Variant report

Variant	esv2752728
Chromosome Location	chr3:115833212-115902901
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:115844845..115847305-chr3:115848813..115850468,2	K562	blood:
2	chr3:115890950..115893420-chr3:115897517..115899878,2	K562	blood:
3	chr3:115858909..115859556-chr3:116235958..116236759,2	MCF-7	breast:
4	chr3:115890950..115893420-chr3:115897517..115899878,2	K562	blood:
5	chr3:115858744..115859345-chr3:117437910..117438488,2	MCF-7	breast:
6	chr3:115844845..115847305-chr3:115848813..115850468,2	K562	blood:
7	chr3:115892441..115895134-chr9:128466129..128468903,2	MCF-7	breast:
8	chr3:115838925..115841642-chr3:115843217..115845978,2	MCF-7	breast:
9	chr3:115862450..115863088-chr7:54350364..54350864,2	MCF-7	breast:
10	chr3:115838925..115841642-chr3:115843217..115845978,2	MCF-7	breast:
11	chr3:115858694..115859203-chr3:116105156..116105712,2	MCF-7	breast:

No data

Extended variants
information (count: 2582 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2582 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16824437	chr3:115833212-115833213	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558120086	chr3:115833229-115833230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77610113	chr3:115833240-115833241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142422550	chr3:115833242-115833243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555958207	chr3:115833275-115833276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548335080	chr3:115833300-115833301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187982692	chr3:115833306-115833307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541581588	chr3:115833307-115833308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34046466	chr3:115833349-115833350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559897694	chr3:115833359-115833360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546800827	chr3:115833404-115833405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578037359	chr3:115833591-115833592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545441865	chr3:115833694-115833695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564191378	chr3:115833702-115833703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367969866	chr3:115833746-115833747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531666461	chr3:115833827-115833828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114064988	chr3:115833844-115833845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191289087	chr3:115833857-115833858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146471556	chr3:115833894-115833895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183833205	chr3:115833964-115833965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138036691	chr3:115833985-115833986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188498659	chr3:115834000-115834001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149078646	chr3:115834030-115834031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143193822	chr3:115834033-115834034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570234773	chr3:115834063-115834064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569687884	chr3:115834095-115834096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555676431	chr3:115834219-115834220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148269425	chr3:115834228-115834229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535236261	chr3:115834282-115834283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141562921	chr3:115834309-115834310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578155808	chr3:115834322-115834323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146182684	chr3:115834336-115834337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79328490	chr3:115834372-115834373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576254589	chr3:115834404-115834405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543739646	chr3:115834441-115834442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561844237	chr3:115834491-115834492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6782437	chr3:115834516-115834517	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540846652	chr3:115834517-115834518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138183410	chr3:115834569-115834570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112435204	chr3:115834579-115834580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184909474	chr3:115834583-115834584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537865348	chr3:115834642-115834643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569676267	chr3:115834669-115834670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13098623	chr3:115834671-115834672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13098634	chr3:115834674-115834675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377620573	chr3:115834684-115834685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530435034	chr3:115834689-115834690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190152079	chr3:115834720-115834721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145960079	chr3:115834768-115834769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6782711	chr3:115834770-115834771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115824200-115837200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:115827600-115837400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:115830600-115836800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:115830800-115834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:115830800-115834600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:115831600-115834200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:115831800-115834000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:115831800-115837000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:115832000-115833400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:115832800-115833600	Enhancers	Fetal Intestine Small	intestine
11	chr3:115832800-115834400	Enhancers	Fetal Intestine Large	intestine
12	chr3:115832800-115834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:115833200-115833800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:115833600-115833800	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:115833600-115834000	Weak transcription	Fetal Intestine Small	intestine
16	chr3:115834000-115834400	Enhancers	Fetal Intestine Small	intestine
17	chr3:115834000-115835200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:115834200-115834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:115834200-115834800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr3:115834200-115835400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:115834600-115835800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:115834600-115837000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:115834800-115837000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:115834800-115844200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:115835200-115837000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:115835400-115837000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:115835600-115835800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:115835800-115837200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:115835800-115837400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:115836800-115837000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:115836800-115837400	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:115836800-115838400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:115837000-115837200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr3:115837000-115838000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:115837000-115838200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:115837000-115838200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:115837000-115838200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:115837000-115838400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:115837200-115837600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:115837200-115837600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:115837200-115837600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr3:115837200-115838200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:115837400-115837600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:115837400-115838000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:115837600-115847400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:115838000-115838200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:115838000-115843400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:115838200-115843200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:115838200-115843600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:115838200-115843800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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