Variant report

Variant	esv3311096
Chromosome Location	chr15:34198460-34202658
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	chr15:34199838..34201738-chr15:34201918..34204540,2	MCF-7	breast:
2	chr15:34199838..34201738-chr15:34201918..34204540,2	MCF-7	breast:

Extended variants
information (count: 160 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs609635	chr15:34198462-34198463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16958306	chr15:34198510-34198511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371974584	chr15:34198529-34198530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12914019	chr15:34198564-34198565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142983847	chr15:34198580-34198581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35469418	chr15:34198656-34198657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563656531	chr15:34198706-34198707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113275177	chr15:34198741-34198742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373875979	chr15:34198744-34198745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180965458	chr15:34198758-34198759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543213144	chr15:34198771-34198772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528638904	chr15:34198792-34198793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557798484	chr15:34198806-34198807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540760704	chr15:34198849-34198850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187069016	chr15:34198866-34198867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs621908	chr15:34198886-34198887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559417658	chr15:34198913-34198914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573391517	chr15:34198928-34198929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551361136	chr15:34198931-34198932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569954859	chr15:34198941-34198942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62014485	chr15:34198953-34198954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544493	chr15:34198963-34198964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568526994	chr15:34199005-34199006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549200955	chr15:34199010-34199011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117744932	chr15:34199022-34199023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs622771	chr15:34199074-34199075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530816587	chr15:34199090-34199091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113369664	chr15:34199093-34199094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150685493	chr15:34199145-34199146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577422270	chr15:34199151-34199152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139963971	chr15:34199156-34199157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34420071	chr15:34199159-34199160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557029401	chr15:34199177-34199178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200796893	chr15:34199240-34199241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192446428	chr15:34199309-34199310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375991927	chr15:34199352-34199353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183403437	chr15:34199359-34199360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186278164	chr15:34199376-34199377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541159658	chr15:34199425-34199426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559505497	chr15:34199441-34199442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533029726	chr15:34199453-34199454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35193931	chr15:34199551-34199552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551399965	chr15:34199592-34199593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563096480	chr15:34199595-34199596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs118045174	chr15:34199597-34199598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149833842	chr15:34199600-34199601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147927366	chr15:34199609-34199610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16958309	chr15:34199619-34199620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568567207	chr15:34199643-34199644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117788848	chr15:34199666-34199667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34160000-34199400	Weak transcription	Left Ventricle	heart
2	chr15:34191000-34202800	Weak transcription	NHLF	lung
3	chr15:34191400-34201000	Weak transcription	Pancreas	Pancrea
4	chr15:34193200-34199200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:34195000-34200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:34195000-34203400	Weak transcription	Aorta	Aorta
7	chr15:34195800-34202800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:34199200-34199800	Enhancers	Fetal Heart	heart
9	chr15:34199200-34200000	Enhancers	HUVEC	blood vessel
10	chr15:34199200-34200200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:34199200-34200800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:34199200-34201400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:34199200-34201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:34199200-34202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr15:34199400-34199600	Enhancers	Left Ventricle	heart
16	chr15:34199400-34199600	Enhancers	Right Atrium	heart
17	chr15:34199400-34199800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:34199400-34199800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:34199400-34199800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:34199400-34199800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:34199400-34199800	Enhancers	Adipose Nuclei	Adipose
22	chr15:34199400-34199800	Enhancers	Brain Cingulate Gyrus	brain
23	chr15:34199400-34199800	Enhancers	Brain Substantia Nigra	brain
24	chr15:34199400-34199800	Enhancers	Fetal Lung	lung
25	chr15:34199400-34199800	Enhancers	Right Ventricle	heart
26	chr15:34199400-34200000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr15:34199400-34200000	Enhancers	Brain Hippocampus Middle	brain
28	chr15:34199400-34200000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr15:34199400-34200000	Enhancers	NHDF-Ad	bronchial
30	chr15:34199400-34200200	Enhancers	NH-A	brain
31	chr15:34199400-34201200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:34199400-34201400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:34199400-34201600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr15:34199400-34201600	Enhancers	Osteobl	bone
35	chr15:34199600-34199800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:34199600-34199800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr15:34199600-34199800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:34199600-34199800	Enhancers	Hela-S3	cervix
39	chr15:34199600-34200000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:34199600-34201200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:34199600-34201600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:34199600-34201600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr15:34199600-34220800	Weak transcription	Right Atrium	heart
44	chr15:34199800-34200000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:34199800-34200600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:34199800-34200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:34199800-34200800	Weak transcription	Hela-S3	cervix
48	chr15:34199800-34201000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:34199800-34202800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:34199800-34203200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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