Variant report

Variant	nsv527079
Chromosome Location	chr6:33927311-33944014
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33928847..33930667-chr6:33930699..33932351,2	K562	blood:
2	chr6:33928175..33930963-chr6:33993122..33995355,2	MCF-7	breast:
3	chr6:33925599..33928278-chr6:33928837..33930807,2	K562	blood:
4	chr6:33927135..33929143-chr6:33944981..33947651,2	MCF-7	breast:
5	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:
6	chr6:33819352..33820057-chr6:33935715..33936362,3	MCF-7	breast:
7	chr6:33925599..33928278-chr6:33928837..33930807,2	K562	blood:
8	chr6:33928944..33932796-chr6:33933214..33936694,5	K562	blood:
9	chr6:33928847..33930667-chr6:33930699..33932351,2	K562	blood:
10	chr6:33819661..33820304-chr6:33935521..33936307,2	MCF-7	breast:
11	chr6:33928944..33932796-chr6:33933214..33936694,5	K562	blood:
12	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:
13	chr6:33933752..33935770-chr6:33949390..33952772,4	MCF-7	breast:
14	chr6:33935782..33936335-chr6:33955656..33956622,2	MCF-7	breast:
15	chr6:33916864..33919171-chr6:33930801..33933029,2	MCF-7	breast:
16	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:
17	chr6:33935685..33937732-chr6:33955927..33958373,2	MCF-7	breast:
18	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
19	chr6:33935283..33936415-chr6:33994982..33996031,6	MCF-7	breast:
20	chr6:33935558..33936417-chr6:34023156..34023663,2	K562	blood:
21	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:
22	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
23	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:
24	chr6:33919883..33922480-chr6:33924256..33927487,4	MCF-7	breast:
25	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:
26	chr6:33942809..33944696-chr6:33949318..33951158,2	MCF-7	breast:

No data

Extended variants
information (count: 656 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:656 , 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	rs10456425	chr6:33927311-33927312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564935746	chr6:33927336-33927337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34850934	chr6:33927337-33927338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555552894	chr6:33927340-33927341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531983526	chr6:33927374-33927375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545951060	chr6:33927390-33927391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2495969	chr6:33927408-33927409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556455804	chr6:33927432-33927433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575527670	chr6:33927461-33927462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546219961	chr6:33927481-33927482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372179233	chr6:33927497-33927498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370602218	chr6:33927579-33927580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71567413	chr6:33927592-33927593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578247456	chr6:33927600-33927601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs115185846	chr6:33927608-33927609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs35760341	chr6:33927624-33927625	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs182984736	chr6:33927651-33927652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs527962632	chr6:33927665-33927666	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs561913960	chr6:33927666-33927667	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs549579000	chr6:33927715-33927716	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs369489827	chr6:33927735-33927736	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs550973350	chr6:33927756-33927757	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs569578359	chr6:33927776-33927777	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs373214622	chr6:33927777-33927778	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs9368788	chr6:33927811-33927812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187884763	chr6:33927877-33927878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566476630	chr6:33927929-33927930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191932155	chr6:33927937-33927938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182994060	chr6:33927938-33927939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72886982	chr6:33927961-33927962	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571723723	chr6:33927981-33927982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567452969	chr6:33928010-33928011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs538072992	chr6:33928044-33928045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs556176232	chr6:33928051-33928052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs368628376	chr6:33928156-33928157	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs73402416	chr6:33928185-33928186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544978955	chr6:33928186-33928187	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs558106353	chr6:33928202-33928203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554177000	chr6:33928231-33928232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9380391	chr6:33928247-33928248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2499755	chr6:33928280-33928281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561877198	chr6:33928303-33928304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2495970	chr6:33928390-33928391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs9380392	chr6:33928435-33928436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9380393	chr6:33928477-33928478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144055499	chr6:33928478-33928479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147326856	chr6:33928507-33928508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566440271	chr6:33928511-33928512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115129910	chr6:33928538-33928539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148762956	chr6:33928539-33928540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33924600-33927800	Enhancers	Fetal Brain Female	brain
2	chr6:33924800-33930000	Enhancers	Fetal Brain Male	brain
3	chr6:33925200-33927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:33925200-33928600	Enhancers	Brain Germinal Matrix	brain
5	chr6:33926000-33931400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:33926000-33931600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:33926200-33930000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:33926400-33927600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:33926400-33931000	Enhancers	NHEK	skin
10	chr6:33927000-33928600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:33927000-33929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:33927000-33942400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33927200-33930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:33927600-33927800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:33927600-33927800	Bivalent Enhancer	Placenta	Placenta
16	chr6:33927600-33929000	Enhancers	Esophagus	oesophagus
17	chr6:33927600-33931000	Enhancers	HMEC	breast
18	chr6:33927800-33928600	Weak transcription	Fetal Brain Female	brain
19	chr6:33928000-33928200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:33928000-33928200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:33928200-33928600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:33928200-33929800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:33928400-33928800	Enhancers	Left Ventricle	heart
24	chr6:33928400-33929000	Enhancers	Right Ventricle	heart
25	chr6:33928600-33928800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:33928600-33928800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr6:33928600-33928800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:33928600-33928800	Enhancers	Fetal Brain Female	brain
29	chr6:33928600-33929600	Weak transcription	Brain Germinal Matrix	brain
30	chr6:33928800-33930000	Weak transcription	Fetal Brain Female	brain
31	chr6:33929000-33929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:33929000-33929400	Weak transcription	Esophagus	oesophagus
33	chr6:33929200-33929600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr6:33929400-33930000	Enhancers	Esophagus	oesophagus
35	chr6:33929400-33931200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:33929600-33930600	Enhancers	NHDF-Ad	bronchial
37	chr6:33929600-33931000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:33929600-33931000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:33929600-33931000	Enhancers	Fetal Stomach	stomach
40	chr6:33929600-33931200	Enhancers	Brain Germinal Matrix	brain
41	chr6:33929800-33930400	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:33929800-33930600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr6:33929800-33930600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr6:33929800-33930600	Enhancers	Fetal Lung	lung
45	chr6:33930000-33930200	Enhancers	Fetal Brain Female	brain
46	chr6:33930000-33930400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:33930000-33930400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:33930000-33930600	Enhancers	Colon Smooth Muscle	Colon
49	chr6:33930000-33931000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:33930200-33930600	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links