Variant report

Variant	nsv968948
Chromosome Location	chr5:74069688-74072622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:74069740-74069852	Spleen_OC	spleen:	n/a	n/a
2	FOSL2	chr5:74071966-74072220	HepG2	liver:	n/a	n/a
3	FOSL2	chr5:74068631-74069945	HepG2	liver:	n/a	chr5:74068767-74068777
4	FOSL2	chr5:74070660-74070921	HepG2	liver:	n/a	n/a
5	FOSL2	chr5:74071011-74071434	HepG2	liver:	n/a	n/a
6	JUN	chr5:74071775-74071909	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:74071735-74071813	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:74069303-74069900	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:74070694-74071357	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:74071555-74071939	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:74070097-74070372	HepG2	liver:	n/a	n/a
12	POLR2A	chr5:74071061-74071350	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:74069441-74069994	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:74071814-74071852	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:74070710-74071049	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:74069645-74069877	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:74069601-74069895	GM12892	blood:	n/a	n/a
18	POLR2A	chr5:74069567-74069885	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:74072199-74072336	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:74070105-74070205	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:74070639-74070881	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:74072134-74072137	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:74069561-74069925	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:74072134-74072306	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:74072162-74072231	MCF-7	breast:	n/a	n/a
26	POLR2A	chr5:74072488-74072940	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:74070612-74071450	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:74069582-74069955	GM12892	blood:	n/a	n/a
29	POLR2A	chr5:74071021-74071388	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:74070446-74070893	HepG2	liver:	n/a	n/a
31	POLR2A	chr5:74070872-74071446	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:74071214-74071224	A549	lung:	n/a	n/a
33	POLR2A	chr5:74069549-74069734	K562	blood:	n/a	n/a
34	POLR2A	chr5:74070103-74070178	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:74069518-74069917	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:74070684-74070850	HepG2	liver:	n/a	n/a
37	POLR2A	chr5:74071473-74072369	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:74070142-74070405	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr5:74072534-74072538	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:74069907-74069930	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:74069576-74069913	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr5:74071563-74072362	HepG2	liver:	n/a	n/a
43	POLR2A	chr5:74069400-74069937	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr5:74069592-74069928	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:74071129-74071408	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr5:74072254-74072296	A549	lung:	n/a	n/a
47	POLR2A	chr5:74071582-74071922	HepG2	liver:	n/a	n/a
48	POLR2A	chr5:74069671-74069703	ProgFib	skin:	n/a	n/a
49	POLR2A	chr5:74071166-74071346	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:74072030-74072405	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74061790..74063907-chr5:74068318..74070016,2	MCF-7	breast:
2	chr5:74054567..74056927-chr5:74071615..74073229,2	MCF-7	breast:
3	chr5:74070152..74072138-chr5:74074887..74076433,2	K562	blood:
4	chr5:74068761..74070273-chr5:74071485..74073703,2	K562	blood:
5	chr5:74063430..74066095-chr5:74068768..74070600,2	MCF-7	breast:
6	chr5:74070106..74071963-chr5:74087987..74090742,2	K562	blood:
7	chr5:74068761..74070273-chr5:74071485..74073703,2	K562	blood:
8	chr5:74072325..74074602-chr5:74076186..74079025,2	K562	blood:
9	chr5:74068532..74070395-chr5:74082418..74084693,2	K562	blood:
10	chr5:74063024..74065513-chr5:74069394..74071434,2	K562	blood:
11	chr5:74065827..74070020-chr5:74073603..74077107,4	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1330P	TF binding region
ENSG00000164347	chromatin interactions
ENSG00000199645	chromatin interactions
ENSG00000164346	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372955623	chr5:74069709-74069710	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs140759929	chr5:74069738-74069739	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs538852718	chr5:74069782-74069783	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs144675267	chr5:74069803-74069804	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs370555196	chr5:74069829-74069830	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs146708731	chr5:74069845-74069846	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374489548	chr5:74069849-74069850	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs368758562	chr5:74069855-74069856	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs6874609	chr5:74069863-74069864	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs200848258	chr5:74069864-74069865	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145490462	chr5:74069881-74069882	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs577031670	chr5:74069902-74069903	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs370640487	chr5:74069913-74069914	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs367863470	chr5:74069932-74069933	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs111310595	chr5:74069953-74069954	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs116709668	chr5:74069973-74069974	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs556093009	chr5:74069976-74069977	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs576026229	chr5:74069986-74069987	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs372365899	chr5:74070001-74070002	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs183874840	chr5:74070024-74070025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549605367	chr5:74070031-74070032	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs6883278	chr5:74070053-74070054	