Variant report

Variant	esv2431356
Chromosome Location	chr17:67344410-67347260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67344633..67346534-chr17:67349656..67352569,2	K562	blood:

Variant related genes	Relation type
ENSG00000252352	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555767898	chr17:67344420-67344421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369452083	chr17:67344425-67344426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566564607	chr17:67344443-67344444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141365980	chr17:67344447-67344448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200063399	chr17:67344493-67344494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368841479	chr17:67344495-67344496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371830267	chr17:67344496-67344497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148421341	chr17:67344497-67344498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71144680	chr17:67344498-67344499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557218	chr17:67344499-67344500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376750824	chr17:67344501-67344502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184119052	chr17:67344507-67344508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573926784	chr17:67344513-67344514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61126596	chr17:67344541-67344542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553092	chr17:67344560-67344561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145095756	chr17:67344725-67344726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113115150	chr17:67344727-67344728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544266306	chr17:67344792-67344793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556182003	chr17:67344820-67344821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577843349	chr17:67344847-67344848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190018285	chr17:67344872-67344873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181304792	chr17:67344880-67344881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572559219	chr17:67344881-67344882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150993199	chr17:67344889-67344890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561291230	chr17:67344894-67344895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116271222	chr17:67344972-67344973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190852791	chr17:67344982-67344983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs117286905	chr17:67345011-67345012	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182613922	chr17:67345056-67345057	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111779428	chr17:67345114-67345115	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113746176	chr17:67345123-67345124	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549136637	chr17:67345199-67345200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566119426	chr17:67345246-67345247	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189019322	chr17:67345306-67345307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138909889	chr17:67345316-67345317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549153664	chr17:67345320-67345321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1642220	chr17:67345358-67345359	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192134273	chr17:67345400-67345401	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111485716	chr17:67345404-67345405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs137964229	chr17:67345405-67345406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs56393230	chr17:67345434-67345435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140603485	chr17:67345439-67345440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182965377	chr17:67345496-67345497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs477031	chr17:67345501-67345502	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs477130	chr17:67345533-67345534	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113261963	chr17:67345549-67345550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571695034	chr17:67345655-67345656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542891836	chr17:67345681-67345682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368539412	chr17:67345699-67345700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559736094	chr17:67345764-67345765	Weak transcription	Chromatin interactive region	1 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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67339400-67355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:67343400-67344800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:67343400-67346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:67344000-67345400	Enhancers	Fetal Intestine Large	intestine
5	chr17:67344800-67345200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr17:67344800-67345200	Enhancers	Hela-S3	cervix
7	chr17:67345000-67345400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:67345200-67346200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:67345400-67349400	Weak transcription	Fetal Intestine Large	intestine
10	chr17:67346200-67347400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr17:67346200-67347400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr17:67346800-67347400	Enhancers	Psoas Muscle	Psoas

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