Variant report

Variant	nsv980700
Chromosome Location	chr5:96277931-96279547
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	chr5:96279384-96279804	ECC-1	luminal epithelium:	n/a	chr5:96279642-96279650 chr5:96279420-96279431 chr5:96279524-96279537
2	FOS	chr5:96278619-96278923	HUVEC	blood vessel:	n/a	chr5:96278789-96278800
3	FOS	chr5:96278743-96278872	MCF10A-Er-Src	breast:	n/a	chr5:96278789-96278800
4	FOSL2	chr5:96278523-96279080	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr5:96278472-96279128	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr5:96278561-96279165	SK-N-SH	brain:	n/a	n/a
7	JUND	chr5:96278803-96278817	HepG2	liver:	n/a	n/a
8	JUND	chr5:96278591-96279114	SK-N-SH	brain:	n/a	chr5:96278789-96278800
9	JUND	chr5:96278604-96279042	SK-N-SH	brain:	n/a	chr5:96278789-96278800
10	MYC	chr5:96279059-96279064	MCF-7	breast:	n/a	n/a
11	MYC	chr5:96279068-96279092	MCF-7	breast:	n/a	n/a
12	NFATC1	chr5:96279413-96280261	GM12878	blood:	n/a	n/a
13	NFATC1	chr5:96279470-96280264	GM12878	blood:	n/a	n/a
14	NFATC1	chr5:96278475-96278896	GM12878	blood:	n/a	n/a
15	NFATC1	chr5:96278590-96278931	GM12878	blood:	n/a	n/a
16	NRF1	chr5:96279469-96279473	H1-hESC	embryonic stem cell:	n/a	n/a
17	PBX3	chr5:96278570-96279077	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr5:96278583-96279122	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr5:96278712-96279425	GM12892	blood:	n/a	n/a
20	POLR2A	chr5:96278209-96278241	ProgFib	skin:	n/a	n/a
21	POLR2A	chr5:96279456-96280011	GM12892	blood:	n/a	n/a
22	POLR2A	chr5:96279503-96280209	GM12891	blood:	n/a	n/a
23	POLR2A	chr5:96278735-96279079	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:96279487-96279934	GM12892	blood:	n/a	n/a
25	POLR2A	chr5:96277528-96278130	GM12891	blood:	n/a	n/a
26	POLR2A	chr5:96278863-96279482	GM12891	blood:	n/a	n/a
27	POLR2A	chr5:96279035-96279118	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:96277520-96277989	GM12892	blood:	n/a	n/a
29	POLR2A	chr5:96277501-96278211	GM12891	blood:	n/a	n/a
30	POLR2A	chr5:96278567-96278800	GM12891	blood:	n/a	n/a
31	POLR2A	chr5:96278661-96278881	GM12891	blood:	n/a	n/a
32	POLR2A	chr5:96278879-96280233	GM12891	blood:	n/a	n/a
33	POLR2A	chr5:96279499-96279949	GM12892	blood:	n/a	n/a
34	POLR2A	chr5:96278948-96279212	GM12892	blood:	n/a	n/a
35	POLR2A	chr5:96278929-96279332	GM12892	blood:	n/a	n/a
36	POLR2A	chr5:96278058-96278122	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:96277932-96278048	GM12878	blood:	n/a	n/a
38	POLR2A	chr5:96278577-96278992	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr5:96279512-96280094	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:96278797-96278963	K562	blood:	n/a	n/a
41	POLR2A	chr5:96278936-96279161	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:96279170-96279287	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:96278026-96278037	MCF-7	breast:	n/a	n/a
44	SRF	chr5:96279132-96279659	ECC-1	luminal epithelium:	n/a	chr5:96279420-96279434 chr5:96279423-96279437 chr5:96279422-96279435 chr5:96279420-96279437 chr5:96279423-96279434 chr5:96279422-96279435 chr5:96279424-96279438 chr5:96279423-96279440 chr5:96279424-96279433 chr5:96279420-96279438 chr5:96279421-96279436
45	TCF12	chr5:96278558-96279102	SK-N-SH	brain:	n/a	n/a
46	TCF12	chr5:96278563-96279134	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96275975..96278496-chr5:96297734..96299587,2	K562	blood:
2	chr5:96142551..96144780-chr5:96277248..96279292,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERAP2-1	chr5:96278003-96278072	NONHSAT102917
2	lnc-ERAP2-1	chr5:96278597-96278888	NONHSAT102917

Variant related genes	Relation type
ENSG00000227836	TF binding region
ENSG00000164307	chromatin interactions
ENSG00000200884	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191693430	chr5:96277938-96277939	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs78814373	chr5:96277942-96277943	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs527562250	chr5:96277958-96277959	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs552190052	chr5:96277980-96277981	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs534599190	chr5:96277981-96277982	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs78938536	chr5:96277983-96277984	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531581707	chr5:96277984-96277985	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555053118	chr5:96277988-96277989	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs183527246	chr5:96278018-96278019	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs568418539	chr5:96278029-96278030	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs368026852	chr5:96278043-96278044	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs571772274	chr5:96278049-96278050	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs552353334	chr5:96278071-96278072	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs201754342	chr5:96278086-96278087	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs35578012	chr5:96278112-96278113	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186068851	chr5:96278149-96278150	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148025033	chr5:96278202-96278203	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566403476	chr5:96278210-96278211	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs1152315	chr5:96278250-96278251	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540120044	chr5:96278251-96278252	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113796104	chr5:96278267-96278268	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576793492	chr5:96278270-96278271	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs113352849	chr5:96278275-96278276	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556265744	