Variant report

Variant	esv1793848
Chromosome Location	chr15:77662140-77676568
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:
2	chr15:77673612..77675900-chr15:77720669..77722192,2	K562	blood:
3	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
4	chr15:77669352..77671536-chr15:77687037..77689234,2	K562	blood:
5	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
6	chr15:77675482..77678764-chr15:77710197..77713556,3	K562	blood:
7	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
8	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
9	chr15:77661189..77663862-chr15:77711525..77713281,2	MCF-7	breast:
10	chr15:77676422..77679960-chr15:77680439..77684994,6	K562	blood:
11	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
12	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
13	chr15:77662346..77663859-chr15:77693628..77695822,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140382	chromatin interactions
ENSG00000173517	chromatin interactions

Extended variants
information (count: 463 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371550274	chr15:77662142-77662143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536430849	chr15:77662147-77662148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79821598	chr15:77662331-77662332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569181296	chr15:77662360-77662361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576395165	chr15:77662364-77662365	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577166557	chr15:77662479-77662480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536955671	chr15:77662487-77662488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs117183019	chr15:77662546-77662547	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576784064	chr15:77662581-77662582	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144964030	chr15:77662593-77662594	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138851298	chr15:77662625-77662626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs574218388	chr15:77662643-77662644	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542807112	chr15:77662645-77662646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549425633	chr15:77662691-77662692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs112390781	chr15:77662758-77662759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188168525	chr15:77663091-77663092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565250771	chr15:77663134-77663135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192896929	chr15:77663143-77663144	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373288006	chr15:77663148-77663149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551484348	chr15:77663149-77663150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566175380	chr15:77663184-77663185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536784763	chr15:77663230-77663231	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548364569	chr15:77663231-77663232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149366825	chr15:77663245-77663246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569868680	chr15:77663257-77663258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143766698	chr15:77663308-77663309	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571331806	chr15:77663371-77663372	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs76759435	chr15:77663372-77663373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs184491002	chr15:77663384-77663385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547742044	chr15:77663476-77663477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577101216	chr15:77663477-77663478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189369193	chr15:77663597-77663598	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552593449	chr15:77663714-77663715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574157880	chr15:77663719-77663720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541531470	chr15:77663776-77663777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs148133406	chr15:77663804-77663805	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12910707	chr15:77663821-77663822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576578611	chr15:77663836-77663837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149687684	chr15:77663851-77663852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs71145817	chr15:77663876-77663877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202025217	chr15:77663879-77663880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544029570	chr15:77663881-77663882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374778778	chr15:77663895-77663896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111416121	chr15:77663967-77663968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541428346	chr15:77664040-77664041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567440678	chr15:77664066-77664067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559795162	chr15:77664123-77664124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530169986	chr15:77664147-77664148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114418947	chr15:77664169-77664170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193124635	chr15:77664176-77664177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77637200-77666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:77639600-77664400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
4	chr15:77640400-77662200	Weak transcription	HepG2	liver
5	chr15:77642600-77664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:77642600-77664800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:77645800-77662800	Weak transcription	Brain Angular Gyrus	brain
8	chr15:77645800-77664200	Weak transcription	Brain Anterior Caudate	brain
9	chr15:77645800-77665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:77645800-77665800	Weak transcription	Pancreas	Pancrea
11	chr15:77645800-77674000	Weak transcription	Ovary	ovary
12	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
13	chr15:77646800-77666000	Weak transcription	Stomach Mucosa	stomach
14	chr15:77647000-77687200	Weak transcription	A549	lung
15	chr15:77648600-77685800	Weak transcription	Gastric	stomach
16	chr15:77651600-77664000	Weak transcription	Fetal Heart	heart
17	chr15:77651600-77674000	Weak transcription	Psoas Muscle	Psoas
18	chr15:77654400-77664400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr15:77655200-77664400	Weak transcription	Fetal Brain Male	brain
20	chr15:77656000-77666000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:77656000-77674000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:77656200-77676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:77656400-77664200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:77656400-77665200	Weak transcription	Left Ventricle	heart
25	chr15:77656400-77683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:77656600-77664600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:77656600-77665600	Weak transcription	Fetal Stomach	stomach
28	chr15:77660400-77671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:77661200-77664800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:77661400-77662200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr15:77661400-77663000	Enhancers	Osteobl	bone
32	chr15:77661600-77663200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:77661800-77662200	Enhancers	NHDF-Ad	bronchial
34	chr15:77661800-77663000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:77662000-77667400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:77662200-77662600	Enhancers	HepG2	liver
37	chr15:77662200-77677000	Weak transcription	NHDF-Ad	bronchial
38	chr15:77663000-77680200	Weak transcription	Osteobl	bone
39	chr15:77664000-77664600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:77664000-77665000	Enhancers	Fetal Heart	heart
41	chr15:77664000-77665200	Enhancers	Brain Germinal Matrix	brain
42	chr15:77664200-77664800	Enhancers	GM12878-XiMat	blood
43	chr15:77664200-77665000	Enhancers	Brain Anterior Caudate	brain
44	chr15:77664200-77665200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:77664400-77664600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:77664400-77664600	Enhancers	Fetal Brain Male	brain
47	chr15:77664400-77664800	Enhancers	Fetal Brain Female	brain
48	chr15:77664400-77665000	Enhancers	Brain Cingulate Gyrus	brain
49	chr15:77664400-77665000	Enhancers	Brain Hippocampus Middle	brain
50	chr15:77664400-77665000	Enhancers	Brain Inferior Temporal Lobe	brain

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