Variant report

Variant	nsv968954
Chromosome Location	chr5:77939197-77940805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:62)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:77940800-77940950	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr5:77940700-77940850	BJ	skin:	n/a	n/a
3	CTCF	chr5:77940700-77940850	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr5:77940760-77940910	NHDF-neo	bronchial:	n/a	n/a
5	CTCF	chr5:77940780-77940930	HRE	kidney:	n/a	n/a
6	FOXA1	chr5:77940593-77940931	T-47D	breast:	n/a	n/a
7	FOXA1	chr5:77940581-77940839	T-47D	breast:	n/a	n/a
8	KAP1	chr5:77940646-77941026	HEK293	kidney:	n/a	n/a
9	MAFF	chr5:77940150-77940193	HepG2	liver:	n/a	n/a
10	MAFK	chr5:77940127-77940275	IMR90	lung:	n/a	n/a
11	MAFK	chr5:77940074-77940274	HepG2	liver:	n/a	n/a
12	MAFK	chr5:77940016-77940233	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:77940127-77940156	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr5:77940490-77940746	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr5:77940248-77940266	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:77940595-77941058	IMR90	lung:	n/a	n/a
17	RAD21	chr5:77940606-77940888	SK-N-SH_RA	brain:	n/a	n/a
18	TFAP2C	chr5:77940581-77941056	Hela-S3	cervix:	n/a	chr5:77940726-77940741

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:77940704-77940754	K562	blood:	n/a
2	chr5:77940704-77940754	K562	blood:	n/a
3	chr5:77940704-77940754	NH-A	brain:	n/a
4	chr5:77940704-77940754	NHDF-neo	bronchial:	n/a
5	chr5:77940704-77940754	ovcar-3	ovarian:	n/a
6	chr5:77940704-77940754	RPTEC	kidney:	n/a
7	chr5:77940704-77940754	MCF-7	breast:	n/a
8	chr5:77940704-77940754	PrEC	prostate:	n/a
9	chr5:77940704-77940754	ECC-1	luminal epithelium:	n/a
10	chr5:77940704-77940754	AG04449	skin:	fetal
11	chr5:77940704-77940754	HRE	kidney:	n/a
12	chr5:77940704-77940754	T-47D	breast:	n/a
13	chr5:77940704-77940754	HEK293	kidney:	embryo
14	chr5:77940704-77940754	HRCEpiC	kidney:	n/a
15	chr5:77940704-77940754	ProgFib	skin:	n/a
16	chr5:77940704-77940754	MCF10A-Er-Src	breast:	n/a
17	chr5:77940704-77940754	BJ	skin:	n/a
18	chr5:77940704-77940754	H1-hESC	embryonic stem cell:	embryo
19	chr5:77940704-77940754	HPAEpiC	pulmonary alveolar:	n/a
20	chr5:77940704-77940754	SK-N-SH	brain:	n/a
21	chr5:77940704-77940754	SKMC	muscle:	n/a
22	chr5:77940704-77940754	PFSK-1	brain:	n/a
23	chr5:77940704-77940754	GM19239	blood:	n/a
24	chr5:77940704-77940754	Hepatocyte	liver:	n/a
25	chr5:77940704-77940754	HMEC	breast:	n/a
26	chr5:77940704-77940754	SK-N-MC	brain:	n/a
27	chr5:77940704-77940754	U87	brain:	n/a
28	chr5:77940704-77940754	Hela-S3	cervix:	n/a
29	chr5:77940704-77940754	AG09309	skin:	n/a
30	chr5:77940704-77940754	GM06990	blood:	n/a
31	chr5:77940704-77940754	GM12878	blood:	n/a
32	chr5:77940704-77940754	Jurkat	blood:	n/a
33	chr5:77940704-77940754	AoSMC	blood vessel:	n/a
34	chr5:77940704-77940754	NB4	blood:	n/a
35	chr5:77940704-77940754	PANC-1	pancreas:	n/a
36	chr5:77940704-77940754	SK-N-SH_RA	brain:	n/a
37	chr5:77940704-77940754	HIPEpiC	eye:	n/a
38	chr5:77940704-77940754	AG09319	gingival:	n/a
39	chr5:77940704-77940754	AG10803	skin:	n/a
40	chr5:77940704-77940754	HCT-116	colon:	n/a
41	chr5:77940704-77940754	HAEpiC	amniotic membrane:	n/a
42	chr5:77940704-77940754	HRPEpiC	eye:	n/a
43	chr5:77940704-77940754	NHBE	bronchial:	n/a
44	chr5:77940704-77940754	IMR90	lung:	fetal
45	chr5:77940704-77940754	HEEpiC	esophagus:	n/a
46	chr5:77940704-77940754	AG04450	lung:	fetal
47	chr5:77940704-77940754	HUVEC	blood vessel:	n/a
48	chr5:77940704-77940754	HL-60	blood:	n/a
49	chr5:77940704-77940754	A549	lung:	n/a
50	chr5:77940704-77940754	HepG2	liver:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:77940516..77942352-chr5:77943015..77944536,2	MCF-7	breast:
2	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
3	chr5:77784933..77786634-chr5:77938068..77939590,2	K562	blood:

