Variant report

Variant	esv2760380
Chromosome Location	chr15:56510123-56529955
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56516120..56519450-chr15:56528763..56530830,3	K562	blood:
2	chr15:56285437..56287119-chr15:56522668..56524567,2	MCF-7	breast:
3	chr15:56514134..56517478-chr15:56536032..56539404,3	K562	blood:
4	chr15:56529793..56531409-chr15:56531688..56534062,2	MCF-7	breast:
5	chr15:56516120..56519450-chr15:56528763..56530830,3	K562	blood:
6	chr15:56512622..56516382-chr15:56518362..56521999,4	K562	blood:
7	chr15:56521792..56524721-chr15:56527729..56529667,2	MCF-7	breast:
8	chr15:56517945..56522475-chr15:56532942..56536961,5	K562	blood:
9	chr15:56511715..56515864-chr15:56532488..56536636,4	MCF-7	breast:
10	chr15:56522241..56525811-chr15:56534847..56539735,6	MCF-7	breast:
11	chr15:56503289..56505951-chr15:56511015..56513534,2	K562	blood:
12	chr15:56521792..56524721-chr15:56527729..56529667,2	MCF-7	breast:
13	chr15:56500425..56503148-chr15:56514379..56516558,2	K562	blood:
14	chr15:56523183..56527072-chr15:56528127..56530635,4	K562	blood:
15	chr15:56523183..56527072-chr15:56528127..56530635,4	K562	blood:
16	chr15:56512622..56516382-chr15:56518362..56521999,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFX7-1	chr15:56514392-56516403	ucscGeneNc_uc002afb_1

No data

Variant related genes	Relation type
ENSG00000181827	chromatin interactions
ENSG00000069869	chromatin interactions
ENSG00000151575	chromatin interactions

Extended variants
information (count: 823 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534801602	chr15:56510162-56510163	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555093282	chr15:56510174-56510175	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374644514	chr15:56510201-56510202	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541647545	chr15:56510202-56510203	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150454892	chr15:56510225-56510226	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561698724	chr15:56510245-56510246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs557148435	chr15:56510286-56510287	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12591093	chr15:56510287-56510288	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546115095	chr15:56510298-56510299	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184864119	chr15:56510324-56510325	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78066238	chr15:56510342-56510343	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12900114	chr15:56510343-56510344	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138502826	chr15:56510414-56510415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs144076149	chr15:56510415-56510416	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75642326	chr15:56510417-56510418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112197966	chr15:56510427-56510428	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78768773	chr15:56510439-56510440	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113709125	chr15:56510445-56510446	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533251488	chr15:56510446-56510447	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs377607237	chr15:56510481-56510482	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79793777	chr15:56510525-56510526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141230819	chr15:56510577-56510578	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs374896597	chr15:56510591-56510592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562756180	chr15:56510600-56510601	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190540153	chr15:56510666-56510667	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548302814	chr15:56510730-56510731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192967774	chr15:56510774-56510775	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549560591	chr15:56510780-56510781	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116212890	chr15:56510790-56510791	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs72738682	chr15:56510796-56510797	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577056443	chr15:56510844-56510845	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539734281	chr15:56510845-56510846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185133867	chr15:56510850-56510851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533442268	chr15:56510862-56510863	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573459424	chr15:56510868-56510869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189679334	chr15:56510875-56510876	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541765866	chr15:56510892-56510893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181105958	chr15:56510893-56510894	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72738683	chr15:56510989-56510990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139342329	chr15:56510995-56510996	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72738684	chr15:56511122-56511123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539078166	chr15:56511126-56511127	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546481489	chr15:56511142-56511143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144138084	chr15:56511147-56511148	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185356844	chr15:56511165-56511166	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146509646	chr15:56511212-56511213	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188451247	chr15:56511232-56511233	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139626651	chr15:56511251-56511252	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550701053	chr15:56511255-56511256	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373948732	chr15:56511262-56511263	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56453600-56515000	Weak transcription	NHLF	lung
2	chr15:56459200-56511000	Weak transcription	Esophagus	oesophagus
3	chr15:56466000-56514200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:56467000-56511600	Weak transcription	Fetal Intestine Small	intestine
5	chr15:56480200-56515400	Weak transcription	Hela-S3	cervix
6	chr15:56485600-56521200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:56493200-56515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:56496600-56515200	Weak transcription	Left Ventricle	heart
9	chr15:56498400-56514400	Weak transcription	NHEK	skin
10	chr15:56498400-56515200	Weak transcription	HUVEC	blood vessel
11	chr15:56500600-56513000	Weak transcription	HMEC	breast
12	chr15:56500600-56515200	Weak transcription	Ovary	ovary
13	chr15:56500800-56514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:56500800-56515200	Weak transcription	Thymus	Thymus
15	chr15:56501600-56511800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:56502400-56514600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:56504200-56515200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:56504600-56511800	Weak transcription	Fetal Kidney	kidney
19	chr15:56504800-56510800	Weak transcription	HSMM	muscle
20	chr15:56504800-56511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:56504800-56511800	Weak transcription	K562	blood
22	chr15:56504800-56515200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:56505000-56515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:56505600-56513600	Weak transcription	Brain Anterior Caudate	brain
25	chr15:56505600-56514400	Weak transcription	HepG2	liver
26	chr15:56505800-56511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:56505800-56514800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:56506000-56514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:56506200-56510600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:56506400-56510600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:56506400-56511600	Weak transcription	Fetal Lung	lung
32	chr15:56506400-56514400	Weak transcription	Dnd41	blood
33	chr15:56507200-56510200	Enhancers	NH-A	brain
34	chr15:56508000-56534400	Weak transcription	Fetal Heart	heart
35	chr15:56508200-56511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:56508200-56512800	Weak transcription	Primary T cells from cord blood	blood
37	chr15:56508200-56515400	Weak transcription	Fetal Thymus	thymus
38	chr15:56508200-56524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:56508400-56510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:56508400-56513000	Weak transcription	A549	lung
41	chr15:56508400-56514400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:56508400-56515200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:56508400-56523000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:56508800-56510800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:56508800-56511800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:56508800-56514200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:56508800-56514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:56508800-56515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:56508800-56515200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:56509000-56514400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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