Variant report

Variant	esv1806015
Chromosome Location	chr3:156095513-156114898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156096464..156098715-chr3:156098972..156101153,2	MCF-7	breast:
2	chr3:156106149..156107857-chr3:156114527..156116715,2	K562	blood:
3	chr3:155891766..155892703-chr3:156100012..156100931,3	MCF-7	breast:
4	chr3:156105641..156107748-chr3:156165114..156167904,2	MCF-7	breast:
5	chr3:155853531..155854523-chr3:156102494..156103055,2	K562	blood:
6	chr3:156111175..156113615-chr3:156134394..156136811,2	MCF-7	breast:
7	chr3:156106149..156107857-chr3:156114527..156116715,2	K562	blood:
8	chr3:155872011..155872725-chr3:156100054..156100965,2	K562	blood:
9	chr3:156100350..156100873-chr3:156227181..156227754,2	MCF-7	breast:
10	chr3:155891642..155892738-chr3:156099937..156100944,4	MCF-7	breast:
11	chr3:156096464..156098715-chr3:156098972..156101153,2	MCF-7	breast:
12	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
13	chr3:156075207..156077071-chr3:156101345..156103192,2	K562	blood:
14	chr3:155869321..155870239-chr3:156099929..156100470,4	K562	blood:
15	chr3:155867932..155869023-chr3:156099965..156100884,3	K562	blood:
16	chr3:155869256..155870827-chr3:156099723..156101077,13	MCF-7	breast:
17	chr3:156089108..156092383-chr3:156093518..156096511,3	K562	blood:
18	chr3:155761771..155762741-chr3:156099934..156100659,2	MCF-7	breast:
19	chr3:156100005..156100933-chr3:156167530..156168472,4	MCF-7	breast:
20	chr3:156099958..156100895-chr3:156227185..156228168,2	K562	blood:
21	chr3:156085716..156088226-chr3:156095271..156097532,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242017	chromatin interactions

Extended variants
information (count: 664 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9868210	chr3:156095513-156095514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112482220	chr3:156095559-156095560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548758754	chr3:156095583-156095584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567171023	chr3:156095650-156095651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558080414	chr3:156095651-156095652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57058377	chr3:156095666-156095667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374619824	chr3:156095673-156095674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181737080	chr3:156095702-156095703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148371063	chr3:156095717-156095718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571191029	chr3:156095724-156095725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58484806	chr3:156095754-156095755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553832230	chr3:156095772-156095773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs816544	chr3:156095784-156095785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79388118	chr3:156095838-156095839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370742206	chr3:156095864-156095865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186342141	chr3:156095894-156095895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140462020	chr3:156095937-156095938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543864755	chr3:156095956-156095957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114149324	chr3:156095966-156095967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577295044	chr3:156095974-156095975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77827103	chr3:156096009-156096010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150399556	chr3:156096045-156096046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs207463926	chr3:156096133-156096134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77183430	chr3:156096135-156096136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548869970	chr3:156096177-156096178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116104108	chr3:156096206-156096207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531424344	chr3:156096217-156096218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549822268	chr3:156096224-156096225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74453208	chr3:156096230-156096231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538762936	chr3:156096273-156096274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34004980	chr3:156096292-156096293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547412549	chr3:156096340-156096341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574796284	chr3:156096349-156096350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565681364	chr3:156096388-156096389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3772252	chr3:156096391-156096392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138367068	chr3:156096397-156096398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78967052	chr3:156096398-156096399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537225400	chr3:156096428-156096429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142854219	chr3:156096436-156096437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577257956	chr3:156096448-156096449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146082179	chr3:156096482-156096483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559275822	chr3:156096507-156096508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555239973	chr3:156096508-156096509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191348063	chr3:156096510-156096511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76202521	chr3:156096528-156096529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138051806	chr3:156096602-156096603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9874012	chr3:156096606-156096607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549696401	chr3:156096618-156096619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73017930	chr3:156096626-156096627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532062175	chr3:156096634-156096635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	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
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156088600-156096000	Weak transcription	Placenta	Placenta
2	chr3:156090800-156100600	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:156092400-156101600	Weak transcription	Aorta	Aorta
4	chr3:156094200-156105000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:156094600-156096000	Enhancers	Fetal Heart	heart
6	chr3:156094800-156097600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:156096000-156096200	Enhancers	Placenta	Placenta
8	chr3:156097400-156098000	Enhancers	Gastric	stomach
9	chr3:156097600-156097800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr3:156097800-156098200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:156098200-156098400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:156098400-156101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:156099200-156099400	Bivalent Enhancer	Fetal Heart	heart
14	chr3:156100400-156100600	Enhancers	Left Ventricle	heart
15	chr3:156100400-156101200	Enhancers	Right Atrium	heart
16	chr3:156100400-156102200	Enhancers	Fetal Brain Female	brain
17	chr3:156100400-156103200	Enhancers	Fetal Brain Male	brain
18	chr3:156100600-156101000	Weak transcription	Left Ventricle	heart
19	chr3:156100600-156101000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:156100600-156101800	Enhancers	Colon Smooth Muscle	Colon
21	chr3:156100600-156101800	Enhancers	Fetal Muscle Leg	muscle
22	chr3:156100600-156101800	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:156100600-156102000	Enhancers	Fetal Heart	heart
24	chr3:156100600-156102000	Enhancers	Fetal Stomach	stomach
25	chr3:156100600-156102000	Enhancers	Stomach Smooth Muscle	stomach
26	chr3:156100800-156101200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:156101000-156101400	Enhancers	HSMMtube	muscle
28	chr3:156101200-156101400	Enhancers	NHDF-Ad	bronchial
29	chr3:156101200-156101600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr3:156101200-156101600	Weak transcription	Right Atrium	heart
31	chr3:156101400-156104000	Weak transcription	HSMMtube	muscle
32	chr3:156101600-156101800	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:156101600-156101800	Enhancers	Left Ventricle	heart
34	chr3:156101600-156101800	Enhancers	Right Atrium	heart
35	chr3:156101600-156103000	Enhancers	Aorta	Aorta
36	chr3:156101600-156106000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:156101800-156103000	Weak transcription	Right Atrium	heart
38	chr3:156101800-156104000	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:156102000-156106600	Weak transcription	Fetal Stomach	stomach
40	chr3:156102400-156102600	Enhancers	Brain Cingulate Gyrus	brain
41	chr3:156103000-156103200	Enhancers	Right Atrium	heart
42	chr3:156103000-156104000	Weak transcription	Aorta	Aorta
43	chr3:156103200-156106800	Weak transcription	Fetal Brain Male	brain
44	chr3:156103800-156104400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:156104000-156104200	Enhancers	Aorta	Aorta
46	chr3:156104000-156108200	Enhancers	Fetal Muscle Leg	muscle
47	chr3:156104000-156108200	Enhancers	HSMMtube	muscle
48	chr3:156104200-156104600	Weak transcription	Aorta	Aorta
49	chr3:156104400-156105800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:156104600-156104800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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