Variant report

Variant	esv3421859
Chromosome Location	chr15:43249285-43280570
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	chr15:43274336..43276326-chr15:43276849..43278909,2	K562	blood:
2	chr15:43278687..43281856-chr15:43291013..43293652,3	K562	blood:
3	chr15:43246670..43249589-chr15:43250577..43252629,2	K562	blood:
4	chr15:43227976..43230941-chr15:43258410..43260187,2	K562	blood:
5	chr15:43234809..43237372-chr15:43248299..43250757,2	K562	blood:
6	chr15:43234709..43237589-chr15:43247590..43250522,2	MCF-7	breast:
7	chr15:43242538..43245839-chr15:43247604..43251014,3	K562	blood:
8	chr15:43246670..43249589-chr15:43250577..43252629,2	K562	blood:
9	chr15:43274336..43276326-chr15:43276849..43278909,2	K562	blood:
10	chr15:43017657..43020242-chr15:43257370..43259686,2	K562	blood:
11	chr15:43277125..43279751-chr15:43281410..43283345,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140326	chromatin interactions
ENSG00000159459	chromatin interactions

Extended variants
information (count: 1076 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540677866	chr15:43249295-43249296	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528383932	chr15:43249391-43249392	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140396080	chr15:43249420-43249421	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149676775	chr15:43249421-43249422	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552606723	chr15:43249426-43249427	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182101602	chr15:43249491-43249492	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145451757	chr15:43249500-43249501	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557292277	chr15:43249528-43249529	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148489024	chr15:43249532-43249533	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568452688	chr15:43249563-43249564	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534216536	chr15:43249564-43249565	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373574252	chr15:43249590-43249591	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547015255	chr15:43249595-43249596	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570095772	chr15:43249606-43249607	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539173486	chr15:43249609-43249610	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142662491	chr15:43249748-43249749	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559038237	chr15:43249772-43249773	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35245905	chr15:43249773-43249774	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34604979	chr15:43249783-43249784	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576160901	chr15:43249818-43249819	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187593617	chr15:43249838-43249839	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555598026	chr15:43249842-43249843	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551412696	chr15:43249844-43249845	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564455115	chr15:43249870-43249871	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541318153	chr15:43249908-43249909	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560494618	chr15:43249943-43249944	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577142359	chr15:43249944-43249945	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376932891	chr15:43249972-43249973	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545986635	chr15:43249991-43249992	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146488861	chr15:43250006-43250007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191526970	chr15:43250018-43250019	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548807893	chr15:43250047-43250048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561922174	chr15:43250075-43250076	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548367522	chr15:43250150-43250151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528010263	chr15:43250154-43250155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114753153	chr15:43250157-43250158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369635544	chr15:43250183-43250184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373063172	chr15:43250189-43250190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78948790	chr15:43250212-43250213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376155272	chr15:43250231-43250232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140959617	chr15:43250243-43250244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370479144	chr15:43250293-43250294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183746341	chr15:43250364-43250365	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569773480	chr15:43250473-43250474	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111850865	chr15:43250501-43250502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555635005	chr15:43250520-43250521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187063167	chr15:43250667-43250668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534940250	chr15:43250697-43250698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558039497	chr15:43250771-43250772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111320283	chr15:43250780-43250781	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43235400-43252600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:43236000-43268400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:43237800-43254800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:43240400-43252000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:43241200-43251000	Strong transcription	Fetal Lung	lung
7	chr15:43241200-43269800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:43241600-43251800	Strong transcription	Fetal Stomach	stomach
9	chr15:43241600-43258600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr15:43241600-43258800	Strong transcription	Placenta	Placenta
11	chr15:43241600-43259200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr15:43241600-43259800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:43241600-43261800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:43241600-43271000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:43241600-43271800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:43241800-43250000	Strong transcription	Fetal Thymus	thymus
17	chr15:43241800-43251000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:43241800-43254000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:43241800-43254400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:43241800-43257600	Strong transcription	Fetal Brain Female	brain
21	chr15:43241800-43258800	Strong transcription	Adipose Nuclei	Adipose
22	chr15:43241800-43258800	Strong transcription	Fetal Intestine Large	intestine
23	chr15:43241800-43259400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr15:43241800-43270800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr15:43242000-43254800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:43242000-43258800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:43242200-43250600	Strong transcription	Brain Hippocampus Middle	brain
28	chr15:43242200-43253000	Strong transcription	Brain Anterior Caudate	brain
29	chr15:43242200-43253400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr15:43242200-43258600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:43242200-43258800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:43242200-43258800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr15:43242200-43259000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:43242200-43259400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:43242200-43270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:43242400-43259000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:43242800-43262600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:43243200-43256200	Weak transcription	Fetal Heart	heart
39	chr15:43243600-43253000	Strong transcription	Primary B cells from cord blood	blood
40	chr15:43243800-43265000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:43244000-43276400	Weak transcription	Psoas Muscle	Psoas
42	chr15:43244400-43251000	Strong transcription	GM12878-XiMat	blood
43	chr15:43244600-43249800	Weak transcription	Pancreas	Pancrea
44	chr15:43244600-43254600	Weak transcription	Small Intestine	intestine
45	chr15:43244600-43266200	Weak transcription	Gastric	stomach
46	chr15:43244800-43251800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:43245000-43252000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:43245600-43252600	Weak transcription	Fetal Brain Male	brain
49	chr15:43246000-43252000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr15:43246000-43252600	Weak transcription	Right Ventricle	heart

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