Variant report

Variant	esv2753414
Chromosome Location	chr3:161826690-161935978
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
2	chr13:34833062..34833562-chr3:161876754..161877328,2	MCF-7	breast:
3	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
4	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
5	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
6	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
7	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
8	chr18:46065653..46068289-chr3:161888180..161889783,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 2679 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2679 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534013587	chr3:161827626-161827627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146671487	chr3:161827727-161827728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552850209	chr3:161827753-161827754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140268006	chr3:161827755-161827756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1397235	chr3:161827760-161827761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs528230273	chr3:161827769-161827770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190314513	chr3:161827797-161827798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562036599	chr3:161827800-161827801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183710085	chr3:161827822-161827823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530954323	chr3:161827824-161827825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539830870	chr3:161827839-161827840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145338500	chr3:161827862-161827863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550101187	chr3:161827865-161827866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115171861	chr3:161827871-161827872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540158425	chr3:161827875-161827876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188732534	chr3:161827877-161827878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556469923	chr3:161827878-161827879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375258188	chr3:161827879-161827880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567064197	chr3:161827883-161827884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535661549	chr3:161827892-161827893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556394153	chr3:161827898-161827899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193282656	chr3:161827939-161827940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554697461	chr3:161827945-161827946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535906433	chr3:161827977-161827978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182517469	chr3:161827978-161827979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186661354	chr3:161828041-161828042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546083678	chr3:161828066-161828067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559347313	chr3:161828076-161828077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370108299	chr3:161828077-161828078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541634995	chr3:161828119-161828120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562195515	chr3:161828146-161828147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531040528	chr3:161828164-161828165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77616916	chr3:161828194-161828195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576351610	chr3:161828238-161828239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564474547	chr3:161828269-161828270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140818956	chr3:161828270-161828271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547312060	chr3:161828277-161828278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567048918	chr3:161828300-161828301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372980694	chr3:161828301-161828302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13080578	chr3:161828370-161828371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs549296220	chr3:161828412-161828413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569075781	chr3:161828422-161828423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370784263	chr3:161828424-161828425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536771943	chr3:161828430-161828431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183994714	chr3:161828455-161828456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150149683	chr3:161828489-161828490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538940824	chr3:161828509-161828510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572532674	chr3:161828533-161828534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16834616	chr3:161828549-161828550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78606684	chr3:161828597-161828598	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161827600-161831400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:161827800-161829400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:161828800-161829000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:161828800-161829400	Enhancers	Brain Germinal Matrix	brain
5	chr3:161829400-161829800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:161829400-161834200	Weak transcription	Brain Germinal Matrix	brain
7	chr3:161829600-161829800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:161829800-161830000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:161830000-161834200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:161831400-161834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:161833600-161834800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:161834000-161836000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:161834200-161834800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:161834200-161834800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:161834200-161834800	Enhancers	Brain Germinal Matrix	brain
16	chr3:161834400-161834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:161834400-161834800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:161834400-161834800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:161834800-161835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:161834800-161835800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:161834800-161835800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:161835400-161836000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:161835600-161836200	Active TSS	A549	lung
24	chr3:161835800-161836000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:161835800-161836000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:161840000-161840800	Enhancers	Adipose Nuclei	Adipose
27	chr3:161840000-161841200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:161840000-161842400	Enhancers	Fetal Intestine Large	intestine
29	chr3:161840200-161841400	Enhancers	Fetal Intestine Small	intestine
30	chr3:161842400-161843400	Weak transcription	Fetal Intestine Large	intestine
31	chr3:161843400-161843600	Enhancers	Fetal Intestine Large	intestine
32	chr3:161843400-161843800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:161843400-161844000	Enhancers	Fetal Heart	heart
34	chr3:161843800-161847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:161844000-161848000	Weak transcription	Fetal Heart	heart
36	chr3:161844600-161844800	Enhancers	Aorta	Aorta
37	chr3:161845000-161847400	Weak transcription	Aorta	Aorta
38	chr3:161847400-161847600	Enhancers	Aorta	Aorta
39	chr3:161847800-161849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:161848000-161848600	Enhancers	Fetal Heart	heart
41	chr3:161848400-161848800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:161848600-161853800	Weak transcription	Fetal Heart	heart
43	chr3:161850200-161850400	Enhancers	Colon Smooth Muscle	Colon
44	chr3:161850400-161856200	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:161851200-161851800	Enhancers	Dnd41	blood
46	chr3:161851200-161859000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:161851600-161851800	Enhancers	Primary T cells from cord blood	blood
48	chr3:161851800-161853000	Flanking Active TSS	Dnd41	blood
49	chr3:161852000-161852200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:161852000-161852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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