No data

Variant related genes	Relation type
HMGB1P21	TF binding region
LHFPL2	TF binding region
HMGB1P21	CpG island
LHFPL2	CpG island
ENSG00000145685	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146998316	chr5:77939244-77939245	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181155100	chr5:77939279-77939280	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200616338	chr5:77939326-77939327	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138219355	chr5:77939337-77939338	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372103221	chr5:77939368-77939369	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142364019	chr5:77939383-77939384	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs185994756	chr5:77939483-77939484	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531665141	chr5:77939517-77939518	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548388812	chr5:77939624-77939625	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569718726	chr5:77939677-77939678	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562269196	chr5:77939682-77939683	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375393054	chr5:77939725-77939726	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs341928	chr5:77939736-77939737	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs55938458	chr5:77939753-77939754	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536102729	chr5:77939754-77939755	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372512156	chr5:77939868-77939869	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539455755	chr5:77939919-77939920	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372946475	chr5:77939924-77939925	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61240757	chr5:77939944-77939945	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530587610	chr5:77939958-77939959	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148214567	chr5:77939964-77939965	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535501197	chr5:77939987-77939988	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555602231	chr5:77940009-77940010	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565910189	chr5:77940035-77940036	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs534506177	chr5:77940044-77940045	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs558065862	chr5:77940101-77940102	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577837880	chr5:77940185-77940186	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545813429	chr5:77940193-77940194	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs114553513	chr5:77940200-77940201	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs576139107	chr5:77940257-77940258	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs541875676	chr5:77940406-77940407	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs341927	chr5:77940438-77940439	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527928135	chr5:77940448-77940449	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541252321	chr5:77940485-77940486	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141229699	chr5:77940503-77940504	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs77473003	chr5:77940536-77940537	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188846525	chr5:77940579-77940580	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs181694954	chr5:77940649-77940650	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs163633	chr5:77940652-77940653	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549098802	chr5:77940742-77940743	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs565621591	chr5:77940744-77940745	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs146215958	chr5:77940759-77940760	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs557639503	chr5:77940760-77940761	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs341926	chr5:77940790-77940791	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	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
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
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	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	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77928200-77942400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:77931000-77942800	Weak transcription	K562	blood
3	chr5:77933800-77940600	Weak transcription	Placenta	Placenta
4	chr5:77933800-77941400	Weak transcription	Right Atrium	heart
5	chr5:77933800-77943200	Weak transcription	Esophagus	oesophagus
6	chr5:77934600-77940600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:77934600-77942400	Weak transcription	Colonic Mucosa	Colon
8	chr5:77935200-77940400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:77935200-77942000	Weak transcription	Right Ventricle	heart
10	chr5:77935200-77942600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:77935400-77942000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:77935400-77942600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:77936000-77942600	Weak transcription	Fetal Brain Female	brain
14	chr5:77936800-77940400	Weak transcription	Brain Anterior Caudate	brain
15	chr5:77936800-77940600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:77936800-77940800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:77937000-77940400	Weak transcription	Hela-S3	cervix
18	chr5:77937000-77940600	Weak transcription	Aorta	Aorta
19	chr5:77937000-77942600	Weak transcription	Left Ventricle	heart
20	chr5:77937000-77942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:77937000-77943200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:77937000-77943200	Weak transcription	Psoas Muscle	Psoas
23	chr5:77937200-77939400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:77937200-77940000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:77937200-77940200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:77937200-77940200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:77937200-77940200	Weak transcription	Brain Substantia Nigra	brain
28	chr5:77937200-77940200	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:77937200-77940200	Weak transcription	HSMMtube	muscle
30	chr5:77937200-77940400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:77937200-77940400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:77937200-77940400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:77937200-77940400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:77937200-77940600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:77937200-77940600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:77937200-77940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:77937200-77940600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:77937200-77940600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:77937200-77940600	Weak transcription	Stomach Mucosa	stomach
40	chr5:77937200-77940600	Weak transcription	NH-A	brain
41	chr5:77937200-77940600	Strong transcription	NHEK	skin
42	chr5:77937200-77940800	Weak transcription	NHDF-Ad	bronchial
43	chr5:77937200-77940800	Weak transcription	Osteobl	bone
44	chr5:77937200-77941200	Weak transcription	Adipose Nuclei	Adipose
45	chr5:77937200-77942000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:77937200-77942000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:77937200-77942000	Weak transcription	Fetal Heart	heart
48	chr5:77937200-77942000	Weak transcription	Small Intestine	intestine
49	chr5:77937200-77942000	Weak transcription	NHLF	lung
50	chr5:77937200-77942200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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