Variant report

Variant	esv275172
Chromosome Location	chr15:53841671-53849690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:53839734..53842688-chr15:53844777..53846540,2	K562	blood:
2	chr15:53839749..53842575-chr15:53848742..53851441,2	MCF-7	breast:
3	chr15:53839488..53841156-chr15:53845536..53848480,2	MCF-7	breast:
4	chr15:53839734..53842688-chr15:53844777..53846540,2	K562	blood:
5	chr15:53847180..53849439-chr15:53853767..53855337,2	MCF-7	breast:
6	chr15:53839749..53842575-chr15:53848742..53851441,2	MCF-7	breast:

Extended variants
information (count: 318 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551548957	chr15:53841688-53841689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575543015	chr15:53841713-53841714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565167808	chr15:53841789-53841790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572433682	chr15:53841832-53841833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143518560	chr15:53841836-53841837	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146749292	chr15:53841842-53841843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530158572	chr15:53841845-53841846	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549818970	chr15:53841873-53841874	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148889306	chr15:53841887-53841888	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1906422	chr15:53841929-53841930	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193056837	chr15:53842022-53842023	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566217259	chr15:53842056-53842057	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143546233	chr15:53842078-53842079	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547090604	chr15:53842120-53842121	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557908381	chr15:53842168-53842169	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139211943	chr15:53842188-53842189	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572937823	chr15:53842351-53842352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368993504	chr15:53842352-53842353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115248630	chr15:53842375-53842376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185232657	chr15:53842412-53842413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78010622	chr15:53842501-53842502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558927598	chr15:53842522-53842523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536144709	chr15:53842533-53842534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561677134	chr15:53842536-53842537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148010484	chr15:53842574-53842575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541292448	chr15:53842580-53842581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140752047	chr15:53842590-53842591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574737068	chr15:53842714-53842715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369088197	chr15:53842720-53842721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543554557	chr15:53842751-53842752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528877345	chr15:53842755-53842756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541465124	chr15:53842769-53842770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563440989	chr15:53842781-53842782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532593681	chr15:53842783-53842784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552335032	chr15:53842789-53842790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559861393	chr15:53842821-53842822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77579188	chr15:53842844-53842845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74824280	chr15:53842853-53842854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567158478	chr15:53842866-53842867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536244489	chr15:53842912-53842913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549949236	chr15:53842956-53842957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542551823	chr15:53842986-53842987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569753523	chr15:53843070-53843071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150094182	chr15:53843072-53843073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558494969	chr15:53843125-53843126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138621656	chr15:53843150-53843151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56021461	chr15:53843153-53843154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554840710	chr15:53843157-53843158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574789591	chr15:53843168-53843169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142691140	chr15:53843199-53843200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53840200-53842400	Enhancers	HepG2	liver
2	chr15:53840400-53842400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr15:53840800-53842000	Weak transcription	Liver	Liver
4	chr15:53840800-53842600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr15:53841000-53842400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr15:53841000-53842600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr15:53841000-53842600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr15:53841200-53842000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr15:53841200-53842200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr15:53841400-53842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:53841600-53841800	Enhancers	Duodenum Mucosa	Duodenum
12	chr15:53841800-53842200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr15:53841800-53842600	Enhancers	Fetal Intestine Small	intestine
14	chr15:53841800-53843200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:53841800-53843800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:53842000-53842200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:53842000-53842400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr15:53842000-53842400	Enhancers	Liver	Liver
19	chr15:53842200-53844400	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:53842400-53842600	Enhancers	Fetal Intestine Large	intestine
21	chr15:53842400-53851000	Weak transcription	Liver	Liver
22	chr15:53842600-53847200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:53842600-53847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:53842600-53851000	Weak transcription	Fetal Intestine Small	intestine
25	chr15:53843200-53843400	Enhancers	Fetal Intestine Large	intestine
26	chr15:53843200-53843600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr15:53843400-53844200	Enhancers	Small Intestine	intestine
28	chr15:53843600-53852200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:53844200-53852200	Weak transcription	Small Intestine	intestine
30	chr15:53844600-53845800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:53845000-53845800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:53845400-53845600	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:53845400-53845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:53845600-53846600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:53845800-53847000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:53846600-53847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:53847000-53847200	Enhancers	Primary hematopoietic stem cells	blood
38	chr15:53847000-53847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:53847200-53848000	Active TSS	Primary hematopoietic stem cells	blood
40	chr15:53847200-53848000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:53847200-53848800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr15:53847200-53848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:53847400-53848600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr15:53847800-53851800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:53848000-53848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:53848000-53851000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:53848200-53848800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr15:53848600-53849000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr15:53848600-53850800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:53848800-53850600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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