Variant report

Variant	esv2571691
Chromosome Location	chr8:103940142-103941851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr8:103941830-103942653	GM12878	blood:	n/a	n/a
2	EP300	chr8:103941806-103942553	GM12878	blood:	n/a	n/a
3	JUND	chr8:103940377-103940441	HepG2	liver:	n/a	n/a
4	MAX	chr8:103939620-103940170	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr8:103939705-103940184	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr8:103939552-103940246	H1-hESC	embryonic stem cell:	n/a	n/a
7	NR2F2	chr8:103941023-103941541	K562	blood:	n/a	n/a
8	NR2F2	chr8:103941088-103941523	K562	blood:	n/a	n/a
9	RFX5	chr8:103941847-103941930	GM12878	blood:	n/a	n/a
10	USF1	chr8:103939613-103940248	ECC-1	luminal epithelium:	n/a	n/a
11	USF1	chr8:103939642-103940183	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr8:103939990-103940144	Hela-S3	cervix:	n/a	chr8:103940055-103940066

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103941652..103943631-chr8:103947233..103949355,2	K562	blood:
2	chr8:103939891..103942069-chr8:103943605..103945175,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-4	chr8:103941606-103942746	NONHSAT128133

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
RPL5P24	TF binding region
ENSG00000253320	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149535523	chr8:103940149-103940150	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs528933557	chr8:103940158-103940159	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs573324486	chr8:103940176-103940177	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs6468847	chr8:103940219-103940220	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558954136	chr8:103940223-103940224	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs73699345	chr8:103940331-103940332	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs587946	chr8:103940336-103940337	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs557148006	chr8:103940341-103940342	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575330876	chr8:103940352-103940353	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553041016	chr8:103940354-103940355	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373610653	chr8:103940374-103940375	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2513880	chr8:103940385-103940386	Enhancers Weak transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs3018949	chr8:103940416-103940417	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370573431	chr8:103940455-103940456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528328385	chr8:103940501-103940502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113003521	chr8:103940502-103940503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113867381	chr8:103940523-103940524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562241092	chr8:103940541-103940542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3018950	chr8:103940551-103940552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34563936	chr8:103940562-103940563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549019325	chr8:103940573-103940574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372577840	chr8:103940591-103940592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375625183	chr8:103940605-103940606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113461781	chr8:103940615-103940616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113192634	chr8:103940624-103940625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554946622	chr8:103940644-103940645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111339767	chr8:103940650-103940651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28607474	chr8:103940655-103940656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28621575	chr8:103940657-103940658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550385751	chr8:103940789-103940790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569473468	chr8:103940791-103940792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530315943	chr8:103940953-103940954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548755844	chr8:103940965-103940966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567182059	chr8:103940973-103940974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564517048	chr8:103940983-103940984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534462095	chr8:103941035-103941036	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs558933237	chr8:103941053-103941054	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs62526536	chr8:103941094-103941095	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs533366591	chr8:103941129-103941130	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs546638794	chr8:103941162-103941163	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs560653367	chr8:103941186-103941187	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs538370688	chr8:103941248-103941249	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs529344629	chr8:103941375-103941376	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs556374481	chr8:103941414-103941415	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs574828136	chr8:103941489-103941490	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370103442	chr8:103941515-103941516	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs542422451	chr8:103941516-103941517	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370529116	chr8:103941547-103941548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7844384	chr8:103941553-103941554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572822246	chr8:103941566-103941567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
3	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
4	chr8:103934800-103941400	Weak transcription	Liver	Liver
5	chr8:103937400-103942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:103937600-103941800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:103937600-103942000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:103937800-103940200	Enhancers	Ovary	ovary
9	chr8:103937800-103942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:103937800-103942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:103938200-103941600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:103938200-103941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:103938200-103942000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:103938200-103942200	Weak transcription	Fetal Lung	lung
16	chr8:103938200-103942200	Weak transcription	Hela-S3	cervix
17	chr8:103938200-103943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:103938200-103947200	Weak transcription	Right Atrium	heart
19	chr8:103938400-103941600	Weak transcription	GM12878-XiMat	blood
20	chr8:103938600-103941600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:103939000-103940600	Enhancers	Pancreas	Pancrea
22	chr8:103939000-103941600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:103939000-103941600	Weak transcription	Gastric	stomach
24	chr8:103939000-103941600	Weak transcription	Stomach Mucosa	stomach
25	chr8:103939000-103941600	Weak transcription	K562	blood
26	chr8:103939000-103941800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:103939200-103940400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:103939400-103940200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:103939400-103940400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:103939400-103940400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:103939600-103940200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:103939600-103940200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:103939600-103940200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:103939800-103940200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:103939800-103940200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:103939800-103940200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:103939800-103940200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr8:103939800-103940200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:103939800-103940200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:103939800-103940200	Weak transcription	Placenta	Placenta
41	chr8:103939800-103940200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:103939800-103940400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:103939800-103940400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:103939800-103940400	Enhancers	Fetal Intestine Large	intestine
45	chr8:103939800-103940600	Enhancers	HepG2	liver
46	chr8:103940000-103940200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:103940000-103940200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:103940000-103940200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:103940000-103940200	Enhancers	Thymus	Thymus
50	chr8:103940000-103940200	Enhancers	NHDF-Ad	bronchial

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