chr5:96278290-96278291	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs182165112	chr5:96278306-96278307	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557504889	chr5:96278340-96278341	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs71617155	chr5:96278375-96278376	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541651864	chr5:96278434-96278435	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577445973	chr5:96278439-96278440	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559902455	chr5:96278443-96278444	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527451602	chr5:96278452-96278453	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375678513	chr5:96278489-96278490	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186813436	chr5:96278542-96278543	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142133391	chr5:96278585-96278586	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564181796	chr5:96278630-96278631	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs146078112	chr5:96278648-96278649	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs556458285	chr5:96278730-96278731	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs140072265	chr5:96278777-96278778	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs535360589	chr5:96278782-96278783	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs556768349	chr5:96278801-96278802	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs549895260	chr5:96278821-96278822	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs568584666	chr5:96278850-96278851	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs143637694	chr5:96278860-96278861	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs191578670	chr5:96278868-96278869	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs146295456	chr5:96278884-96278885	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs183396790	chr5:96278899-96278900	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369658383	chr5:96278927-96278928	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566291196	chr5:96278932-96278933	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200553463	chr5:96278938-96278939	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs199809769	chr5:96278939-96278940	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96272600-96281400	Weak transcription	Spleen	Spleen
2	chr5:96272800-96279000	Weak transcription	Esophagus	oesophagus
3	chr5:96273000-96278000	Weak transcription	Lung	lung
4	chr5:96273000-96279000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:96273000-96285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:96273000-96288000	Weak transcription	Fetal Stomach	stomach
7	chr5:96273000-96299200	Weak transcription	Aorta	Aorta
8	chr5:96273200-96279600	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:96273400-96278000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:96273400-96278400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:96273400-96281000	Weak transcription	Fetal Lung	lung
12	chr5:96273400-96292800	Weak transcription	K562	blood
13	chr5:96273600-96280200	Weak transcription	HUVEC	blood vessel
14	chr5:96273800-96278200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:96273800-96278800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:96273800-96283000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:96273800-96285000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:96273800-96287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:96273800-96289600	Weak transcription	Fetal Kidney	kidney
20	chr5:96273800-96291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:96274200-96280000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:96274400-96279000	Weak transcription	NHLF	lung
23	chr5:96274400-96279800	Weak transcription	Hela-S3	cervix
24	chr5:96274400-96282000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:96274400-96282000	Weak transcription	A549	lung
26	chr5:96274400-96288200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:96274600-96278000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:96274600-96279600	Weak transcription	Right Atrium	heart
29	chr5:96274600-96279600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:96274600-96281000	Weak transcription	Small Intestine	intestine
31	chr5:96274600-96281200	Weak transcription	Brain Anterior Caudate	brain
32	chr5:96274600-96281200	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:96274600-96286000	Weak transcription	Adipose Nuclei	Adipose
34	chr5:96274600-96287400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:96274600-96288000	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:96274600-96288800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:96274600-96293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:96274600-96298400	Weak transcription	HSMM	muscle
39	chr5:96274800-96288400	Weak transcription	HepG2	liver
40	chr5:96275200-96279600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:96275800-96284400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:96275800-96284800	Weak transcription	Primary B cells from cord blood	blood
43	chr5:96276000-96288000	Weak transcription	Fetal Heart	heart
44	chr5:96276400-96278000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:96276400-96279800	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr5:96276400-96279800	Genic enhancers	Primary T cells fromperipheralblood	blood
47	chr5:96276600-96278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:96276600-96278600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:96276600-96278600	Weak transcription	Osteobl	bone
50	chr5:96276600-96279000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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