Variant report

Variant	nsv962365
Chromosome Location	chr17:67314651-67315431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr17:67315053-67315263	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:67302738..67306142-chr17:67312679..67315678,3	MCF-7	breast:
2	chr17:67312349..67314720-chr17:67316616..67318624,2	MCF-7	breast:
3	chr17:67314877..67316596-chr17:73774432..73776155,2	MCF-7	breast:
4	chr17:67306645..67309454-chr17:67315201..67317494,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP2K6-7	chr17:67314874-67315102	NONHSAT055578

No data

Variant related genes	Relation type
ABCA5	TF binding region
SNRPGP4	TF binding region
ENSG00000132475	chromatin interactions
ENSG00000154265	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568264787	chr17:67314659-67314660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs180940234	chr17:67314667-67314668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550343760	chr17:67314714-67314715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551800326	chr17:67314716-67314717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371045309	chr17:67314717-67314718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75073970	chr17:67314754-67314755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141438037	chr17:67314761-67314762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534516656	chr17:67314781-67314782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186287545	chr17:67314809-67314810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371251272	chr17:67314820-67314821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566304233	chr17:67314848-67314849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533902994	chr17:67314875-67314876	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs75295694	chr17:67314889-67314890	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs573659731	chr17:67314920-67314921	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs567864845	chr17:67314937-67314938	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs538084425	chr17:67314964-67314965	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs556787646	chr17:67314983-67314984	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs191988187	chr17:67314999-67315000	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs183672109	chr17:67315044-67315045	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs9302899	chr17:67315048-67315049	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs572318162	chr17:67315093-67315094	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs542983329	chr17:67315116-67315117	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs561257292	chr17:67315164-67315165	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186896407	chr17:67315175-67315176	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs191370491	chr17:67315196-67315197	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs182840680	chr17:67315215-67315216	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs78377887	chr17:67315247-67315248	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs147002290	chr17:67315275-67315276	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572203264	chr17:67315290-67315291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148037746	chr17:67315321-67315322	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140395603	chr17:67315360-67315361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187091540	chr17:67315361-67315362	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548948849	chr17:67315375-67315376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141752334	chr17:67315409-67315410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
2	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:67285000-67316200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:67290000-67317400	Weak transcription	Gastric	stomach
5	chr17:67290200-67319600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr17:67291800-67321800	Weak transcription	Esophagus	oesophagus
7	chr17:67293200-67315600	Weak transcription	GM12878-XiMat	blood
8	chr17:67297000-67319400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:67297000-67321800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr17:67304200-67321800	Weak transcription	HUVEC	blood vessel
11	chr17:67305200-67321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:67306000-67321800	Weak transcription	Placenta	Placenta
13	chr17:67306400-67321000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:67306600-67319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:67307000-67321800	Weak transcription	Left Ventricle	heart
16	chr17:67307000-67321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:67307200-67318800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:67307200-67319000	Weak transcription	Fetal Intestine Large	intestine
19	chr17:67307200-67321800	Weak transcription	Thymus	Thymus
20	chr17:67307600-67316000	Weak transcription	NHDF-Ad	bronchial
21	chr17:67308000-67321200	Weak transcription	Fetal Intestine Small	intestine
22	chr17:67310200-67321000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:67310800-67316200	Weak transcription	Osteobl	bone
24	chr17:67311000-67315200	Weak transcription	Liver	Liver
25	chr17:67311000-67315600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:67311000-67315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:67311000-67316400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:67311000-67322000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:67311200-67315800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:67311200-67319000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr17:67311200-67319400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr17:67311200-67320400	Weak transcription	Pancreas	Pancrea
33	chr17:67311200-67320400	Weak transcription	Psoas Muscle	Psoas
34	chr17:67311200-67321800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr17:67311200-67322000	Weak transcription	Brain Anterior Caudate	brain
36	chr17:67311400-67315000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:67311400-67316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr17:67311400-67319200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr17:67313800-67319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:67314000-67320400	Weak transcription	HMEC	breast
41	chr17:67314000-67321600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr17:67314200-67315000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:67314200-67321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:67315000-67315800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr17:67315000-67316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:67315000-67317000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr17:67315200-67315800	Enhancers	Liver	Liver

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