Variant report

Variant	nsv977796
Chromosome Location	chr15:76181967-76184299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:76184081-76184710	IMR90	lung:	n/a	chr15:76184504-76184517 chr15:76184504-76184517 chr15:76184505-76184516 chr15:76184504-76184515
2	CEBPB	chr15:76184299-76184657	K562	blood:	n/a	chr15:76184504-76184517 chr15:76184504-76184517 chr15:76184505-76184516 chr15:76184504-76184515
3	CTCF	chr15:76183990-76184013	Medullo	brain:	n/a	n/a
4	E2F4	chr15:76184036-76184096	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr15:76184240-76184489	SK-N-SH_RA	brain:	n/a	chr15:76184412-76184421 chr15:76184411-76184425
6	FOS	chr15:76184233-76184603	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
7	FOS	chr15:76184233-76184575	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
8	FOS	chr15:76184058-76184598	HUVEC	blood vessel:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
9	FOS	chr15:76184233-76184566	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
10	FOS	chr15:76184233-76184602	MCF10A-Er-Src	breast:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184418-76184429 chr15:76184419-76184429
11	FOSL2	chr15:76184122-76184689	SK-N-SH	brain:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184419-76184429
12	FOSL2	chr15:76184293-76184580	HepG2	liver:	n/a	chr15:76184419-76184429 chr15:76184419-76184429 chr15:76184419-76184429
13	GATA2	chr15:76183915-76184620	HUVEC	blood vessel:	n/a	chr15:76184413-76184423
14	GATA3	chr15:76182974-76183311	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr15:76184017-76184818	SK-N-SH	brain:	n/a	chr15:76184413-76184423
16	GATA3	chr15:76184186-76184832	SK-N-SH	brain:	n/a	chr15:76184413-76184423
17	IRF1	chr15:76182387-76182388	K562	blood:	n/a	n/a
18	JUN	chr15:76184231-76184600	HUVEC	blood vessel:	n/a	chr15:76184419-76184429 chr15:76184248-76184262 chr15:76184419-76184429 chr15:76184419-76184429
19	JUND	chr15:76184272-76184602	K562	blood:	n/a	chr15:76184419-76184429 chr15:76184419-76184429 chr15:76184419-76184429
20	JUND	chr15:76184283-76184562	HepG2	liver:	n/a	chr15:76184419-76184429 chr15:76184419-76184429 chr15:76184419-76184429
21	MAZ	chr15:76183902-76185223	IMR90	lung:	n/a	n/a
22	MXI1	chr15:76183783-76184712	IMR90	lung:	n/a	n/a
23	POLR2A	chr15:76184203-76184623	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr15:76183059-76183093	ProgFib	skin:	n/a	n/a
25	POLR2A	chr15:76183959-76184060	MCF-7	breast:	n/a	n/a
26	POLR2A	chr15:76184123-76184546	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr15:76184179-76184543	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:76182303-76182343	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr15:76184197-76184493	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr15:76184113-76184216	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:76183867-76184727	IMR90	lung:	n/a	n/a
32	RAD21	chr15:76184246-76184499	SK-N-SH_RA	brain:	n/a	n/a
33	TCF12	chr15:76184005-76184817	SK-N-SH	brain:	n/a	chr15:76184320-76184330
34	TCF12	chr15:76184126-76184805	SK-N-SH	brain:	n/a	chr15:76184320-76184330

No.	Distal block	Cell Line	Cell type
1	chr15:76135763..76139600-chr15:76181865..76185802,4	MCF-7	breast:
2	chr15:76119180..76121817-chr15:76184055..76185596,2	K562	blood:
3	chr15:76173887..76175756-chr15:76183628..76185544,2	K562	blood:
4	chr15:76177375..76179318-chr15:76182768..76185723,2	MCF-7	breast:
5	chr15:76167386..76170253-chr15:76181012..76182661,2	K562	blood:
6	chr15:76172673..76175756-chr15:76183628..76185667,3	K562	blood:
7	chr15:76182009..76185203-chr15:76186533..76188570,4	K562	blood:

