Variant report

Variant	esv3347346
Chromosome Location	chr8:102695962-102697982
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	CTCF	chr8:102696923-102697045	Kidney_OC	kidney:	n/a	n/a
2	POLR2A	chr8:102697810-102698882	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:102696496-102696694	GM12878	blood:	n/a	n/a
4	ZNF384	chr8:102697856-102697940	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000253629	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201867437	chr8:102696030-102696031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13268646	chr8:102696075-102696076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200459708	chr8:102696079-102696080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201401287	chr8:102696087-102696088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199522825	chr8:102696113-102696114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62517446	chr8:102696172-102696173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28392540	chr8:102696189-102696190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540805387	chr8:102696199-102696200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367767558	chr8:102696243-102696244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371411574	chr8:102696260-102696261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559437181	chr8:102696284-102696285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201439517	chr8:102696293-102696294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35601341	chr8:102696305-102696306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61099979	chr8:102696306-102696307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533213859	chr8:102696319-102696320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71276997	chr8:102696321-102696322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377293074	chr8:102696322-102696323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374721038	chr8:102696342-102696343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56105827	chr8:102696350-102696351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59599708	chr8:102696379-102696380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56135209	chr8:102696383-102696384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545388707	chr8:102696386-102696387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397794158	chr8:102696391-102696392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528552294	chr8:102696395-102696396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527981051	chr8:102696412-102696413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368307005	chr8:102696422-102696423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199910032	chr8:102696459-102696460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530926651	chr8:102696468-102696469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541514795	chr8:102696471-102696472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190895823	chr8:102696473-102696474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544292155	chr8:102696512-102696513	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567928003	chr8:102696535-102696536	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs182332349	chr8:102696536-102696537	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs547179211	chr8:102696548-102696549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185901197	chr8:102696607-102696608	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150423711	chr8:102696612-102696613	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs138237766	chr8:102696615-102696616	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs3956240	chr8:102696616-102696617	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs569590985	chr8:102696661-102696662	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537035217	chr8:102696691-102696692	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112899981	chr8:102696694-102696695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201551799	chr8:102696765-102696766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573569569	chr8:102696793-102696794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534519613	chr8:102696816-102696817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569045854	chr8:102696823-102696824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552704308	chr8:102696846-102696847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537689323	chr8:102696859-102696860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183240903	chr8:102696866-102696867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55886435	chr8:102696889-102696890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367903322	chr8:102696898-102696899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Cancer	20164920	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102670800-102699000	Weak transcription	Right Ventricle	heart
2	chr8:102680000-102698000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:102683200-102702000	Weak transcription	Fetal Lung	lung
4	chr8:102685600-102698000	Weak transcription	Aorta	Aorta
5	chr8:102688600-102697800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:102690200-102697800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:102690200-102697800	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:102690200-102698000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:102690200-102698000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:102696000-102697800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:102696200-102698000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:102696200-102701600	Weak transcription	Gastric	stomach
13	chr8:102696400-102698000	Weak transcription	Liver	Liver
14	chr8:102696400-102698000	Weak transcription	Left Ventricle	heart
15	chr8:102696400-102699600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:102696400-102701000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:102696600-102697800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:102696600-102698200	Weak transcription	Primary T cells from cord blood	blood
19	chr8:102696600-102698200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:102696600-102704600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:102696600-102708400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:102696800-102699200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:102696800-102701800	Weak transcription	Fetal Intestine Large	intestine
24	chr8:102696800-102701800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:102696800-102701800	Weak transcription	Right Atrium	heart
26	chr8:102696800-102702000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:102696800-102702000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:102697000-102699000	Weak transcription	Adipose Nuclei	Adipose
29	chr8:102697000-102700400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:102697000-102703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:102697000-102706600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:102697400-102698000	Weak transcription	Ovary	ovary
33	chr8:102697600-102698000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:102697600-102698000	Weak transcription	Fetal Stomach	stomach
35	chr8:102697600-102713000	Weak transcription	Psoas Muscle	Psoas
36	chr8:102697800-102698400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:102697800-102698400	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr8:102697800-102698600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:102697800-102701800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr8:102697800-102703000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:102697800-102706800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links