Variant report

Variant	nsv904369
Chromosome Location	chr15:74716761-74719531
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74711706..74714244-chr15:74719320..74721195,2	K562	blood:
2	chr15:74716409..74721225-chr15:74724454..74727081,9	K562	blood:
3	chr15:74715079..74717127-chr15:74720885..74723638,2	MCF-7	breast:
4	chr15:74688261..74689838-chr15:74715380..74717091,2	K562	blood:
5	chr15:74710571..74713498-chr15:74715208..74717540,3	K562	blood:
6	chr15:74678579..74680979-chr15:74717975..74720152,2	MCF-7	breast:
7	chr15:74685612..74687526-chr15:74716877..74719383,2	K562	blood:
8	chr15:74679411..74681539-chr15:74718072..74720189,2	K562	blood:
9	chr15:74712355..74714244-chr15:74719225..74721195,3	K562	blood:
10	chr15:74682079..74683871-chr15:74715405..74717396,2	MCF-7	breast:
11	chr15:74712692..74714612-chr15:74714775..74716965,2	MCF-7	breast:
12	chr15:74708765..74710665-chr15:74717275..74720280,3	K562	blood:
13	chr15:74706547..74708360-chr15:74715336..74717632,2	K562	blood:
14	chr15:74675805..74678192-chr15:74715315..74717229,2	MCF-7	breast:
15	chr15:74664841..74669022-chr15:74717731..74721779,3	K562	blood:
16	chr15:74718075..74720590-chr15:74744935..74747887,2	K562	blood:
17	chr15:74715058..74717919-chr15:74753629..74755415,2	K562	blood:
18	chr15:74665724..74666602-chr15:74716103..74717034,2	K562	blood:
19	chr15:74709055..74711069-chr15:74716225..74718265,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247240	chromatin interactions
ENSG00000138623	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8036616	chr15:74716761-74716762	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567656784	chr15:74716767-74716768	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556558996	chr15:74716795-74716796	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538309096	chr15:74716859-74716860	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557208036	chr15:74716860-74716861	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117278916	chr15:74716961-74716962	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546147801	chr15:74716971-74716972	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188808821	chr15:74716983-74716984	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576522617	chr15:74717051-74717052	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11637691	chr15:74717086-74717087	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141790734	chr15:74717095-74717096	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539857116	chr15:74717116-74717117	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs193018039	chr15:74717188-74717189	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529003195	chr15:74717251-74717252	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544263456	chr15:74717253-74717254	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182799524	chr15:74717295-74717296	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536966669	chr15:74717296-74717297	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs117568548	chr15:74717390-74717391	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370613645	chr15:74717397-74717398	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551695905	chr15:74717400-74717401	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566829924	chr15:74717437-74717438	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527939209	chr15:74717442-74717443	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs77319700	chr15:74717451-74717452	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147105850	chr15:74717477-74717478	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185155820	chr15:74717507-74717508	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs558762118	chr15:74717545-74717546	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572536764	chr15:74717561-74717562	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77036271	chr15:74717563-74717564	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556674984	chr15:74717569-74717570	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs569121127	chr15:74717637-74717638	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs61153292	chr15:74717644-74717645	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557944815	chr15:74717659-74717660	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189074698	chr15:74717727-74717728	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28362889	chr15:74717788-74717789	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374556807	chr15:74717814-74717815	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28362888	chr15:74717833-74717834	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200710676	chr15:74717842-74717843	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs8042206	chr15:74717870-74717871	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543948110	chr15:74717875-74717876	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs200052543	chr15:74717879-74717880	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs8023274	chr15:74717902-74717903	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs28362887	chr15:74717954-74717955	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368583319	chr15:74717959-74717960	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191590957	chr15:74718006-74718007	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141605634	chr15:74718020-74718021	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184072606	chr15:74718058-74718059	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577315651	chr15:74718059-74718060	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371495446	chr15:74718170-74718171	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527991414	chr15:74718208-74718209	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543327620	chr15:74718212-74718213	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74707200-74722400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:74707800-74718000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr15:74708000-74717600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:74708400-74722400	Genic enhancers	Fetal Thymus	thymus
5	chr15:74709000-74717600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:74709200-74720200	Weak transcription	Esophagus	oesophagus
7	chr15:74709200-74720800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:74709200-74724800	Weak transcription	Primary T cells from cord blood	blood
9	chr15:74709400-74718000	Enhancers	HSMMtube	muscle
10	chr15:74709600-74718200	Enhancers	HMEC	breast
11	chr15:74709800-74718000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:74710000-74722800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:74710200-74718200	Enhancers	NHDF-Ad	bronchial
14	chr15:74710200-74718400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:74710200-74722000	Weak transcription	Dnd41	blood
16	chr15:74710400-74718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:74710400-74721200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:74710400-74722800	Enhancers	Brain Hippocampus Middle	brain
19	chr15:74711000-74718400	Enhancers	Brain Anterior Caudate	brain
20	chr15:74711000-74721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:74711000-74723200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr15:74711000-74723400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:74711400-74717000	Enhancers	Fetal Brain Female	brain
24	chr15:74711400-74717600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr15:74711400-74719000	Enhancers	Placenta	Placenta
26	chr15:74711800-74717800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr15:74712400-74717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr15:74712400-74718000	Enhancers	Ovary	ovary
29	chr15:74712600-74716800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:74712600-74717600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:74712600-74718200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:74713000-74724000	Weak transcription	Gastric	stomach
33	chr15:74713200-74717400	Enhancers	Fetal Muscle Leg	muscle
34	chr15:74713200-74725000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
35	chr15:74713400-74718000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:74713400-74724400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr15:74713400-74725200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:74713600-74717400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:74713600-74718600	Enhancers	Brain Substantia Nigra	brain
40	chr15:74714200-74716800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:74714200-74717000	Enhancers	NHLF	lung
42	chr15:74714200-74717800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:74714400-74716800	Enhancers	Primary B cells from cord blood	blood
44	chr15:74714400-74717000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:74714600-74717800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:74715000-74717000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:74715000-74719000	Enhancers	Brain Angular Gyrus	brain
48	chr15:74715000-74722600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr15:74715400-74717200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr15:74715600-74716800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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