Variant report

Variant	nsv396957
Chromosome Location	chr8:102598319-102604328
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	chr8:102598688..102600794-chr8:102642302..102645052,2	MCF-7	breast:
2	chr8:102599405..102601179-chr8:102618530..102620423,2	MCF-7	breast:
3	chr8:102595035..102599988-chr8:102610070..102614354,7	MCF-7	breast:
4	chr8:102599624..102601949-chr8:102615535..102617652,3	MCF-7	breast:
5	chr8:102375493..102378356-chr8:102595970..102598513,2	MCF-7	breast:
6	chr8:102593460..102597757-chr8:102598202..102602881,7	MCF-7	breast:
7	chr8:102504593..102507266-chr8:102598553..102601179,3	MCF-7	breast:
8	chr8:102584397..102586462-chr8:102595922..102598854,2	MCF-7	breast:
9	chr8:102503060..102507030-chr8:102601716..102605768,5	MCF-7	breast:
10	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
11	chr8:102503587..102506004-chr8:102600065..102605597,5	MCF-7	breast:
12	chr8:102595468..102600144-chr8:102610576..102613880,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083307	chromatin interactions
ENSG00000254024	chromatin interactions

Extended variants
information (count: 229 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:229 , 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	rs551145819	chr8:102598331-102598332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369626720	chr8:102598332-102598333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569543174	chr8:102598356-102598357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180765179	chr8:102598357-102598358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549253501	chr8:102598366-102598367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567760381	chr8:102598408-102598409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs634588	chr8:102598412-102598413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571088035	chr8:102598424-102598425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539456131	chr8:102598451-102598452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35526650	chr8:102598492-102598493	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566747113	chr8:102598493-102598494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143213968	chr8:102598536-102598537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184968921	chr8:102598546-102598547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539372991	chr8:102598630-102598631	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115705431	chr8:102598658-102598659	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113074157	chr8:102598693-102598694	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs190171226	chr8:102598700-102598701	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535996988	chr8:102598701-102598702	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183112041	chr8:102598719-102598720	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs118065034	chr8:102598766-102598767	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186961485	chr8:102598810-102598811	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572758795	chr8:102598835-102598836	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs540636560	chr8:102598859-102598860	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558958723	chr8:102598882-102598883	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs577494318	chr8:102598941-102598942	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191796100	chr8:102598951-102598952	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555883747	chr8:102598959-102598960	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184038521	chr8:102598988-102598989	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116206688	chr8:102599036-102599037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574716402	chr8:102599110-102599111	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561195825	chr8:102599142-102599143	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187806067	chr8:102599165-102599166	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs17477457	chr8:102599197-102599198	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115676761	chr8:102599228-102599229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539336561	chr8:102599290-102599291	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551336728	chr8:102599304-102599305	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557308535	chr8:102599369-102599370	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569579443	chr8:102599370-102599371	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560667	chr8:102599384-102599385	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142335998	chr8:102599387-102599388	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75520939	chr8:102599407-102599408	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs534743693	chr8:102599416-102599417	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146432332	chr8:102599419-102599420	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577262141	chr8:102599493-102599494	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544616635	chr8:102599538-102599539	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572733065	chr8:102599547-102599548	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192419014	chr8:102599596-102599597	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139115928	chr8:102599601-102599602	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs35900484	chr8:102599635-102599636	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143132634	chr8:102599640-102599641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102589200-102599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:102589600-102599800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:102590400-102603400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:102590600-102598600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:102592000-102611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:102593000-102598800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:102593800-102598600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:102594000-102599600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:102594000-102603000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:102594000-102611600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:102594200-102599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:102594200-102601000	Weak transcription	HMEC	breast
16	chr8:102594200-102603800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:102594200-102612000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:102594600-102603600	Weak transcription	Placenta	Placenta
19	chr8:102595800-102598800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:102595800-102600200	Weak transcription	NHEK	skin
21	chr8:102595800-102605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:102596000-102615000	Weak transcription	Stomach Mucosa	stomach
23	chr8:102596400-102601400	Weak transcription	Fetal Kidney	kidney
24	chr8:102596800-102599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:102597000-102598400	Strong transcription	Fetal Intestine Small	intestine
26	chr8:102597200-102600400	Weak transcription	A549	lung
27	chr8:102597400-102598600	Weak transcription	Liver	Liver
28	chr8:102597400-102598600	Weak transcription	Left Ventricle	heart
29	chr8:102597400-102598800	Weak transcription	Fetal Lung	lung
30	chr8:102597400-102600400	Weak transcription	Fetal Brain Female	brain
31	chr8:102597400-102602200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:102597400-102603400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:102597400-102603600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:102597400-102604200	Weak transcription	Esophagus	oesophagus
35	chr8:102597400-102606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:102597400-102616000	Weak transcription	Gastric	stomach
37	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
38	chr8:102597600-102598600	Weak transcription	Fetal Brain Male	brain
39	chr8:102597800-102598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:102597800-102598600	Weak transcription	Pancreas	Pancrea
41	chr8:102597800-102601800	Enhancers	Fetal Heart	heart
42	chr8:102598400-102599400	Weak transcription	Fetal Intestine Small	intestine
43	chr8:102598600-102598800	Enhancers	Left Ventricle	heart
44	chr8:102598600-102599000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:102598600-102599000	Enhancers	Fetal Brain Male	brain
46	chr8:102598600-102599000	Enhancers	Pancreas	Pancrea
47	chr8:102598600-102599200	Enhancers	Rectal Smooth Muscle	rectum
48	chr8:102598600-102599600	Enhancers	Liver	Liver
49	chr8:102598600-102601400	Enhancers	Colon Smooth Muscle	Colon
50	chr8:102598800-102599200	Enhancers	Placenta Amnion	Placenta Amnion

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