Variant report

Variant	esv3324477
Chromosome Location	chr3:138832887-138835435
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	chr3:138831386..138833720-chr3:139046881..139049087,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559849134	chr3:138832953-138832954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34073096	chr3:138832966-138832967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71146168	chr3:138832993-138832994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371913886	chr3:138833014-138833015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188430164	chr3:138833052-138833053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191582494	chr3:138833075-138833076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114780274	chr3:138833093-138833094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538555472	chr3:138833125-138833126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184139848	chr3:138833187-138833188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372089652	chr3:138833201-138833202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552016719	chr3:138833214-138833215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376528659	chr3:138833229-138833230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113381264	chr3:138833263-138833264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373835411	chr3:138833273-138833274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71146169	chr3:138833281-138833282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565689112	chr3:138833282-138833283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534299099	chr3:138833285-138833286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554681366	chr3:138833286-138833287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145257623	chr3:138833313-138833314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13069796	chr3:138833314-138833315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188931585	chr3:138833330-138833331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369078558	chr3:138833349-138833350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372711556	chr3:138833357-138833358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375976182	chr3:138833363-138833364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370712861	chr3:138833367-138833368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372120385	chr3:138833376-138833377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376958327	chr3:138833381-138833382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375236843	chr3:138833385-138833386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28376821	chr3:138833388-138833389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28366495	chr3:138833395-138833396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369169341	chr3:138833401-138833402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28742041	chr3:138833402-138833403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111215394	chr3:138833418-138833419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111215417	chr3:138833422-138833423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373397328	chr3:138833436-138833437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377367591	chr3:138833445-138833446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370160684	chr3:138833447-138833448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373335876	chr3:138833452-138833453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377354906	chr3:138833458-138833459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370939781	chr3:138833553-138833554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201471819	chr3:138833617-138833618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376061741	chr3:138833704-138833705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181963302	chr3:138833974-138833975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199908441	chr3:138834128-138834129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187026925	chr3:138834224-138834225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190700421	chr3:138834241-138834242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370375903	chr3:138834293-138834294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376810572	chr3:138834301-138834302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371430365	chr3:138834304-138834305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200202526	chr3:138834371-138834372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138830800-138833000	Enhancers	Brain Hippocampus Middle	brain
3	chr3:138831000-138836000	Weak transcription	HSMM	muscle
4	chr3:138831200-138835400	Weak transcription	NHDF-Ad	bronchial
5	chr3:138831200-138835600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:138831200-138836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:138831200-138836200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:138831200-138837600	Weak transcription	Ovary	ovary
9	chr3:138831200-138838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:138831800-138833000	Enhancers	Brain Angular Gyrus	brain
11	chr3:138831800-138833000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:138831800-138833000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:138831800-138833200	Enhancers	K562	blood
14	chr3:138831800-138834200	Weak transcription	HMEC	breast
15	chr3:138832200-138833000	Enhancers	Brain Anterior Caudate	brain
16	chr3:138832200-138833000	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:138832200-138833200	Enhancers	Brain Substantia Nigra	brain
18	chr3:138833000-138835400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:138833200-138838600	Weak transcription	K562	blood
20	chr3:138834600-138835600	Weak transcription	HMEC	breast
21	chr3:138835400-138835600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr3:138835400-138836600	Enhancers	NHDF-Ad	bronchial
23	chr3:138835400-138837000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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