Variant report

Variant	nsv397060
Chromosome Location	chr8:127836884-127837419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:127836927..127839136-chr8:127848377..127851052,2	K562	blood:
2	chr8:127836631..127837289-chr8:127881392..127882026,2	MCF-7	breast:
3	chr8:127834592..127842945-chr8:128745185..128752445,14	MCF-7	breast:
4	chr8:127836311..127837281-chr8:127888680..127889401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249375	chromatin interactions
ENSG00000136997	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557569841	chr8:127836914-127836915	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201916899	chr8:127836925-127836926	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs57588856	chr8:127836926-127836927	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs398096133	chr8:127836928-127836929	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150921660	chr8:127836946-127836947	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77287339	chr8:127836969-127836970	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140788028	chr8:127836981-127836982	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149680320	chr8:127837010-127837011	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542133310	chr8:127837026-127837027	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144742529	chr8:127837032-127837033	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs16901727	chr8:127837072-127837073	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531016427	chr8:127837076-127837077	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145356785	chr8:127837087-127837088	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564417321	chr8:127837108-127837109	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs386729760	chr8:127837110-127837111	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1873186	chr8:127837111-127837112	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1873187	chr8:127837139-127837140	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs182245121	chr8:127837141-127837142	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549014752	chr8:127837165-127837166	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141370648	chr8:127837173-127837174	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs16901728	chr8:127837216-127837217	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557972917	chr8:127837223-127837224	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571239081	chr8:127837251-127837252	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145098376	chr8:127837252-127837253	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533662990	chr8:127837253-127837254	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35588844	chr8:127837292-127837293	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs67989565	chr8:127837325-127837326	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs57569358	chr8:127837326-127837327	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60087888	chr8:127837337-127837338	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs59903817	chr8:127837343-127837344	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139034883	chr8:127837345-127837346	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs140699670	chr8:127837370-127837371	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368668864	chr8:127837384-127837385	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs66947114	chr8:127837418-127837419	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561664195	chr8:127837419-127837420	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:156)

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
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
Acute myeloid leukemia	20729466	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
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
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	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
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Gastric cancer	21635755	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127827000-127837200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:127833200-127837000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:127833600-127839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:127833800-127837000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:127833800-127837000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:127836400-127837000	Enhancers	Fetal Heart	heart
7	chr8:127836400-127837000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:127836400-127837000	Active TSS	K562	blood
9	chr8:127836400-127837000	Enhancers	NHLF	lung
10	chr8:127836600-127837000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:127836600-127837000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:127836600-127837400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:127836600-127837400	Active TSS	Colon Smooth Muscle	Colon
14	chr8:127836600-127837400	Enhancers	Dnd41	blood
15	chr8:127836600-127837400	Flanking Active TSS	Hela-S3	cervix
16	chr8:127836800-127837000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:127836800-127837000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:127836800-127837000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:127836800-127837000	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr8:127836800-127837000	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:127836800-127837000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr8:127836800-127837000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:127836800-127837000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:127836800-127837000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:127836800-127837000	Active TSS	Adipose Nuclei	Adipose
26	chr8:127836800-127837000	Active TSS	Brain Germinal Matrix	brain
27	chr8:127836800-127837000	Active TSS	Duodenum Mucosa	Duodenum
28	chr8:127836800-127837000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr8:127836800-127837000	Active TSS	Fetal Brain Female	brain
30	chr8:127836800-127837000	Active TSS	Fetal Kidney	kidney
31	chr8:127836800-127837000	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr8:127836800-127837200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:127836800-127837200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr8:127836800-127837200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:127836800-127837200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:127836800-127837200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:127836800-127837200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:127836800-127837200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:127836800-127837200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:127836800-127837200	Active TSS	Brain Angular Gyrus	brain
41	chr8:127836800-127837200	Active TSS	Fetal Intestine Small	intestine
42	chr8:127836800-127837200	Active TSS	Fetal Muscle Trunk	muscle
43	chr8:127836800-127837200	Active TSS	Fetal Muscle Leg	muscle
44	chr8:127836800-127837200	Active TSS	Fetal Stomach	stomach
45	chr8:127836800-127837200	Active TSS	Left Ventricle	heart
46	chr8:127836800-127837200	Active TSS	Ovary	ovary
47	chr8:127836800-127837200	Active TSS	A549	lung
48	chr8:127836800-127837200	Active TSS	HSMM	muscle
49	chr8:127836800-127837200	Flanking Active TSS	HSMMtube	muscle
50	chr8:127836800-127837200	Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links