Variant report

Variant	nsv437482
Chromosome Location	chr6:27670917-27683572
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:14)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:
2	chr6:27661232..27663489-chr6:27678201..27680638,2	K562	blood:
3	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:
4	chr6:27677806..27681371-chr6:27682071..27685052,3	K562	blood:
5	chr6:27676729..27679149-chr6:27683111..27685492,2	K562	blood:
6	chr6:27683083..27685640-chr6:27686917..27688772,2	MCF-7	breast:
7	chr6:27670250..27673191-chr6:27723819..27726632,2	K562	blood:
8	chr6:27671590..27673866-chr6:27681015..27683164,2	K562	blood:
9	chr6:27669358..27671049-chr6:27700076..27702911,2	K562	blood:
10	chr6:27641336..27643543-chr6:27677360..27680125,2	K562	blood:
11	chr6:27661478..27663340-chr6:27680780..27682655,2	K562	blood:
12	chr6:27671590..27673866-chr6:27681015..27683164,2	K562	blood:
13	chr6:27676729..27679149-chr6:27683111..27685492,2	K562	blood:
14	chr6:27676712..27678626-chr6:27679096..27681049,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2AI-3	chr6:27680783-27681184	NONHSAT108397
2	lnc-HIST1H2AI-3	chr6:27675118-27675195	NONHSAT108395
3	lnc-HIST1H2AI-3	chr6:27674418-27674530	XLOC_005219
4	lnc-HIST1H2AI-3	chr6:27677903-27678001	NONHSAT108395
5	lnc-HIST1H2BL-2	chr6:27672903-27672947	NONHSAT108399
6	lnc-HIST1H2AI-3	chr6:27675118-27675276	NONHSAT108397
7	lnc-HIST1H2AI-2	chr6:27680783-27680876	XLOC_005220
8	lnc-HIST1H2BL-2	chr6:27680492-27681059	NONHSAT108399
9	lnc-HIST1H2AI-3	chr6:27677903-27678001	NONHSAT108394
10	lnc-HIST1H2BL-2	chr6:27672956-27673553	NONHSAT108399
11	lnc-HIST1H2AI-2	chr6:27678460-27678668	XLOC_005220
12	lnc-HIST1H2AI-2	chr6:27677989-27678004	XLOC_005220
13	lnc-HIST1H2BL-2	chr6:27674985-27675450	NONHSAT108399
14	lnc-HIST1H2AI-3	chr6:27678460-27678670	NONHSAT108397
15	lnc-HIST1H2AI-3	chr6:27674418-27676936	NONHSAT108398
16	lnc-HIST1H2AI-3	chr6:27674418-27676935	ENSG00000246046
17	lnc-HIST1H2AI-3	chr6:27674418-27676935	XLOC_005219

No data

Variant related genes	Relation type
TOP1	miRNA target sites
POLR2D	miRNA target sites

Extended variants
information (count: 458 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10484400	chr6:27670917-27670918	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371156496	chr6:27671001-27671002	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192001009	chr6:27671055-27671056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576626412	chr6:27671111-27671112	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540856459	chr6:27671123-27671124	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568980505	chr6:27671181-27671182	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531395567	chr6:27671219-27671220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548373372	chr6:27671248-27671249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114390593	chr6:27671271-27671272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534114481	chr6:27671277-27671278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114842791	chr6:27671293-27671294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183479920	chr6:27671344-27671345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186281424	chr6:27671359-27671360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141530832	chr6:27671435-27671436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575736043	chr6:27671445-27671446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77032218	chr6:27671457-27671458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555150221	chr6:27671460-27671461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146166039	chr6:27671479-27671480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140187308	chr6:27671590-27671591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149417812	chr6:27671598-27671599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576887096	chr6:27671603-27671604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6930169	chr6:27671657-27671658	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112219934	chr6:27671662-27671663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148550308	chr6:27671698-27671699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190211180	chr6:27671824-27671825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13192965	chr6:27671825-27671826	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs182800448	chr6:27671888-27671889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141491116	chr6:27671895-27671896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547265439	chr6:27671902-27671903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369670754	chr6:27671903-27671904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142888669	chr6:27671940-27671941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147266597	chr6:27671977-27671978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140760501	chr6:27671986-27671987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9366698	chr6:27672035-27672036	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs566287389	chr6:27672069-27672070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187252503	chr6:27672161-27672162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554831054	chr6:27672162-27672163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574962114	chr6:27672184-27672185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192588695	chr6:27672192-27672193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554495811	chr6:27672199-27672200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577621433	chr6:27672239-27672240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372435234	chr6:27672248-27672249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376462822	chr6:27672251-27672252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182608892	chr6:27672254-27672255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188863846	chr6:27672297-27672298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371566636	chr6:27672310-27672311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527478116	chr6:27672328-27672329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547232855	chr6:27672412-27672413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564002257	chr6:27672428-27672429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555254532	chr6:27672534-27672535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662400-27678000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:27662400-27680000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:27662400-27680400	Weak transcription	Spleen	Spleen
4	chr6:27662400-27680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:27662400-27684600	Weak transcription	Lung	lung
6	chr6:27662400-27685600	Weak transcription	Esophagus	oesophagus
7	chr6:27662600-27673200	Weak transcription	Fetal Stomach	stomach
8	chr6:27662600-27678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:27662600-27678600	Weak transcription	Primary B cells from cord blood	blood
10	chr6:27662600-27680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:27662600-27680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:27662600-27684000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:27662800-27671000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:27662800-27671200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:27662800-27672400	Weak transcription	Fetal Intestine Small	intestine
16	chr6:27662800-27678400	Weak transcription	Fetal Lung	lung
17	chr6:27662800-27678400	Weak transcription	Thymus	Thymus
18	chr6:27662800-27678600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:27662800-27684000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:27662800-27684800	Weak transcription	Fetal Kidney	kidney
21	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:27663000-27674600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:27663200-27671200	Weak transcription	Fetal Thymus	thymus
27	chr6:27663200-27673000	Weak transcription	GM12878-XiMat	blood
28	chr6:27663200-27674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:27663200-27676400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:27663200-27678200	Weak transcription	Brain Germinal Matrix	brain
31	chr6:27663200-27678200	Weak transcription	Fetal Brain Female	brain
32	chr6:27663200-27680800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:27663200-27682400	Weak transcription	Pancreas	Pancrea
34	chr6:27663200-27683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:27663200-27688400	Weak transcription	HMEC	breast
36	chr6:27663400-27678400	Weak transcription	Fetal Brain Male	brain
37	chr6:27663400-27678400	Weak transcription	K562	blood
38	chr6:27663400-27687800	Weak transcription	NHEK	skin
39	chr6:27664600-27684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:27668200-27684400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:27668800-27673000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr6:27668800-27673000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:27668800-27680400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:27669600-27675600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:27669600-27677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:27669800-27684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:27670000-27671800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr6:27670000-27672000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:27670000-27672000	Strong transcription	Ovary	ovary
50	chr6:27670000-27672000	Strong transcription	HepG2	liver

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