Variant report

Variant	nsv934157
Chromosome Location	chr17:66511434-66511869
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	CHD1	chr17:66511160-66511586	GM12878	blood:	n/a	n/a
2	CHD1	chr17:66507161-66511463	IMR90	lung:	n/a	n/a
3	CHD2	chr17:66511643-66511654	GM12878	blood:	n/a	n/a
4	EBF1	chr17:66510838-66511750	GM12878	blood:	n/a	chr17:66511054-66511067 chr17:66511056-66511065
5	EP300	chr17:66511699-66511744	GM12878	blood:	n/a	n/a
6	MAFF	chr17:66510997-66511546	HepG2	liver:	n/a	n/a
7	MAFK	chr17:66510959-66511537	HepG2	liver:	n/a	chr17:66511100-66511116 chr17:66511101-66511112 chr17:66511099-66511113 chr17:66511392-66511407 chr17:66511100-66511111 chr17:66511100-66511115 chr17:66511100-66511111
8	MAFK	chr17:66511452-66511629	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:66511578-66511654	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:66506962-66511766	IMR90	lung:	n/a	n/a
11	POLR2A	chr17:66510709-66511713	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:66510826-66511711	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:66510825-66511631	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr17:66510961-66511453	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr17:66510848-66511736	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:66511442-66511714	K562	blood:	n/a	n/a
17	WRNIP1	chr17:66511046-66511612	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66509250..66511874-chr17:66538190..66540879,2	MCF-7	breast:
2	chr17:66451996..66456192-chr17:66506725..66511948,5	MCF-7	breast:
3	chr17:66507070..66510931-chr17:66511371..66513422,6	K562	blood:
4	chr17:66509822..66512031-chr17:66520719..66523833,3	K562	blood:

Variant related genes	Relation type
PRKAR1A	TF binding region
ENSG00000108946	chromatin interactions
ENSG00000108950	chromatin interactions
ENSG00000269657	chromatin interactions
ENSG00000070540	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553498372	chr17:66511474-66511475	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs571960368	chr17:66511495-66511496	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs369300461	chr17:66511497-66511498	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs368345008	chr17:66511520-66511521	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs373646911	chr17:66511528-66511529	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs190803359	chr17:66511531-66511532	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs281864779	chr17:66511541-66511542	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs369210646	chr17:66511559-66511560	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs561158629	chr17:66511564-66511565	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs372451862	chr17:66511600-66511601	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs140795787	chr17:66511613-66511614	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs281864780	chr17:66511622-66511623	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs281864787	chr17:66511625-66511626	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs3730349	chr17:66511627-66511628	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184088832	chr17:66511639-66511640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs281864788	chr17:66511641-66511642	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs377513504	chr17:66511643-66511644	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs281864781	chr17:66511649-66511650	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs532516665	chr17:66511660-66511661	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs281864782	chr17:66511664-66511665	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs145590804	chr17:66511672-66511673	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs548529083	chr17:66511679-66511680	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201472242	chr17:66511693-66511694	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs141432364	chr17:66511696-66511697	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs188627341	chr17:66511747-66511748	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs192922477	chr17:66511765-66511766	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs376091323	chr17:66511778-66511779	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs183077945	chr17:66511850-66511851	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
XY gonadal dysgenesis	20685758	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
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66507400-66513600	Active TSS	Right Ventricle	heart
2	chr17:66507600-66511600	Active TSS	Ovary	ovary
3	chr17:66507800-66511800	Active TSS	Stomach Smooth Muscle	stomach
4	chr17:66508000-66511800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:66508800-66511800	Active TSS	Right Atrium	heart
6	chr17:66509400-66511600	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr17:66509600-66513000	Weak transcription	Spleen	Spleen
8	chr17:66509600-66513400	Weak transcription	Gastric	stomach
9	chr17:66509600-66513600	Weak transcription	Esophagus	oesophagus
10	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
11	chr17:66509800-66511600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:66509800-66511800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr17:66509800-66511800	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr17:66509800-66514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:66510000-66511600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr17:66510000-66511600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr17:66510000-66511800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:66510000-66513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:66510200-66511600	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr17:66510200-66511600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr17:66510200-66512800	Weak transcription	Colonic Mucosa	Colon
22	chr17:66510200-66513400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:66510400-66511600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:66510400-66511600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr17:66510400-66511800	Enhancers	Fetal Brain Male	brain
26	chr17:66510400-66511800	Flanking Active TSS	HUVEC	blood vessel
27	chr17:66510600-66511600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:66510600-66511600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr17:66510600-66511600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr17:66510600-66511600	Flanking Active TSS	NH-A	brain
31	chr17:66510800-66511600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr17:66510800-66511600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:66510800-66511600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:66510800-66511600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr17:66510800-66511800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr17:66510800-66511800	Genic enhancers	Hela-S3	cervix
37	chr17:66510800-66511800	Flanking Active TSS	NHLF	lung
38	chr17:66511000-66511600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:66511000-66511600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:66511000-66511600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:66511000-66511600	Genic enhancers	Primary B cells from cord blood	blood
42	chr17:66511000-66511600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr17:66511000-66511600	Enhancers	Stomach Mucosa	stomach
44	chr17:66511000-66511800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:66511000-66511800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:66511000-66511800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:66511000-66511800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr17:66511000-66511800	Enhancers	Lung	lung
49	chr17:66511000-66511800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
50	chr17:66511000-66511800	Flanking Active TSS	HMEC	breast

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