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs527812969	chr5:74070064-74070065	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373241087	chr5:74070089-74070090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs6883420	chr5:74070134-74070135	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs564716782	chr5:74070231-74070232	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs5020673	chr5:74070257-74070258	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs572643126	chr5:74070298-74070299	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs570408147	chr5:74070337-74070338	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs535017624	chr5:74070346-74070347	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs558423701	chr5:74070364-74070365	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs188543886	chr5:74070395-74070396	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs28679859	chr5:74070429-74070430	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs568038083	chr5:74070436-74070437	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs533906883	chr5:74070437-74070438	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs576803141	chr5:74070461-74070462	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs3968877	chr5:74070492-74070493	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570630742	chr5:74070493-74070494	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs539296902	chr5:74070494-74070495	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs58931540	chr5:74070495-74070496	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575965973	chr5:74070505-74070506	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs541800088	chr5:74070509-74070510	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs149297713	chr5:74070560-74070561	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs371241873	chr5:74070573-74070574	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs555753424	chr5:74070619-74070620	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs373049273	chr5:74070681-74070682	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs572415376	chr5:74070697-74070698	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs541523412	chr5:74070707-74070708	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs369644643	chr5:74070726-74070727	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs139627120	chr5:74070730-74070731	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Multiple myeloma	17550852	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
Bladder cancer	21909424	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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74064000-74070200	Weak transcription	Aorta	Aorta
2	chr5:74064000-74071000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:74064000-74076000	Weak transcription	Esophagus	oesophagus
4	chr5:74064000-74077200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:74064000-74112400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:74064200-74070600	Weak transcription	Pancreas	Pancrea
7	chr5:74064200-74073000	Weak transcription	Gastric	stomach
8	chr5:74064200-74073800	Weak transcription	Small Intestine	intestine
9	chr5:74064200-74076000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:74064200-74086000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:74064200-74102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:74064400-74073800	Weak transcription	Stomach Mucosa	stomach
13	chr5:74064400-74076600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:74064400-74079600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:74064400-74086600	Weak transcription	Fetal Heart	heart
16	chr5:74064400-74134600	Weak transcription	Fetal Brain Male	brain
17	chr5:74064600-74074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:74064600-74079400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:74064600-74079600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:74064800-74070000	Strong transcription	Dnd41	blood
21	chr5:74064800-74070000	Strong transcription	HMEC	breast
22	chr5:74064800-74072400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:74064800-74074000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:74064800-74074400	Strong transcription	Osteobl	bone
25	chr5:74064800-74074600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:74064800-74074600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:74064800-74074600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:74064800-74074800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:74064800-74074800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr5:74064800-74075000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:74064800-74075000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:74064800-74075000	Strong transcription	NH-A	brain
33	chr5:74064800-74079400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:74064800-74079600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:74064800-74080000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr5:74064800-74080400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:74064800-74101200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:74065000-74069800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:74065000-74070000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:74065000-74070000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:74065000-74070000	Strong transcription	HSMM	muscle
42	chr5:74065000-74070200	Strong transcription	Brain Anterior Caudate	brain
43	chr5:74065000-74070400	Strong transcription	Brain Substantia Nigra	brain
44	chr5:74065000-74070800	Strong transcription	NHDF-Ad	bronchial
45	chr5:74065000-74072000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr5:74065000-74072000	Strong transcription	Brain Germinal Matrix	brain
47	chr5:74065000-74072000	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:74065000-74072400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:74065000-74072400	Strong transcription	Primary T cells from cord blood	blood
50	chr5:74065000-74072400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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