-44816194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534485280	chr17:44816256-44816257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56251277	chr17:44816300-44816301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554858844	chr17:44816315-44816316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568219949	chr17:44816329-44816330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537491155	chr17:44816330-44816331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557385776	chr17:44816344-44816345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577450406	chr17:44816365-44816366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546300774	chr17:44816432-44816433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553166639	chr17:44816477-44816478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182281835	chr17:44816495-44816496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573391575	chr17:44816500-44816501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542008003	chr17:44816522-44816523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184019243	chr17:44816567-44816568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564387199	chr17:44816652-44816653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531100018	chr17:44816693-44816694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543048162	chr17:44816694-44816695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562921209	chr17:44816797-44816798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531953028	chr17:44816816-44816817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551869847	chr17:44816869-44816870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565599099	chr17:44816923-44816924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544957227	chr17:44816947-44816948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12942938	chr17:44817087-44817088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71138548	chr17:44817094-44817095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537743703	chr17:44817096-44817097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200703694	chr17:44817099-44817100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77937302	chr17:44817109-44817110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77767588	chr17:44817111-44817112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546830840	chr17:44817126-44817127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548082005	chr17:44817128-44817129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562376012	chr17:44817166-44817167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186469922	chr17:44817209-44817210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191464254	chr17:44817312-44817313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72628336	chr17:44817355-44817356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539800994	chr17:44817403-44817404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199445	chr17:44817408-44817409	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs75612989	chr17:44817426-44817427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74898058	chr17:44817428-44817429	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77622703	chr17:44817429-44817430	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185626282	chr17:44817704-44817705	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143590260	chr17:44817762-44817763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185522098	chr17:44817828-44817829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542447545	chr17:44817835-44817836	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190777848	chr17:44817881-44817882	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113782831	chr17:44817894-44817895	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145968049	chr17:44817896-44817897	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536609266	chr17:44817944-44817945	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138415917	chr17:44817963-44817964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200873143	chr17:44818028-44818029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	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
Breast cancer	21858162	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
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	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
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1453 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44780800-44835200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:44786600-44827800	Weak transcription	Brain Hippocampus Middle	brain
3	chr17:44788800-44820000	Weak transcription	Small Intestine	intestine
4	chr17:44789200-44833200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:44791400-44828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:44792000-44826400	Weak transcription	Placenta	Placenta
7	chr17:44792600-44829200	Weak transcription	Brain Germinal Matrix	brain
8	chr17:44792800-44828800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:44793600-44842200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:44795600-44820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:44795600-44820000	Weak transcription	Esophagus	oesophagus
12	chr17:44795600-44828600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:44798000-44828800	Weak transcription	Brain Anterior Caudate	brain
14	chr17:44798400-44820000	Weak transcription	Fetal Lung	lung
15	chr17:44798600-44832400	Weak transcription	Psoas Muscle	Psoas
16	chr17:44798600-44833200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:44798600-44833200	Weak transcription	Gastric	stomach
18	chr17:44798600-44841800	Weak transcription	Right Ventricle	heart
19	chr17:44798800-44827000	Weak transcription	Colonic Mucosa	Colon
20	chr17:44798800-44828800	Weak transcription	Brain Angular Gyrus	brain
21	chr17:44800000-44828800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:44800200-44828600	Weak transcription	Ovary	ovary
23	chr17:44800400-44819200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:44800600-44828800	Weak transcription	Fetal Kidney	kidney
25	chr17:44802400-44828800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:44803600-44825800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:44805600-44816800	Weak transcription	Fetal Intestine Small	intestine
28	chr17:44805600-44827400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:44805800-44828000	Weak transcription	HepG2	liver
30	chr17:44806000-44818400	Weak transcription	Fetal Intestine Large	intestine
31	chr17:44808600-44819600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:44808600-44826600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr17:44808600-44827800	Weak transcription	Liver	Liver
34	chr17:44808800-44819800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:44808800-44826600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:44809400-44819000	Weak transcription	Fetal Heart	heart
37	chr17:44810400-44827200	Weak transcription	Fetal Thymus	thymus
38	chr17:44810600-44820400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:44810800-44816800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr17:44810800-44819800	Weak transcription	Adipose Nuclei	Adipose
41	chr17:44810800-44828000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:44811000-44819600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr17:44811000-44819800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr17:44811000-44819800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:44811000-44819800	Weak transcription	HSMMtube	muscle
46	chr17:44811000-44820000	Weak transcription	Lung	lung
47	chr17:44811000-44820200	Weak transcription	Pancreas	Pancrea
48	chr17:44811000-44829200	Weak transcription	Aorta	Aorta
49	chr17:44811000-44829200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr17:44811200-44818400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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