Variant report

Variant	esv3463546
Chromosome Location	chr3:139003744-139005340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:139002749..139004310-chr3:139044203..139046434,2	K562	blood:
2	chr3:138999898..139002887-chr3:139003436..139005432,3	K562	blood:
3	chr3:139005012..139006687-chr3:139008062..139010094,3	K562	blood:
4	chr3:139005216..139007477-chr3:139015482..139017611,2	K562	blood:
5	chr3:138993561..138997338-chr3:139000852..139004803,5	K562	blood:

Variant related genes	Relation type
ENSG00000175110	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1994763	chr3:139003744-139003745	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145538183	chr3:139003769-139003770	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs62978960	chr3:139003797-139003798	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375596831	chr3:139003811-139003812	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146434403	chr3:139003837-139003838	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139012758	chr3:139003845-139003846	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183133986	chr3:139003917-139003918	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570053978	chr3:139003923-139003924	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546046379	chr3:139003959-139003960	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142939505	chr3:139003960-139003961	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114789447	chr3:139003965-139003966	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566008421	chr3:139003966-139003967	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534808644	chr3:139003999-139004000	Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554789609	chr3:139004000-139004001	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138038748	chr3:139004013-139004014	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537154378	chr3:139004015-139004016	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34253833	chr3:139004020-139004021	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11925658	chr3:139004022-139004023	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543891805	chr3:139004090-139004091	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188069665	chr3:139004209-139004210	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528649509	chr3:139004210-139004211	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555808102	chr3:139004215-139004216	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558804636	chr3:139004218-139004219	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572443100	chr3:139004222-139004223	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114983240	chr3:139004238-139004239	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191822935	chr3:139004250-139004251	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs542168818	chr3:139004254-139004255	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530107786	chr3:139004284-139004285	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543911923	chr3:139004307-139004308	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563805622	chr3:139004309-139004310	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62270785	chr3:139004333-139004334	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552650019	chr3:139004337-139004338	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565970502	chr3:139004376-139004377	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528405815	chr3:139004448-139004449	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376963289	chr3:139004458-139004459	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527570038	chr3:139004488-139004489	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568270626	chr3:139004512-139004513	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113561447	chr3:139004513-139004514	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143961294	chr3:139004551-139004552	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148647678	chr3:139004596-139004597	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570243768	chr3:139004621-139004622	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141193358	chr3:139004624-139004625	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116127435	chr3:139004675-139004676	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572355269	chr3:139004684-139004685	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368267177	chr3:139004685-139004686	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531025632	chr3:139004745-139004746	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372182214	chr3:139004775-139004776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564300006	chr3:139004794-139004795	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541730747	chr3:139004809-139004810	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537925741	chr3:139004848-139004849	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138999000-139006800	Weak transcription	Pancreas	Pancrea
2	chr3:139000800-139004400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:139000800-139011200	Weak transcription	NHLF	lung
4	chr3:139001200-139004600	Weak transcription	Right Ventricle	heart
5	chr3:139001600-139005000	Weak transcription	Left Ventricle	heart
6	chr3:139002000-139011600	Weak transcription	HSMM	muscle
7	chr3:139002400-139006600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:139002600-139004400	Weak transcription	K562	blood
9	chr3:139003000-139004600	Weak transcription	Placenta	Placenta
10	chr3:139003200-139004400	Weak transcription	NHDF-Ad	bronchial
11	chr3:139003200-139007000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:139003400-139004400	Weak transcription	Ovary	ovary
13	chr3:139003400-139004800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:139003600-139009200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:139004000-139004800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:139004400-139004600	Enhancers	Fetal Intestine Small	intestine
17	chr3:139004400-139004800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:139004400-139005400	Genic enhancers	NHDF-Ad	bronchial
19	chr3:139004400-139007200	Enhancers	K562	blood
20	chr3:139004400-139008200	Enhancers	Ovary	ovary
21	chr3:139004600-139005400	Enhancers	Placenta	Placenta
22	chr3:139004600-139008000	Enhancers	Right Ventricle	heart
23	chr3:139004800-139005000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:139004800-139006600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:139005000-139006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:139005000-139008000	Enhancers	Left Ventricle	heart
27	chr3:139005200-139005600	Enhancers	Right Atrium	heart

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