Variant report

Variant	nsv884128
Chromosome Location	chr6:30957766-30972121
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30966029..30968135-chr6:30974071..30975905,2	MCF-7	breast:
2	chr6:30969067..30971818-chr6:30977942..30979590,2	K562	blood:
3	chr6:30967966..30971967-chr6:30974378..30977539,3	K562	blood:
4	chr6:30949652..30953663-chr6:30954091..30959809,5	K562	blood:
5	chr6:30953051..30955055-chr6:30968288..30971008,2	K562	blood:
6	chr6:30971805..30974320-chr6:30984460..30987060,2	K562	blood:
7	chr6:30945892..30947709-chr6:30965242..30967995,2	K562	blood:
8	chr6:30956761..30958639-chr6:30968903..30970825,2	MCF-7	breast:
9	chr6:30956761..30958639-chr6:30968903..30970825,2	MCF-7	breast:
10	chr6:30951041..30953108-chr6:30955769..30958355,2	K562	blood:
11	chr6:30944607..30947300-chr6:30955990..30958422,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261272	chromatin interactions
ENSG00000204544	chromatin interactions

Extended variants
information (count: 628 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3873342	chr6:30957766-30957767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144376271	chr6:30957827-30957828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554075807	chr6:30957839-30957840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117920452	chr6:30957912-30957913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533804701	chr6:30957917-30957918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141391387	chr6:30957938-30957939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573692321	chr6:30957942-30957943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182754423	chr6:30957944-30957945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562116628	chr6:30957963-30957964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556393547	chr6:30958014-30958015	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577953203	chr6:30958017-30958018	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116346577	chr6:30958103-30958104	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2249168	chr6:30958254-30958255	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527649585	chr6:30958258-30958259	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150405643	chr6:30958281-30958282	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112579586	chr6:30958333-30958334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138173427	chr6:30958334-30958335	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561177684	chr6:30958351-30958352	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149136965	chr6:30958409-30958410	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113996288	chr6:30958422-30958423	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75967874	chr6:30958443-30958444	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527489852	chr6:30958459-30958460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571490087	chr6:30958469-30958470	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540475456	chr6:30958490-30958491	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2530695	chr6:30958494-30958495	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs368477191	chr6:30958509-30958510	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs117093916	chr6:30958562-30958563	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562028345	chr6:30958640-30958641	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533515345	chr6:30958675-30958676	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116164564	chr6:30958705-30958706	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs551019453	chr6:30958708-30958709	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371048880	chr6:30958713-30958714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114332062	chr6:30958769-30958770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143303030	chr6:30958781-30958782	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186447048	chr6:30958818-30958819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554066452	chr6:30958844-30958845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537603860	chr6:30958848-30958849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375261177	chr6:30958850-30958851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373599643	chr6:30958903-30958904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572306136	chr6:30958921-30958922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542599809	chr6:30958976-30958977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138856752	chr6:30958985-30958986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56227901	chr6:30958986-30958987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2517412	chr6:30958987-30958988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114629216	chr6:30958991-30958992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13211972	chr6:30959001-30959002	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191233471	chr6:30959012-30959013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2530694	chr6:30959014-30959015	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530419291	chr6:30959099-30959100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113867436	chr6:30959117-30959118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30950400-30958200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30950600-30958200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:30950800-30958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:30950800-30972200	Weak transcription	Right Atrium	heart
5	chr6:30955800-30958600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:30955800-30964400	Weak transcription	Esophagus	oesophagus
7	chr6:30956800-30964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:30957800-30958200	Enhancers	GM12878-XiMat	blood
9	chr6:30957800-30959000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:30957800-30959000	Enhancers	Fetal Thymus	thymus
11	chr6:30958000-30958200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:30958000-30958200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:30958000-30958200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:30958000-30958200	Enhancers	Dnd41	blood
15	chr6:30958000-30958400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr6:30958000-30958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:30958000-30958600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:30958000-30958800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:30958000-30958800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:30958000-30959000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:30958200-30958400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr6:30958200-30958400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:30958200-30958400	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:30958200-30958400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr6:30958200-30958600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:30958200-30958600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr6:30958200-30958600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr6:30958200-30958600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:30958200-30958600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr6:30958200-30958600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:30958200-30958600	Flanking Active TSS	Dnd41	blood
32	chr6:30958200-30958800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:30958200-30958800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:30958200-30958800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:30958200-30958800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr6:30958200-30958800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30958200-30958800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:30958200-30958800	Flanking Active TSS	GM12878-XiMat	blood
39	chr6:30958200-30959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:30958400-30958600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr6:30958400-30958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:30958400-30958600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr6:30958400-30958600	Flanking Active TSS	Thymus	Thymus
44	chr6:30958400-30958800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:30958400-30958800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:30958400-30958800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:30958400-30958800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:30958400-30958800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:30958600-30958800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr6:30958600-30958800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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