Variant report

Variant	nsv884127
Chromosome Location	chr6:30955681-30972121
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	chr6:30945892..30947709-chr6:30965242..30967995,2	K562	blood:
2	chr6:30956761..30958639-chr6:30968903..30970825,2	MCF-7	breast:
3	chr6:30967966..30971967-chr6:30974378..30977539,3	K562	blood:
4	chr6:30969067..30971818-chr6:30977942..30979590,2	K562	blood:
5	chr6:30966029..30968135-chr6:30974071..30975905,2	MCF-7	breast:
6	chr6:30951041..30953108-chr6:30955769..30958355,2	K562	blood:
7	chr6:30971805..30974320-chr6:30984460..30987060,2	K562	blood:
8	chr6:30956761..30958639-chr6:30968903..30970825,2	MCF-7	breast:
9	chr6:30949652..30953663-chr6:30954091..30959809,5	K562	blood:
10	chr6:30953051..30955055-chr6:30968288..30971008,2	K562	blood:
11	chr6:30944607..30947300-chr6:30955990..30958422,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204544	chromatin interactions
ENSG00000261272	chromatin interactions

Extended variants
information (count: 696 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1634731	chr6:30955681-30955682	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530465530	chr6:30955702-30955703	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs45565239	chr6:30955717-30955718	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371324624	chr6:30955727-30955728	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376626562	chr6:30955733-30955734	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558351690	chr6:30955738-30955739	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528237312	chr6:30955786-30955787	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546487324	chr6:30955836-30955837	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532785678	chr6:30955841-30955842	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568295420	chr6:30955884-30955885	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529169210	chr6:30955892-30955893	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2517416	chr6:30955929-30955930	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs138986172	chr6:30955980-30955981	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142117997	chr6:30956018-30956019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561734684	chr6:30956075-30956076	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2844676	chr6:30956215-30956216	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs534351762	chr6:30956273-30956274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146403590	chr6:30956291-30956292	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574222783	chr6:30956351-30956352	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139739988	chr6:30956368-30956369	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556852287	chr6:30956370-30956371	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149672097	chr6:30956374-30956375	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545409688	chr6:30956397-30956398	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563797122	chr6:30956437-30956438	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370245971	chr6:30956560-30956561	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181341505	chr6:30956569-30956570	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544127491	chr6:30956581-30956582	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572607524	chr6:30956653-30956654	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562425508	chr6:30956674-30956675	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185901584	chr6:30956681-30956682	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372162867	chr6:30956721-30956722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561721675	chr6:30956730-30956731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529118005	chr6:30956777-30956778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2517415	chr6:30956779-30956780	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs562794857	chr6:30956780-30956781	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533333978	chr6:30956781-30956782	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190544476	chr6:30956829-30956830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551183109	chr6:30956840-30956841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199525234	chr6:30956873-30956874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566280675	chr6:30956877-30956878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76968299	chr6:30956879-30956880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566924021	chr6:30956912-30956913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562483772	chr6:30956922-30956923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528593446	chr6:30956974-30956975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148400741	chr6:30957049-30957050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546767272	chr6:30957050-30957051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142588751	chr6:30957084-30957085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540012543	chr6:30957119-30957120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150951922	chr6:30957139-30957140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556543556	chr6:30957145-30957146	Weak transcription Enhancers	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:102 , 50 per page) page: 1 2 3

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	chr6:30950800-30955800	Active TSS	Esophagus	oesophagus
4	chr6:30950800-30958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:30950800-30972200	Weak transcription	Right Atrium	heart
6	chr6:30951400-30956800	Weak transcription	Gastric	stomach
7	chr6:30951600-30955800	Weak transcription	Stomach Mucosa	stomach
8	chr6:30955800-30956000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr6:30955800-30956000	Bivalent Enhancer	Placenta	Placenta
10	chr6:30955800-30956600	Enhancers	Stomach Mucosa	stomach
11	chr6:30955800-30958600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:30955800-30964400	Weak transcription	Esophagus	oesophagus
13	chr6:30956600-30956800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:30956800-30957000	Enhancers	Gastric	stomach
15	chr6:30956800-30964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:30957000-30957400	Weak transcription	Gastric	stomach
17	chr6:30957800-30958200	Enhancers	GM12878-XiMat	blood
18	chr6:30957800-30959000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:30957800-30959000	Enhancers	Fetal Thymus	thymus
20	chr6:30958000-30958200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:30958000-30958200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr6:30958000-30958200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr6:30958000-30958200	Enhancers	Dnd41	blood
24	chr6:30958000-30958400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr6:30958000-30958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:30958000-30958600	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:30958000-30958800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:30958000-30958800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr6:30958000-30959000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:30958200-30958400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr6:30958200-30958400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:30958200-30958400	Active TSS	Duodenum Mucosa	Duodenum
33	chr6:30958200-30958400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr6:30958200-30958600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:30958200-30958600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr6:30958200-30958600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:30958200-30958600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:30958200-30958600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr6:30958200-30958600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:30958200-30958600	Flanking Active TSS	Dnd41	blood
41	chr6:30958200-30958800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:30958200-30958800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:30958200-30958800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:30958200-30958800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:30958200-30958800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:30958200-30958800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:30958200-30958800	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:30958200-30959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:30958400-30958600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:30958400-30958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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