Variant report

Variant	esv3420962
Chromosome Location	chr5:74634946-74635894
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	BHLHE40	chr5:74635426-74635614	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:74635404-74635732	HepG2	liver:	n/a	chr5:74635444-74635457
3	CEBPB	chr5:74635374-74635772	Hela-S3	cervix:	n/a	chr5:74635444-74635457
4	CEBPB	chr5:74635404-74635679	K562	blood:	n/a	chr5:74635444-74635457
5	CEBPB	chr5:74635417-74635724	K562	blood:	n/a	chr5:74635444-74635457
6	CEBPB	chr5:74635439-74635732	H1-hESC	embryonic stem cell:	n/a	chr5:74635444-74635457
7	CEBPB	chr5:74635399-74635747	IMR90	lung:	n/a	chr5:74635444-74635457
8	CEBPB	chr5:74635433-74635714	MCF-7	breast:	n/a	chr5:74635444-74635457
9	CEBPB	chr5:74635436-74635608	HepG2	liver:	n/a	chr5:74635444-74635457
10	CEBPB	chr5:74635393-74635754	K562	blood:	n/a	chr5:74635444-74635457
11	CEBPB	chr5:74635468-74635704	A549	lung:	n/a	n/a
12	CHD1	chr5:74635658-74635684	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F4	chr5:74635449-74635893	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr5:74635437-74635856	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr5:74635437-74635802	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr5:74635502-74635731	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr5:74635437-74635882	MCF10A-Er-Src	breast:	n/a	n/a
18	HEY1	chr5:74635370-74635718	HepG2	liver:	n/a	n/a
19	MAFK	chr5:74634914-74635002	K562	blood:	n/a	n/a
20	MXI1	chr5:74631714-74635061	SK-N-SH	brain:	n/a	chr5:74632912-74632927
21	MYC	chr5:74635408-74635751	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr5:74635403-74635814	MCF10A-Er-Src	breast:	n/a	n/a
23	NFE2	chr5:74635689-74635749	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:74635404-74638705	K562	blood:	n/a	n/a
25	POLR2A	chr5:74635294-74637251	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr5:74635572-74635609	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:74635615-74635679	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:74635424-74635594	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:74631825-74635078	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:74635416-74635697	HepG2	liver:	n/a	n/a
31	POLR2A	chr5:74632115-74635023	K562	blood:	n/a	n/a
32	POLR2A	chr5:74634922-74634952	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:74631833-74635019	GM12891	blood:	n/a	n/a
34	POLR2A	chr5:74630261-74635036	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:74635414-74635767	MCF10A-Er-Src	breast:	n/a	n/a
36	REST	chr5:74631514-74635189	H1-neurons	neurons:	n/a	chr5:74633899-74633919 chr5:74634974-74634983 chr5:74633899-74633919 chr5:74633905-74633919 chr5:74633939-74633948 chr5:74633163-74633173 chr5:74633899-74633919 chr5:74633900-74633918
37	STAT3	chr5:74635417-74635816	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr5:74635437-74635839	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:74635480-74635685	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr5:74635408-74635779	MCF10A-Er-Src	breast:	n/a	n/a
41	WRNIP1	chr5:74635468-74635698	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
2	chr5:74631860..74634058-chr5:74635733..74638438,3	K562	blood:
3	chr5:74635529..74638325-chr5:74638352..74640818,3	MCF-7	breast:
4	chr5:74634550..74639803-chr5:74643156..74647439,6	MCF-7	breast:
5	chr5:74631743..74634413-chr5:74635532..74638842,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247372	TF binding region
HMGCR	TF binding region
ENSG00000049860	chromatin interactions
ENSG00000247372	chromatin interactions
ENSG00000113161	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565334928	chr5:74635025-74635026	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs531093163	chr5:74635039-74635040	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs201532006	chr5:74635050-74635051	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs369055417	chr5:74635051-74635052	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs564146615	chr5:74635084-74635085	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs142837904	chr5:74635085-74635086	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs549850812	chr5:74635180-74635181	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs4704210	chr5:74635225-74635226	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529101367	chr5:74635315-74635316	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200596572	chr5:74635405-74635406	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370161691	chr5:74635407-74635408	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111259225	chr5:74635409-74635410	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184689640	chr5:74635528-74635529	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189473973	chr5:74635529-74635530	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534641111	chr5:74635655-74635656	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557591680	chr5:74635694-74635695	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571619642	chr5:74635695-74635696	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs76990778	chr5:74635702-74635703	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557446259	chr5:74635713-74635714	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs180695156	chr5:74635758-74635759	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538313904	chr5:74635791-74635792	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74631800-74636000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:74631800-74636400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:74631800-74637000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:74632000-74635000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:74632000-74635600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:74632000-74635600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:74632000-74635600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:74632000-74635800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:74632000-74635800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr5:74632000-74635800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:74632000-74635800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:74632000-74636000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:74632000-74636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:74632200-74635000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr5:74632200-74635400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:74632200-74635400	Active TSS	NHLF	lung
17	chr5:74632200-74635600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:74632200-74635600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr5:74632200-74635800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:74632200-74638400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr5:74632400-74635400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:74632400-74635400	Active TSS	Fetal Brain Female	brain
23	chr5:74632400-74635400	Active TSS	GM12878-XiMat	blood
24	chr5:74632400-74636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:74633400-74635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:74633600-74635000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:74633800-74635000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:74633800-74638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:74633800-74645800	Weak transcription	Gastric	stomach
30	chr5:74633800-74645800	Weak transcription	Spleen	Spleen
31	chr5:74633800-74650400	Weak transcription	Pancreas	Pancrea
32	chr5:74634000-74635000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:74634000-74635000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:74634000-74635000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr5:74634000-74635000	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr5:74634000-74635000	Transcr. at gene 5' and 3'	K562	blood
37	chr5:74634000-74635000	Flanking Active TSS	NHEK	skin
38	chr5:74634000-74637000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:74634000-74637200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:74634000-74638800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:74634000-74640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:74634000-74640400	Weak transcription	Left Ventricle	heart
43	chr5:74634200-74635000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:74634200-74635000	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:74634200-74635000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:74634200-74635000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:74634200-74635000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr5:74634200-74635000	Flanking Active TSS	Fetal Brain Male	brain
49	chr5:74634200-74635000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr5:74634200-74635000	Enhancers	Skeletal Muscle Female	skeletal muscle

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