Variant report

Variant	nsv977072
Chromosome Location	chr15:83467994-83473044
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	chr15:83419016..83420717-chr15:83469585..83471203,2	MCF-7	breast:
2	chr15:83464143..83466084-chr15:83470517..83472909,2	K562	blood:
3	chr15:83417497..83420617-chr15:83465755..83468479,3	K562	blood:
4	chr15:83471021..83472960-chr15:83473027..83474704,2	K562	blood:
5	chr15:83466711..83469123-chr15:83471849..83475129,3	K562	blood:
6	chr15:83471021..83472960-chr15:83473027..83474704,2	K562	blood:
7	chr15:83417408..83420922-chr15:83469506..83474317,6	K562	blood:
8	chr15:83417362..83419441-chr15:83470714..83472568,2	K562	blood:
9	chr15:83418433..83420351-chr15:83468223..83470986,2	MCF-7	breast:
10	chr15:83466081..83469048-chr15:83476973..83479494,2	K562	blood:
11	chr15:83418000..83420485-chr15:83471645..83474179,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156232	chromatin interactions
ENSG00000250988	chromatin interactions
ENSG00000186628	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs557737354	chr15:83468015-83468016	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs577668762	chr15:83468022-83468023	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs116021739	chr15:83468037-83468038	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs561289881	chr15:83468053-83468054	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs114673596	chr15:83468115-83468116	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs151243242	chr15:83468139-83468140	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549979802	chr15:83468140-83468141	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562512796	chr15:83468166-83468167	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs531657624	chr15:83468226-83468227	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs551341513	chr15:83468292-83468293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs564149677	chr15:83468302-83468303	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs140628821	chr15:83468333-83468334	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs34088325	chr15:83468393-83468394	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs190054474	chr15:83468406-83468407	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs566652487	chr15:83468416-83468417	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs535521029	chr15:83468456-83468457	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs549575017	chr15:83468463-83468464	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs369899660	chr15:83468517-83468518	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs145906014	chr15:83468544-83468545	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538539646	chr15:83468632-83468633	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs138458193	chr15:83468649-83468650	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141352597	chr15:83468651-83468652	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs12910606	chr15:83468655-83468656	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs553784913	chr15:83468656-83468657	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs573798336	chr15:83468677-83468678	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs116604460	chr15:83468689-83468690	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs181581736	chr15:83468727-83468728	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs374976491	chr15:83468731-83468732	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs576118258	chr15:83468757-83468758	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs545180601	chr15:83468767-83468768	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs186752659	chr15:83468808-83468809	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs527560842	chr15:83468810-83468811	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs12899020	chr15:83468813-83468814	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs191648008	chr15:83468884-83468885	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529392641	chr15:83468902-83468903	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs549167451	chr15:83468905-83468906	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183479019	chr15:83468946-83468947	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569324887	chr15:83469104-83469105	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368981939	chr15:83469108-83469109	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538100640	chr15:83469122-83469123	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187759333	chr15:83469144-83469145	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572002270	chr15:83469162-83469163	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534462149	chr15:83469175-83469176	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150148787	chr15:83469191-83469192	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372899323	chr15:83469261-83469262	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553827648	chr15:83469273-83469274	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138634730	chr15:83469277-83469278	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567227006	chr15:83469279-83469280	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536358003	chr15:83469287-83469288	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191121630	chr15:83469290-83469291	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83440800-83468000	Weak transcription	Right Ventricle	heart
2	chr15:83450400-83477600	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:83456000-83468200	Weak transcription	Left Ventricle	heart
4	chr15:83466600-83468800	Enhancers	K562	blood
5	chr15:83467400-83470400	Enhancers	Fetal Heart	heart
6	chr15:83467600-83468200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr15:83467800-83468200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr15:83467800-83469000	Enhancers	Psoas Muscle	Psoas
9	chr15:83467800-83469200	Enhancers	Fetal Muscle Leg	muscle
10	chr15:83468000-83468600	Enhancers	Placenta	Placenta
11	chr15:83468000-83468800	Enhancers	Right Ventricle	heart
12	chr15:83468200-83468400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr15:83468200-83469000	Enhancers	Fetal Muscle Trunk	muscle
14	chr15:83468200-83469000	Enhancers	Left Ventricle	heart
15	chr15:83468200-83469000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr15:83468400-83469200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr15:83468600-83469200	Enhancers	Right Atrium	heart
18	chr15:83468800-83469800	Weak transcription	K562	blood
19	chr15:83468800-83470200	Weak transcription	Right Ventricle	heart
20	chr15:83469000-83470000	Weak transcription	Left Ventricle	heart
21	chr15:83469000-83470000	Weak transcription	Psoas Muscle	Psoas
22	chr15:83469000-83470000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr15:83469000-83470600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:83469200-83469800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr15:83469200-83471000	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:83469200-83471000	Weak transcription	Right Atrium	heart
27	chr15:83469200-83477600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:83469400-83477600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:83469800-83471400	Enhancers	K562	blood
30	chr15:83469800-83471800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr15:83469800-83477400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:83470000-83470400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr15:83470000-83471600	Enhancers	Left Ventricle	heart
34	chr15:83470000-83472600	Enhancers	Psoas Muscle	Psoas
35	chr15:83470200-83472600	Enhancers	Right Ventricle	heart
36	chr15:83470400-83470600	Flanking Active TSS	Fetal Heart	heart
37	chr15:83470400-83471400	Enhancers	Primary hematopoietic stem cells	blood
38	chr15:83470400-83471800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
39	chr15:83470400-83472000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr15:83470400-83472000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:83470600-83470800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr15:83470600-83471000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:83470600-83471200	Enhancers	Fetal Heart	heart
44	chr15:83470800-83471000	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr15:83471000-83471400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:83471000-83471400	Enhancers	Right Atrium	heart
47	chr15:83471000-83471600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr15:83471000-83472200	Genic enhancers	Fetal Muscle Leg	muscle
49	chr15:83471000-83472200	Enhancers	GM12878-XiMat	blood
50	chr15:83471000-83477600	Weak transcription	Spleen	Spleen

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