Variant report

Variant	esv2421767
Chromosome Location	chr3:135697373-135699877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135697805..135699794-chr3:135735661..135738510,2	MCF-7	breast:
2	chr3:135693339..135695483-chr3:135697510..135700287,2	MCF-7	breast:
3	chr3:135684450..135686631-chr3:135698740..135700367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073711	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17196987	chr3:135697373-135697374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13085140	chr3:135697380-135697381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13062647	chr3:135697386-135697387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13062522	chr3:135697404-135697405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13062951	chr3:135697405-135697406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148063276	chr3:135697427-135697428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540063163	chr3:135697443-135697444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559440192	chr3:135697491-135697492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549899247	chr3:135697500-135697501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372952387	chr3:135697512-135697513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570027938	chr3:135697523-135697524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58977481	chr3:135697542-135697543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553633742	chr3:135697558-135697559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571582729	chr3:135697579-135697580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532504313	chr3:135697632-135697633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533735020	chr3:135697669-135697670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16843592	chr3:135697676-135697677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573642461	chr3:135697696-135697697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190652855	chr3:135697728-135697729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375994821	chr3:135697736-135697737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575603056	chr3:135697737-135697738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544618748	chr3:135697789-135697790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565221720	chr3:135697819-135697820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572727022	chr3:135697862-135697863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116741516	chr3:135697866-135697867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373290519	chr3:135697921-135697922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561570189	chr3:135697946-135697947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141943313	chr3:135698012-135698013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550203360	chr3:135698037-135698038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544302040	chr3:135698040-135698041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145795908	chr3:135698050-135698051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148158765	chr3:135698051-135698052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571546939	chr3:135698087-135698088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536186033	chr3:135698101-135698102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7641070	chr3:135698129-135698130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs57594457	chr3:135698153-135698154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376174766	chr3:135698161-135698162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181796505	chr3:135698170-135698171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6772597	chr3:135698177-135698178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs60070757	chr3:135698195-135698196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76548388	chr3:135698215-135698216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58845726	chr3:135698227-135698228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374555345	chr3:135698245-135698246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77490582	chr3:135698265-135698266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541670709	chr3:135698301-135698302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185923303	chr3:135698305-135698306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532744312	chr3:135698328-135698329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138893827	chr3:135698336-135698337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142193376	chr3:135698353-135698354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146329839	chr3:135698374-135698375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135687600-135700400	Weak transcription	Fetal Intestine Small	intestine
2	chr3:135690200-135701200	Weak transcription	NHEK	skin
3	chr3:135690200-135701400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:135690400-135700800	Weak transcription	HSMM	muscle
5	chr3:135691000-135699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:135691200-135699600	Weak transcription	Ovary	ovary
7	chr3:135693000-135700600	Weak transcription	Pancreas	Pancrea
8	chr3:135693000-135701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:135693400-135699800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:135693400-135699800	Weak transcription	NHLF	lung
11	chr3:135693400-135700600	Weak transcription	NH-A	brain
12	chr3:135693400-135701400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:135693600-135701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:135693600-135704000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:135694000-135698400	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:135694000-135699600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:135694000-135700800	Weak transcription	Aorta	Aorta
18	chr3:135694000-135713600	Weak transcription	Fetal Lung	lung
19	chr3:135694000-135726600	Weak transcription	Esophagus	oesophagus
20	chr3:135694200-135698200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:135694200-135698400	Weak transcription	Right Ventricle	heart
22	chr3:135694200-135699000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:135694200-135699600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:135694200-135699600	Weak transcription	Brain Substantia Nigra	brain
25	chr3:135694200-135699600	Weak transcription	Psoas Muscle	Psoas
26	chr3:135694200-135699600	Weak transcription	NHDF-Ad	bronchial
27	chr3:135694200-135701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:135694200-135702000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:135694200-135707400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:135694200-135707400	Weak transcription	Gastric	stomach
31	chr3:135694200-135708800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:135694200-135709600	Weak transcription	Right Atrium	heart
33	chr3:135694200-135713400	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:135694400-135698200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:135698200-135698400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:135698200-135698600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:135698400-135698600	Enhancers	Colon Smooth Muscle	Colon
38	chr3:135698400-135698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:135698400-135699800	Enhancers	Right Ventricle	heart
40	chr3:135698400-135702600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr3:135698600-135699000	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:135698800-135700600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:135699000-135699200	Enhancers	Fetal Intestine Large	intestine
44	chr3:135699000-135703200	Enhancers	Colon Smooth Muscle	Colon
45	chr3:135699000-135704800	Enhancers	Rectal Smooth Muscle	rectum
46	chr3:135699200-135700200	Weak transcription	Fetal Intestine Large	intestine
47	chr3:135699600-135700000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:135699600-135700200	Enhancers	Brain Substantia Nigra	brain
49	chr3:135699600-135700400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr3:135699600-135701000	Enhancers	Ovary	ovary

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