Variant report

Variant	esv3445623
Chromosome Location	chr17:63156436-63156975
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63156335..63157199-chr17:63190509..63191412,5	MCF-7	breast:
2	chr17:63120023..63122659-chr17:63155151..63157208,2	MCF-7	breast:
3	chr17:63156678..63157226-chr17:63190609..63191440,3	MCF-7	breast:
4	chr17:63152855..63155592-chr17:63155729..63157725,2	MCF-7	breast:
5	chr17:63154994..63157308-chr17:63182219..63184925,2	MCF-7	breast:
6	chr17:63156468..63157215-chr17:63166885..63167491,2	MCF-7	breast:
7	chr17:63156335..63157305-chr17:63190509..63191511,8	MCF-7	breast:
8	chr17:63084866..63085579-chr17:63156438..63156968,2	MCF-7	breast:
9	chr17:63144698..63147268-chr17:63155004..63157714,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108370	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199644053	chr17:63156441-63156442	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377377842	chr17:63156450-63156451	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs16960740	chr17:63156467-63156468	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76887316	chr17:63156491-63156492	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376051034	chr17:63156513-63156514	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547521393	chr17:63156558-63156559	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200974892	chr17:63156617-63156618	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540174776	chr17:63156624-63156625	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs202019628	chr17:63156626-63156627	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201138699	chr17:63156629-63156630	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200422192	chr17:63156631-63156632	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371524972	chr17:63156637-63156638	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200798153	chr17:63156654-63156655	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201997888	chr17:63156655-63156656	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374141415	chr17:63156658-63156659	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377371789	chr17:63156659-63156660	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116098792	chr17:63156671-63156672	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182107771	chr17:63156673-63156674	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370345963	chr17:63156675-63156676	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557511016	chr17:63156699-63156700	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374076090	chr17:63156704-63156705	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201365778	chr17:63156724-63156725	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146037432	chr17:63156747-63156748	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377423832	chr17:63156763-63156764	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543654318	chr17:63156777-63156778	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138580447	chr17:63156780-63156781	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149332039	chr17:63156785-63156786	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs8074507	chr17:63156847-63156848	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187823126	chr17:63156853-63156854	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527822345	chr17:63156868-63156869	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547829619	chr17:63156870-63156871	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564326641	chr17:63156873-63156874	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533334375	chr17:63156877-63156878	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541098804	chr17:63156879-63156880	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570396377	chr17:63156899-63156900	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368528531	chr17:63156921-63156922	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545539259	chr17:63156923-63156924	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536131594	chr17:63156927-63156928	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144633842	chr17:63156956-63156957	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:63141000-63175200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:63143600-63169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:63145800-63167000	Weak transcription	Aorta	Aorta
5	chr17:63148400-63160000	Weak transcription	Lung	lung
6	chr17:63150200-63162800	Weak transcription	Fetal Stomach	stomach
7	chr17:63150400-63156800	Enhancers	Fetal Thymus	thymus
8	chr17:63151000-63156800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr17:63151400-63160000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:63151600-63156600	Weak transcription	Brain Anterior Caudate	brain
11	chr17:63151600-63156800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:63151800-63160200	Weak transcription	Spleen	Spleen
13	chr17:63152000-63156600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:63152000-63159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr17:63152400-63159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:63153600-63159800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:63153600-63175400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:63154400-63156600	Enhancers	Dnd41	blood
19	chr17:63154600-63156600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:63155200-63156800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr17:63155200-63159600	Weak transcription	K562	blood
22	chr17:63155200-63160000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:63155600-63156600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:63156000-63164400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr17:63156200-63160000	Weak transcription	Thymus	Thymus
26	chr17:63156400-63157200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr17:63156600-63157000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:63156600-63157000	Strong transcription	Brain Anterior Caudate	brain
29	chr17:63156600-63157200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:63156600-63157400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr17:63156600-63159600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:63156600-63165600	Weak transcription	Dnd41	blood
33	chr17:63156800-63157200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr17:63156800-63157400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr17:63156800-63159800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:63156800-63159800	Weak transcription	Fetal Thymus	thymus

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