Variant report

Variant	esv2370851
Chromosome Location	chr3:196061568-196061996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196043015..196046706-chr3:196061951..196066451,7	K562	blood:
2	chr3:196012576..196016636-chr3:196061383..196069148,11	K562	blood:
3	chr3:196013231..196016156-chr3:196060060..196062117,2	MCF-7	breast:
4	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:

Variant related genes	Relation type
ENSG00000235897	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000213123	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373676721	chr3:196061647-196061648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189883168	chr3:196061665-196061666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9846367	chr3:196061679-196061680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577115689	chr3:196061680-196061681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71161918	chr3:196061689-196061690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71621231	chr3:196061696-196061697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374583716	chr3:196061697-196061698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543943794	chr3:196061698-196061699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562618549	chr3:196061700-196061701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34401339	chr3:196061715-196061716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528227795	chr3:196061718-196061719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532727465	chr3:196061724-196061725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113847222	chr3:196061736-196061737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182092419	chr3:196061750-196061751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371256670	chr3:196061766-196061767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368409812	chr3:196061767-196061768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533318170	chr3:196061788-196061789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529785316	chr3:196061789-196061790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548146113	chr3:196061806-196061807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34364744	chr3:196061834-196061835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs66476561	chr3:196061836-196061837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372353665	chr3:196061837-196061838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187330884	chr3:196061876-196061877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527968539	chr3:196061886-196061887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs66558121	chr3:196061907-196061908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370052146	chr3:196061929-196061930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190199176	chr3:196061947-196061948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552458565	chr3:196061955-196061956	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs9846735	chr3:196061961-196061962	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196047600-196063600	Weak transcription	NHEK	skin
2	chr3:196051400-196063600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:196052000-196062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:196054600-196061800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:196054800-196064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:196057800-196062600	Weak transcription	Hela-S3	cervix
8	chr3:196060200-196062600	Weak transcription	Esophagus	oesophagus
9	chr3:196061200-196062400	Weak transcription	K562	blood
10	chr3:196061800-196063000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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