Variant report

Variant	nsv981053
Chromosome Location	chr6:29816713-29819143
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:156186344..156186990-chr6:29817437..29817949,3	MCF-7	breast:
2	chr1:156186327..156187016-chr6:29817417..29817938,4	MCF-7	breast:
3	chr20:26189787..26191477-chr6:29817931..29819451,2	MCF-7	breast:
4	chr6:29814850..29816996-chr6:29980272..29982111,2	MCF-7	breast:
5	chr1:156186259..156187021-chr6:29817417..29817937,4	MCF-7	breast:
6	chr21:9826240..9826974-chr6:29817929..29818437,2	MCF-7	breast:
7	chr6:29815484..29816856-chr6:30098503..30099361,8	K562	blood:
8	chr1:156186248..156187894-chr6:29816418..29817920,2	MCF-7	breast:
9	chr1:156186395..156187016-chr6:29817417..29817931,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227195	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11758834	chr6:29816809-29816810	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559278765	chr6:29816887-29816888	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs41316442	chr6:29816893-29816894	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115020341	chr6:29816917-29816918	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564680886	chr6:29816920-29816921	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533520030	chr6:29816924-29816925	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374755497	chr6:29816999-29817000	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28764567	chr6:29817011-29817012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs28764571	chr6:29817025-29817026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372677937	chr6:29817032-29817033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28764579	chr6:29817042-29817043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs41317456	chr6:29817077-29817078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56271566	chr6:29817086-29817087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2523765	chr6:29817106-29817107	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs113846945	chr6:29817115-29817116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28764613	chr6:29817123-29817124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28764628	chr6:29817153-29817154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28764637	chr6:29817176-29817177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573880535	chr6:29817207-29817208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536518227	chr6:29817221-29817222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9380146	chr6:29817244-29817245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs62392523	chr6:29817253-29817254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374778078	chr6:29817266-29817267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72843700	chr6:29817279-29817280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs62392524	chr6:29817288-29817289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs72845903	chr6:29817322-29817323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28764720	chr6:29817446-29817447	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs28764750	chr6:29817523-29817524	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs28764753	chr6:29817526-29817527	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72845906	chr6:29817532-29817533	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528510533	chr6:29817543-29817544	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs367586819	chr6:29817564-29817565	Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2523764	chr6:29817617-29817618	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs571438432	chr6:29817628-29817629	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs530890927	chr6:29817648-29817649	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs28728777	chr6:29817692-29817693	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200976738	chr6:29817735-29817736	Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs190891096	chr6:29817801-29817802	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs201624552	chr6:29817830-29817831	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs28728839	chr6:29817834-29817835	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs28728843	chr6:29817844-29817845	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28728851	chr6:29817859-29817860	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs73747778	chr6:29817878-29817879	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs386698490	chr6:29817896-29817897	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs28728869	chr6:29817898-29817899	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11759549	chr6:29817923-29817924	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs72845909	chr6:29817938-29817939	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2734988	chr6:29817995-29817996	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs3094178	chr6:29818000-29818001	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9258567	chr6:29818004-29818005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29815800-29817800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29816200-29817000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chr6:29816200-29818000	Weak transcription	Gastric	stomach
4	chr6:29816600-29816800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr6:29816600-29818000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:29816800-29818000	Weak transcription	Esophagus	oesophagus
7	chr6:29817400-29817600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr6:29817400-29817600	Bivalent/Poised TSS	Right Ventricle	heart
9	chr6:29817400-29818000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr6:29817400-29818400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr6:29817600-29817800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:29817600-29818000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr6:29817600-29818000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:29817600-29818000	Active TSS	Right Ventricle	heart
15	chr6:29817600-29818200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr6:29817800-29818000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:29817800-29818000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr6:29817800-29818000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr6:29817800-29818000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:29817800-29818000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:29817800-29818000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr6:29817800-29818000	Bivalent Enhancer	Fetal Brain Male	brain
23	chr6:29817800-29818000	Weak transcription	Pancreas	Pancrea
24	chr6:29817800-29818000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr6:29817800-29818000	Active TSS	Right Atrium	heart
26	chr6:29817800-29818000	Active TSS	HMEC	breast
27	chr6:29817800-29818000	Bivalent/Poised TSS	Osteobl	bone
28	chr6:29817800-29818200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:29817800-29818200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:29817800-29818200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr6:29817800-29818200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:29817800-29818200	Bivalent Enhancer	Liver	Liver
33	chr6:29817800-29818200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:29817800-29818200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr6:29817800-29818200	Bivalent/Poised TSS	NHDF-Ad	bronchial
36	chr6:29817800-29818200	Bivalent/Poised TSS	NHLF	lung
37	chr6:29817800-29818400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:29817800-29818400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:29817800-29818400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:29817800-29818400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr6:29817800-29818400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr6:29817800-29818400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr6:29817800-29818400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr6:29817800-29818400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:29817800-29818400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:29817800-29818400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:29817800-29818400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:29817800-29818400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:29817800-29818400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:29817800-29818400	Bivalent/Poised TSS	NHEK	skin

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