Variant report

Variant	nsv482610
Chromosome Location	chr17:63214370-63372334
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:108)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:108 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr17:63215587..63218339-chr17:63218800..63221692,3	MCF-7	breast:
2	chr17:63227758..63228510-chr17:63552269..63552793,3	MCF-7	breast:
3	chr17:63223927..63226638-chr17:63237839..63240467,2	K562	blood:
4	chr17:63330024..63332240-chr17:63337896..63340523,2	MCF-7	breast:
5	chr17:63369666..63371430-chr17:63380858..63383786,2	MCF-7	breast:
6	chr17:63215587..63218339-chr17:63218800..63221692,3	MCF-7	breast:
7	chr17:63290259..63290948-chr17:64161433..64162054,3	K562	blood:
8	chr17:63316336..63318466-chr17:63325602..63328379,2	K562	blood:
9	chr17:63290008..63290664-chr17:63559222..63559801,2	MCF-7	breast:
10	chr17:63307262..63309141-chr17:63320393..63322067,2	K562	blood:
11	chr17:63285511..63287118-chr17:63294136..63295696,2	K562	blood:
12	chr17:63274102..63275070-chr17:63552570..63553437,5	MCF-7	breast:
13	chr17:63315988..63318004-chr17:63321536..63323086,2	MCF-7	breast:
14	chr17:63249969..63252166-chr17:63262920..63265679,2	MCF-7	breast:
15	chr17:63284949..63286460-chr17:63288747..63290967,2	MCF-7	breast:
16	chr17:63359571..63362225-chr17:63378362..63379974,2	MCF-7	breast:
17	chr17:63299896..63301503-chr17:63304895..63307476,2	MCF-7	breast:
18	chr17:63348315..63350528-chr17:63352567..63354812,2	MCF-7	breast:
19	chr17:63334973..63335809-chr2:31437485..31438063,2	MCF-7	breast:
20	chr17:63252016..63254731-chr17:63266965..63269419,2	K562	blood:
21	chr17:63285511..63287118-chr17:63294136..63295696,2	K562	blood:
22	chr17:63252016..63254731-chr17:63266965..63269419,2	K562	blood:
23	chr17:63316027..63318596-chr17:63327880..63330457,2	MCF-7	breast:
24	chr17:63290174..63290693-chr17:63308121..63308712,2	MCF-7	breast:
25	chr17:63355194..63357558-chr17:63369071..63371673,2	MCF-7	breast:
26	chr17:63274496..63275079-chr17:64161642..64162322,2	MCF-7	breast:
27	chr17:63289912..63290924-chr17:63552090..63553613,5	MCF-7	breast:
28	chr17:63322663..63324163-chr17:63332442..63334214,2	MCF-7	breast:
29	chr17:63354880..63357845-chr17:63359182..63361202,2	MCF-7	breast:
30	chr17:63289890..63290930-chr17:63452117..63452880,3	MCF-7	breast:
31	chr17:63359330..63362348-chr17:63368256..63371698,5	MCF-7	breast:
32	chr17:63227608..63228539-chr17:64161360..64162489,5	MCF-7	breast:
33	chr17:63360650..63363703-chr17:63366931..63369518,3	MCF-7	breast:
34	chr17:63274077..63275163-chr17:63983745..63984867,8	MCF-7	breast:
35	chr17:63227496..63228412-chr17:63983844..63984455,4	MCF-7	breast:
36	chr17:63290099..63290904-chr17:63414701..63415333,3	MCF-7	breast:
37	chr17:63354880..63357845-chr17:63359182..63361202,2	MCF-7	breast:
38	chr17:63348315..63350528-chr17:63352567..63354812,2	MCF-7	breast:
39	chr17:63215212..63215930-chr17:64161304..64161874,3	MCF-7	breast:
40	chr17:63227219..63228262-chr17:63552568..63553138,3	MCF-7	breast:
41	chr17:63324691..63326302-chr17:63393772..63396378,2	MCF-7	breast:
42	chr17:63222163..63226262-chr17:63226769..63229619,4	MCF-7	breast:
43	chr17:63330024..63332240-chr17:63337896..63340523,2	MCF-7	breast:
44	chr17:63289735..63290893-chr17:63552046..63553189,8	MCF-7	breast:
45	chr17:63219396..63221791-chr17:63248396..63250246,2	MCF-7	breast:
46	chr17:63274176..63275076-chr17:64161674..64162346,3	MCF-7	breast:
47	chr17:63254495..63257131-chr17:63257745..63260137,2	K562	blood:
48	chr17:63360650..63363703-chr17:63366931..63369518,3	MCF-7	breast:
49	chr17:63262948..63264508-chr17:63270509..63272730,2	MCF-7	breast:
50	chr17:63249969..63252166-chr17:63262920..63265679,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS9-4	chr17:63253443-63253874	expReg_chr17_10753_+

