Variant report

Variant	nsv7888
Chromosome Location	chr6:34615081-34622696
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	chr6:34614875..34617776-chr6:34618534..34620820,2	K562	blood:
2	chr6:34614875..34617776-chr6:34618534..34620820,2	K562	blood:
3	chr6:34615962..34618182-chr6:34622814..34624766,2	K562	blood:
4	chr6:34611223..34612801-chr6:34622555..34624943,2	K562	blood:
5	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:
6	chr6:34380846..34383756-chr6:34617372..34620116,2	K562	blood:
7	chr6:34618776..34621616-chr6:34625055..34627010,3	K562	blood:
8	chr6:34622560..34624840-chr6:34739559..34741975,2	K562	blood:
9	chr6:34618501..34621326-chr6:34629945..34632259,2	K562	blood:

No data

Extended variants
information (count: 306 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190524498	chr6:34615086-34615087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533339511	chr6:34615101-34615102	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142079548	chr6:34615131-34615132	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147346640	chr6:34615151-34615152	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527352608	chr6:34615170-34615171	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538166129	chr6:34615175-34615176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35401380	chr6:34615198-34615199	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377418785	chr6:34615217-34615218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371156320	chr6:34615236-34615237	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371566544	chr6:34615247-34615248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375026224	chr6:34615259-34615260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77962785	chr6:34615399-34615400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114041184	chr6:34615427-34615428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550099416	chr6:34615442-34615443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2814991	chr6:34615443-34615444	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs577956729	chr6:34615487-34615488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538442329	chr6:34615498-34615499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533976862	chr6:34615500-34615501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145278828	chr6:34615503-34615504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572160430	chr6:34615505-34615506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534256937	chr6:34615526-34615527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9469837	chr6:34615532-34615533	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs573693884	chr6:34615535-34615536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544239387	chr6:34615543-34615544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556424592	chr6:34615550-34615551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375555744	chr6:34615562-34615563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6921954	chr6:34615583-34615584	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560702480	chr6:34615624-34615625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183059031	chr6:34615713-34615714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542662417	chr6:34615715-34615716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561014109	chr6:34615720-34615721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531325211	chr6:34615728-34615729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573803777	chr6:34615744-34615745	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549839179	chr6:34615749-34615750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188350529	chr6:34615761-34615762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571282575	chr6:34615821-34615822	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73411971	chr6:34615822-34615823	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547382109	chr6:34615849-34615850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565819098	chr6:34615855-34615856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75878735	chr6:34615888-34615889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34153030	chr6:34615892-34615893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555430107	chr6:34615989-34615990	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140805316	chr6:34616004-34616005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193279232	chr6:34616066-34616067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185437744	chr6:34616068-34616069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577973023	chr6:34616313-34616314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149718875	chr6:34616317-34616318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3800461	chr6:34616322-34616323	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs145783572	chr6:34616325-34616326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543286104	chr6:34616333-34616334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34570800-34618800	Weak transcription	Brain Angular Gyrus	brain
2	chr6:34571000-34621400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:34575000-34618800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:34577400-34618600	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:34586000-34624200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:34587400-34624200	Weak transcription	Spleen	Spleen
9	chr6:34593000-34623600	Weak transcription	Colonic Mucosa	Colon
10	chr6:34598000-34620000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:34598800-34619200	Weak transcription	NH-A	brain
12	chr6:34598800-34623200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:34599400-34615200	Weak transcription	Left Ventricle	heart
14	chr6:34599400-34616200	Weak transcription	Psoas Muscle	Psoas
15	chr6:34599600-34618600	Weak transcription	HMEC	breast
16	chr6:34603600-34624000	Weak transcription	Brain Germinal Matrix	brain
17	chr6:34603600-34625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:34606400-34621800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:34607400-34619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:34607400-34622000	Weak transcription	NHDF-Ad	bronchial
21	chr6:34608800-34623400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:34609200-34615400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:34609600-34617200	Strong transcription	Primary T cells from cord blood	blood
24	chr6:34609800-34615400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:34610000-34617200	Strong transcription	HepG2	liver
26	chr6:34610000-34617400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:34610200-34615400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:34610200-34624000	Weak transcription	Brain Substantia Nigra	brain
29	chr6:34610400-34615800	Strong transcription	Fetal Intestine Small	intestine
30	chr6:34610400-34623200	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:34610800-34617000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:34611200-34617600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:34611800-34622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:34611800-34622600	Strong transcription	Primary B cells from peripheral blood	blood
35	chr6:34611800-34622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:34612000-34622600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:34612200-34619000	Strong transcription	K562	blood
38	chr6:34612400-34615200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:34612400-34615200	Genic enhancers	GM12878-XiMat	blood
40	chr6:34612400-34615400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:34612400-34618000	Strong transcription	Primary B cells from cord blood	blood
42	chr6:34612400-34625000	Weak transcription	Fetal Brain Male	brain
43	chr6:34613000-34621200	Weak transcription	HUVEC	blood vessel
44	chr6:34613000-34622000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:34613200-34615200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:34613200-34615600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr6:34613600-34618400	Weak transcription	Right Ventricle	heart
48	chr6:34613600-34621000	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:34613600-34624600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:34613600-34625000	Weak transcription	Esophagus	oesophagus

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