Variant report

Variant	esv996748
Chromosome Location	chr8:121433689-121442089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:121433844..121435918-chr8:121441332..121443775,2	K562	blood:
2	chr8:121101234..121102161-chr8:121433716..121434410,3	MCF-7	breast:
3	chr8:121101262..121102410-chr8:121433293..121434444,6	MCF-7	breast:
4	chr8:120866918..120869693-chr8:121441530..121443286,3	MCF-7	breast:
5	chr8:121433844..121435918-chr8:121441332..121443775,2	K562	blood:
6	chr8:121420399..121421994-chr8:121434767..121437184,2	K562	blood:
7	chr8:121135850..121136688-chr8:121433864..121434413,2	K562	blood:
8	chr8:121135490..121136428-chr8:121433569..121434184,4	MCF-7	breast:
9	chr8:120879491..120880321-chr8:121433570..121434551,2	K562	blood:
10	chr8:121434068..121435646-chr8:121448649..121451515,2	K562	blood:
11	chr8:121135392..121136242-chr8:121433858..121434429,2	MCF-7	breast:
12	chr8:121136473..121137636-chr8:121433375..121434640,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187955	chromatin interactions
ENSG00000136982	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569027598	chr8:121433715-121433716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567131346	chr8:121433868-121433869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528011788	chr8:121433943-121433944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185687993	chr8:121433970-121433971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs59574780	chr8:121433973-121433974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190566831	chr8:121434035-121434036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537899469	chr8:121434053-121434054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs193242193	chr8:121434206-121434207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144360829	chr8:121434256-121434257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539003801	chr8:121434308-121434309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147826511	chr8:121434398-121434399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs76284345	chr8:121434459-121434460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542992702	chr8:121434486-121434487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371167215	chr8:121434517-121434518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184485537	chr8:121434566-121434567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576313505	chr8:121434602-121434603	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543509459	chr8:121434726-121434727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10088035	chr8:121434735-121434736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532135344	chr8:121434772-121434773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139327931	chr8:121434814-121434815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532134923	chr8:121434820-121434821	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559125457	chr8:121434854-121434855	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527974964	chr8:121434863-121434864	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374860313	chr8:121434908-121434909	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150231399	chr8:121434909-121434910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200081720	chr8:121434992-121434993	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539159330	chr8:121435097-121435098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113436892	chr8:121435103-121435104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114186706	chr8:121435189-121435190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549976907	chr8:121435215-121435216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377592660	chr8:121435250-121435251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540558041	chr8:121435252-121435253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571701445	chr8:121435366-121435367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558890604	chr8:121435516-121435517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552962620	chr8:121435536-121435537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577203974	chr8:121435664-121435665	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538798828	chr8:121435759-121435760	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554137308	chr8:121435766-121435767	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs367579719	chr8:121435779-121435780	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372251315	chr8:121435885-121435886	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7825296	chr8:121435930-121435931	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536511026	chr8:121435969-121435970	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369103598	chr8:121435978-121435979	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs373498635	chr8:121435985-121435986	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554918470	chr8:121435996-121435997	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145697511	chr8:121436014-121436015	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148937659	chr8:121436040-121436041	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543672693	chr8:121436058-121436059	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562887626	chr8:121436060-121436061	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs145647102	chr8:121436091-121436092	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
4	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:121407800-121442800	Weak transcription	NHEK	skin
7	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
8	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
10	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:121410600-121456600	Weak transcription	Gastric	stomach
13	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
14	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
18	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
21	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
22	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
23	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
24	chr8:121417000-121435000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:121417000-121455800	Weak transcription	NHLF	lung
26	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
27	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
28	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
32	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
33	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:121417800-121440200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:121417800-121440800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:121417800-121450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:121417800-121451000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:121418000-121441000	Weak transcription	Fetal Lung	lung
40	chr8:121418000-121450400	Weak transcription	A549	lung
41	chr8:121419400-121435600	Weak transcription	NH-A	brain
42	chr8:121423600-121450400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:121423600-121455800	Weak transcription	Thymus	Thymus
44	chr8:121423600-121456000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:121423600-121456000	Weak transcription	Ovary	ovary
46	chr8:121423600-121456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:121423600-121456400	Weak transcription	Lung	lung
48	chr8:121423800-121456000	Weak transcription	Fetal Stomach	stomach
49	chr8:121424000-121435600	Weak transcription	Osteobl	bone
50	chr8:121424000-121442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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