No data

Variant related genes	Relation type
ENSG00000168646	chromatin interactions

Extended variants
information (count: 5756 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:5756 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181144688	chr17:63214379-63214380	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs546363670	chr17:63214397-63214398	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77627015	chr17:63214426-63214427	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528615750	chr17:63214487-63214488	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1122079	chr17:63214503-63214504	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369830712	chr17:63214504-63214505	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187093552	chr17:63214540-63214541	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373039712	chr17:63214548-63214549	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551310258	chr17:63214557-63214558	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567930643	chr17:63214559-63214560	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138808502	chr17:63214606-63214607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376042593	chr17:63214748-63214749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114820605	chr17:63214758-63214759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28669831	chr17:63214763-63214764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538403321	chr17:63214776-63214777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1122078	chr17:63214791-63214792	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575142210	chr17:63214802-63214803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543776402	chr17:63214821-63214822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543773341	chr17:63214902-63214903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144629356	chr17:63214911-63214912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574422712	chr17:63214927-63214928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540123429	chr17:63214955-63214956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370085190	chr17:63214968-63214969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574870078	chr17:63215029-63215030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560133043	chr17:63215058-63215059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148049938	chr17:63215060-63215061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545178341	chr17:63215066-63215067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1514501	chr17:63215078-63215079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34384057	chr17:63215092-63215093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141630968	chr17:63215107-63215108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1514500	chr17:63215131-63215132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567648039	chr17:63215156-63215157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150509107	chr17:63215157-63215158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558725501	chr17:63215159-63215160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566955542	chr17:63215170-63215171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539184016	chr17:63215196-63215197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116930025	chr17:63215197-63215198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139888269	chr17:63215223-63215224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117817583	chr17:63215224-63215225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34754971	chr17:63215261-63215262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78367619	chr17:63215264-63215265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574088100	chr17:63215289-63215290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs36105763	chr17:63215294-63215295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372040493	chr17:63215306-63215307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540137557	chr17:63215328-63215329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553990554	chr17:63215340-63215341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546178099	chr17:63215407-63215408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576977861	chr17:63215409-63215410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545950462	chr17:63215425-63215426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562520544	chr17:63215433-63215434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Basal cell lymphoma	17053054	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
Breast cancer	21364760	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	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
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1149 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63199000-63217200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:63205800-63215000	Weak transcription	Brain Substantia Nigra	brain
4	chr17:63208800-63216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:63209200-63218800	Weak transcription	Brain Anterior Caudate	brain
6	chr17:63213400-63216600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:63213800-63215200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:63214000-63214600	Flanking Active TSS	HSMMtube	muscle
9	chr17:63214200-63214400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr17:63214200-63214600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:63214200-63215800	Enhancers	HSMM	muscle
12	chr17:63214400-63216400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:63214600-63216400	Enhancers	HSMMtube	muscle
14	chr17:63215200-63216400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:63215800-63216000	ZNF genes & repeats	Fetal Kidney	kidney
16	chr17:63215800-63216200	Weak transcription	HSMM	muscle
17	chr17:63216000-63216200	Active TSS	Fetal Kidney	kidney
18	chr17:63216200-63218600	Enhancers	HSMM	muscle
19	chr17:63216400-63216600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr17:63216400-63216600	Flanking Active TSS	HSMMtube	muscle
21	chr17:63216400-63217000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr17:63216400-63217000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:63216400-63217200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:63216400-63217200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr17:63216400-63217200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:63216400-63217400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:63216600-63216800	Enhancers	HSMMtube	muscle
28	chr17:63216600-63217000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr17:63216600-63217000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:63216600-63217200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:63216600-63217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:63216600-63217400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:63216600-63217400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:63216600-63217600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:63216600-63218200	Weak transcription	Brain Substantia Nigra	brain
36	chr17:63216600-63218200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:63216800-63217000	Flanking Active TSS	HSMMtube	muscle
38	chr17:63216800-63217200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:63216800-63217200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:63216800-63217200	Enhancers	NH-A	brain
41	chr17:63216800-63217400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:63217000-63218400	Enhancers	HSMMtube	muscle
43	chr17:63217000-63223400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:63217200-63218200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:63217200-63219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:63217400-63219400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:63217400-63219600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:63217400-63220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:63217800-63218600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:63218000-63218600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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