Variant related genes	Relation type
RN7SL510P	TF binding region
ENSG00000266308	chromatin interactions
ENSG00000140367	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574129893	chr15:76181987-76181988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79361279	chr15:76182011-76182012	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563033865	chr15:76182112-76182113	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs578017420	chr15:76182183-76182184	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560035762	chr15:76182385-76182386	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs335715	chr15:76182406-76182407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138032705	chr15:76182412-76182413	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560444458	chr15:76182514-76182515	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367912525	chr15:76182519-76182520	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567802646	chr15:76182559-76182560	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371497031	chr15:76182564-76182565	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs335714	chr15:76182596-76182597	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561240100	chr15:76182609-76182610	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531243791	chr15:76182630-76182631	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191915439	chr15:76182653-76182654	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144110983	chr15:76182677-76182678	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538323126	chr15:76182688-76182689	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs112446693	chr15:76182744-76182745	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148920865	chr15:76182801-76182802	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201532128	chr15:76182822-76182823	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs367659213	chr15:76182830-76182831	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369416295	chr15:76182839-76182840	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148273535	chr15:76182903-76182904	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs565834291	chr15:76182914-76182915	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376978746	chr15:76182928-76182929	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536447800	chr15:76182946-76182947	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs335713	chr15:76182949-76182950	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs141818608	chr15:76182977-76182978	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs561898650	chr15:76182978-76182979	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs150625550	chr15:76182984-76182985	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs184344390	chr15:76183093-76183094	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs578058927	chr15:76183094-76183095	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs62028936	chr15:76183191-76183192	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372325632	chr15:76183214-76183215	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs560739008	chr15:76183272-76183273	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs201246404	chr15:76183283-76183284	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs142780659	chr15:76183289-76183290	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs199550490	chr15:76183385-76183386	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542800961	chr15:76183387-76183388	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373102975	chr15:76183391-76183392	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs74024015	chr15:76183410-76183411	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189821769	chr15:76183442-76183443	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377218054	chr15:76183495-76183496	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564687587	chr15:76183496-76183497	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532239435	chr15:76183498-76183499	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547223620	chr15:76183545-76183546	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181426169	chr15:76183558-76183559	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs140074377	chr15:76183579-76183580	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs74343680	chr15:76183588-76183589	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539684049	chr15:76183598-76183599	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76137800-76188400	Weak transcription	Brain Anterior Caudate	brain
2	chr15:76138200-76183000	Weak transcription	Hela-S3	cervix
3	chr15:76138200-76195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:76138200-76195400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:76138400-76184000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:76140000-76184000	Weak transcription	Fetal Kidney	kidney
7	chr15:76141400-76195200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:76145200-76195200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:76149000-76195600	Weak transcription	Colonic Mucosa	Colon
10	chr15:76152800-76193400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:76159800-76195400	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:76161000-76182200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:76161800-76182000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:76162000-76184000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:76164200-76182400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:76165400-76188800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:76165600-76185800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:76165600-76194800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:76165800-76186600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:76166200-76186600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:76166400-76193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:76166400-76194600	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:76166400-76195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:76166400-76195400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:76166400-76195800	Weak transcription	Gastric	stomach
26	chr15:76166600-76194400	Weak transcription	Right Ventricle	heart
27	chr15:76166600-76195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:76166600-76195400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr15:76166600-76195800	Weak transcription	Aorta	Aorta
30	chr15:76166800-76184200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:76166800-76195400	Weak transcription	Fetal Intestine Small	intestine
32	chr15:76167000-76194400	Weak transcription	Spleen	Spleen
33	chr15:76167000-76195600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:76167000-76195800	Weak transcription	Esophagus	oesophagus
35	chr15:76167200-76182400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:76167200-76184000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:76167200-76184800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:76167200-76193800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:76167200-76195200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:76167200-76195600	Weak transcription	Lung	lung
41	chr15:76167600-76195400	Weak transcription	Brain Angular Gyrus	brain
42	chr15:76168000-76183000	Weak transcription	NHEK	skin
43	chr15:76168000-76185800	Weak transcription	Fetal Lung	lung
44	chr15:76168200-76195000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:76168800-76183000	Weak transcription	Fetal Brain Female	brain
46	chr15:76169400-76183200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:76172000-76184000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr15:76172000-76195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:76172200-76182400	Weak transcription	Adipose Nuclei	Adipose
50	chr15:76172200-76184000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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