Variant report

Variant	esv3395930
Chromosome Location	chr3:161552299-161584754
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	chr3:161547471..161549402-chr3:161554856..161557293,2	MCF-7	breast:
2	chr3:161545972..161548808-chr3:161568962..161570462,2	MCF-7	breast:

Extended variants
information (count: 770 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555981116	chr3:161555865-161555866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140845715	chr3:161555867-161555868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374526829	chr3:161555869-161555870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149738735	chr3:161555898-161555899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563435250	chr3:161555920-161555921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532090136	chr3:161555928-161555929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192822438	chr3:161555985-161555986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368037136	chr3:161555997-161555998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534930317	chr3:161556032-161556033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73875927	chr3:161556035-161556036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541008583	chr3:161556062-161556063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541983469	chr3:161556064-161556065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73875928	chr3:161556071-161556072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140262899	chr3:161556076-161556077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528852632	chr3:161556077-161556078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370378894	chr3:161556079-161556080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367855778	chr3:161556080-161556081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370941438	chr3:161556081-161556082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375606753	chr3:161556083-161556084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147442095	chr3:161556085-161556086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139794540	chr3:161556086-161556087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537288849	chr3:161556123-161556124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370776636	chr3:161556127-161556128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556863554	chr3:161556129-161556130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374548587	chr3:161556157-161556158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375476164	chr3:161556158-161556159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539521454	chr3:161556160-161556161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184962453	chr3:161556163-161556164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553349640	chr3:161556189-161556190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368401516	chr3:161556198-161556199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1583563	chr3:161556214-161556215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562094192	chr3:161556219-161556220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186242933	chr3:161556257-161556258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189825687	chr3:161556263-161556264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575520746	chr3:161556269-161556270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577637332	chr3:161556309-161556310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188628965	chr3:161556354-161556355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544790054	chr3:161556368-161556369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564498690	chr3:161556389-161556390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573113239	chr3:161566610-161566611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149775168	chr3:161566629-161566630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183903073	chr3:161566653-161566654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144709052	chr3:161566654-161566655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6771433	chr3:161566739-161566740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532615737	chr3:161566747-161566748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111380465	chr3:161566836-161566837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550278346	chr3:161566858-161566859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186907362	chr3:161566883-161566884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192946916	chr3:161566923-161566924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368150695	chr3:161566948-161566949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161555800-161556200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:161555800-161556400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:161566600-161572400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:161568600-161569200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:161569200-161571000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:161570400-161570800	Enhancers	Fetal Intestine Large	intestine
7	chr3:161570400-161572400	Enhancers	Fetal Intestine Small	intestine
8	chr3:161570400-161573800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:161571000-161572000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:161571000-161572200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:161571800-161573200	Enhancers	NH-A	brain
12	chr3:161572000-161572600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:161572000-161572800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:161572000-161572800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:161572000-161573000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:161572000-161573200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:161572200-161572800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:161572200-161572800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:161572200-161572800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:161572200-161572800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:161572200-161572800	Enhancers	Osteobl	bone
22	chr3:161572200-161573400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:161572200-161573400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:161572400-161572600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:161573000-161578000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:161573400-161574400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:161573400-161577400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:161573800-161577600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:161574400-161574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:161576600-161577000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:161577000-161577400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:161577200-161578400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:161577200-161578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:161577400-161578200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:161577400-161578200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:161577400-161578400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:161577400-161578400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:161577400-161578600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:161577400-161578600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:161577600-161578600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:161577800-161578400	Enhancers	Colon Smooth Muscle	Colon
42	chr3:161578000-161578400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr3:161578000-161578600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:161578200-161585800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:161578600-161587600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:161583200-161583600	Enhancers	Dnd41	blood

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