Variant report

Variant	esv3443513
Chromosome Location	chr8:103601176-103604074
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
2	chr8:103603451..103607129-chr8:103658621..103661960,3	MCF-7	breast:
3	chr8:103588333..103589875-chr8:103599319..103602205,2	K562	blood:
4	chr8:103596320..103599073-chr8:103599256..103601533,2	MCF-7	breast:
5	chr8:103596917..103599330-chr8:103603358..103606131,2	K562	blood:
6	chr8:103602402..103604318-chr8:103640333..103643151,2	K562	blood:
7	chr8:103600383..103602340-chr8:103602430..103605144,3	K562	blood:
8	chr8:103587589..103591283-chr8:103601784..103605142,3	MCF-7	breast:
9	chr8:103600383..103602250-chr8:103602430..103605105,2	K562	blood:
10	chr8:103602171..103604876-chr8:103822543..103824319,2	K562	blood:
11	chr8:103600160..103603020-chr8:103819170..103821439,2	K562	blood:
12	chr8:103599487..103601555-chr8:103818365..103820635,2	K562	blood:
13	chr8:103552849..103555582-chr8:103602690..103604723,2	K562	blood:
14	chr8:103248705..103250283-chr8:103601762..103604480,2	K562	blood:
15	chr8:103602047..103604905-chr8:103607309..103609943,2	K562	blood:
16	chr8:103600249..103606482-chr8:103817809..103824485,7	MCF-7	breast:
17	chr8:103423433..103425063-chr8:103603155..103605129,3	K562	blood:
18	chr8:103599978..103602949-chr8:103693848..103696223,2	K562	blood:
19	chr8:103422259..103425163-chr8:103601854..103604896,4	K562	blood:
20	chr8:103422782..103425169-chr8:103603873..103609183,4	MCF-7	breast:
21	chr8:103602251..103604724-chr8:103665946..103668457,4	K562	blood:
22	chr8:103600722..103604474-chr8:103665946..103668547,4	K562	blood:
23	chr8:103600383..103602250-chr8:103602430..103605105,2	K562	blood:
24	chr8:103600383..103602340-chr8:103602430..103605144,3	K562	blood:
25	chr8:103370631..103372413-chr8:103602268..103605120,2	K562	blood:
26	chr8:103594551..103603288-chr8:103816901..103824856,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000104517	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535532534	chr8:103601193-103601194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554114230	chr8:103601199-103601200	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377215069	chr8:103601220-103601221	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539762543	chr8:103601254-103601255	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552697353	chr8:103601301-103601302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2436925	chr8:103601317-103601318	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs576032500	chr8:103601324-103601325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs543373078	chr8:103601335-103601336	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561739015	chr8:103601415-103601416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573844749	chr8:103601422-103601423	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541493029	chr8:103601436-103601437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560123152	chr8:103601508-103601509	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191850807	chr8:103601519-103601520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372230853	chr8:103601569-103601570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565479392	chr8:103601613-103601614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564357248	chr8:103601672-103601673	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77092426	chr8:103601705-103601706	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145241541	chr8:103601719-103601720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568056370	chr8:103601720-103601721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184080442	chr8:103601731-103601732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547437032	chr8:103601733-103601734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566167788	chr8:103601751-103601752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539978534	chr8:103601761-103601762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558179427	chr8:103601835-103601836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188502133	chr8:103601858-103601859	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs193085833	chr8:103601903-103601904	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs117538577	chr8:103602009-103602010	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs149176786	chr8:103602010-103602011	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs143524356	chr8:103602049-103602050	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs563354187	chr8:103602059-103602060	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369405348	chr8:103602062-103602063	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs185732806	chr8:103602063-103602064	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545941259	chr8:103602095-103602096	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs190643011	chr8:103602101-103602102	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs568446139	chr8:103602102-103602103	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs150986269	chr8:103602148-103602149	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs537601989	chr8:103602256-103602257	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs531682313	chr8:103602261-103602262	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs181758640	chr8:103602318-103602319	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs557167884	chr8:103602368-103602369	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs183678244	chr8:103602397-103602398	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528856598	chr8:103602437-103602438	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs188053043	chr8:103602439-103602440	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs56131612	chr8:103602469-103602470	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532879780	chr8:103602470-103602471	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs181298786	chr8:103602560-103602561	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs141078915	chr8:103602584-103602585	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs186448639	chr8:103602629-103602630	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs6468836	chr8:103602630-103602631	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2511751	chr8:103602649-103602650	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

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
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103591600-103602200	Weak transcription	Right Ventricle	heart
2	chr8:103591600-103602400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:103596600-103612600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:103597200-103602200	Weak transcription	Left Ventricle	heart
5	chr8:103597600-103602200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:103598200-103602400	Weak transcription	Hela-S3	cervix
7	chr8:103598200-103603000	Weak transcription	NH-A	brain
8	chr8:103598400-103602000	Weak transcription	Brain Anterior Caudate	brain
9	chr8:103598400-103602200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:103598400-103602200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:103598400-103602200	Enhancers	K562	blood
12	chr8:103598400-103602400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:103598400-103602400	Weak transcription	Fetal Brain Male	brain
14	chr8:103598400-103603000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:103598400-103612400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:103598600-103601600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:103598600-103601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:103598600-103601800	Weak transcription	Fetal Lung	lung
19	chr8:103598600-103602000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:103598600-103602000	Weak transcription	Right Atrium	heart
21	chr8:103598600-103602200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:103598600-103602200	Weak transcription	Fetal Heart	heart
23	chr8:103598600-103602400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:103598600-103602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:103598600-103602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:103598600-103604600	Weak transcription	Placenta	Placenta
27	chr8:103598800-103611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:103599000-103602800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:103599000-103604600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:103599400-103602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:103601800-103602000	Enhancers	Brain Hippocampus Middle	brain
32	chr8:103601800-103604000	Enhancers	Fetal Lung	lung
33	chr8:103602000-103602200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:103602000-103602600	Enhancers	Brain Anterior Caudate	brain
35	chr8:103602000-103603000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:103602000-103603200	Enhancers	Right Atrium	heart
37	chr8:103602200-103602600	Enhancers	Brain Angular Gyrus	brain
38	chr8:103602200-103602800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:103602200-103602800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:103602200-103602800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:103602200-103603200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:103602200-103603200	Enhancers	Left Ventricle	heart
43	chr8:103602200-103603200	Flanking Active TSS	K562	blood
44	chr8:103602200-103603400	Enhancers	Right Ventricle	heart
45	chr8:103602200-103603600	Enhancers	Fetal Heart	heart
46	chr8:103602400-103602800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:103602400-103602800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:103602400-103602800	Active TSS	Fetal Brain Male	brain
49	chr8:103602400-103603200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:103602400-103603200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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