Variant report

Variant	nsv817697
Chromosome Location	chr15:74336633-74343330
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74330729..74333109-chr15:74334617..74337154,3	K562	blood:
2	chr15:74334928..74336787-chr15:74343703..74345975,2	MCF-7	breast:
3	chr15:74284750..74286727-chr15:74339557..74341307,2	K562	blood:
4	chr15:74282684..74284862-chr15:74339446..74341891,2	K562	blood:
5	chr15:74340758..74341346-chr15:74614631..74615308,2	MCF-7	breast:
6	chr15:74265318..74265924-chr15:74340447..74341070,3	MCF-7	breast:
7	chr15:74264982..74265988-chr15:74340408..74341918,5	K562	blood:
8	chr15:74340833..74341392-chr15:74600254..74600808,2	MCF-7	breast:
9	chr15:74224754..74226933-chr15:74339515..74341343,2	MCF-7	breast:
10	chr15:74328869..74331984-chr15:74335288..74339582,4	MCF-7	breast:
11	chr15:74265052..74265856-chr15:74340481..74341404,2	MCF-7	breast:
12	chr15:74340832..74341338-chr15:74614392..74615111,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000067221	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5742915	chr15:74336633-74336634	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs377318611	chr15:74336638-74336639	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs61751122	chr15:74336656-74336657	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374418426	chr15:74336674-74336675	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs202099881	chr15:74336708-74336709	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs149885467	chr15:74336712-74336713	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs367820386	chr15:74336717-74336718	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs534126343	chr15:74336723-74336724	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs61751123	chr15:74336725-74336726	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs371751769	chr15:74336773-74336774	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs139873595	chr15:74336809-74336810	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs376941681	chr15:74336814-74336815	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs573612912	chr15:74336823-74336824	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs372005113	chr15:74336826-74336827	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs367988522	chr15:74336849-74336850	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs143771788	chr15:74336857-74336858	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs559192849	chr15:74336861-74336862	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs111398700	chr15:74336874-74336875	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs140696630	chr15:74336894-74336895	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs372408417	chr15:74336902-74336903	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs577626364	chr15:74336913-74336914	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs369136208	chr15:74336922-74336923	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs566939707	chr15:74336927-74336928	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs376928603	chr15:74336942-74336943	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs545201747	chr15:74336952-74336953	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs143814349	chr15:74336971-74336972	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs200757566	chr15:74336981-74336982	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs151129618	chr15:74336983-74336984	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs140925157	chr15:74336985-74336986	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs61751124	chr15:74337073-74337074	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs61751125	chr15:74337074-74337075	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs374210403	chr15:74337075-74337076	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs188674537	chr15:74337087-74337088	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs565387284	chr15:74337089-74337090	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs532602796	chr15:74337106-74337107	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs202062354	chr15:74337107-74337108	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs371532283	chr15:74337121-74337122	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs566711622	chr15:74337138-74337139	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs200577511	chr15:74337141-74337142	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs201288185	chr15:74337146-74337147	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs138772531	chr15:74337147-74337148	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs373296015	chr15:74337177-74337178	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs28523403	chr15:74337179-74337180	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs377483116	chr15:74337199-74337200	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs141646523	chr15:74337209-74337210	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112105465	chr15:74337214-74337215	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200030114	chr15:74337218-74337219	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs202247557	chr15:74337232-74337233	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201389557	chr15:74337256-74337257	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145911251	chr15:74337271-74337272	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74313000-74338600	Strong transcription	Primary T cells from cord blood	blood
2	chr15:74314200-74338200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:74314600-74338000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:74316400-74340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74318400-74340200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:74318400-74340400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:74326200-74338200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:74326600-74340200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:74327800-74346000	Weak transcription	Psoas Muscle	Psoas
10	chr15:74328600-74346200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:74328800-74340000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:74329000-74344000	Weak transcription	Small Intestine	intestine
13	chr15:74329200-74339000	Weak transcription	Fetal Thymus	thymus
14	chr15:74329200-74340400	Weak transcription	Liver	Liver
15	chr15:74329200-74340600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:74329200-74343200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:74329400-74340200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:74329600-74337800	Genic enhancers	Stomach Smooth Muscle	stomach
19	chr15:74329800-74340400	Weak transcription	Fetal Brain Male	brain
20	chr15:74329800-74340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:74330000-74340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:74330000-74340600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:74330000-74343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:74330200-74338000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:74330400-74340200	Weak transcription	Dnd41	blood
26	chr15:74330400-74340400	Weak transcription	GM12878-XiMat	blood
27	chr15:74330600-74340200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:74331600-74340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:74331800-74339000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:74332600-74340400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:74333000-74338000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:74333000-74343000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:74333200-74337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:74333200-74340200	Weak transcription	Fetal Lung	lung
35	chr15:74333200-74340400	Weak transcription	NHEK	skin
36	chr15:74333200-74342600	Weak transcription	HMEC	breast
37	chr15:74333400-74338200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:74333400-74340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:74333400-74340400	Weak transcription	Right Atrium	heart
40	chr15:74333400-74341000	Weak transcription	HUVEC	blood vessel
41	chr15:74333600-74336800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:74333600-74339600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:74333800-74337400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:74333800-74338200	Genic enhancers	Spleen	Spleen
45	chr15:74334000-74337800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:74334000-74338200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr15:74334000-74338600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr15:74334000-74342600	Weak transcription	Pancreas	Pancrea
49	chr15:74334000-74346600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:74334200-74337200	Weak transcription	Rectal Smooth Muscle	rectum

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