Variant report

Variant	nsv970087
Chromosome Location	chr6:26392332-26397363
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26395454..26397277-chr6:26501383..26504153,2	K562	blood:
2	chr6:26393793..26397119-chr6:26397996..26400964,7	K562	blood:
3	chr6:26158092..26160722-chr6:26391626..26394367,2	MCF-7	breast:
4	chr6:26394732..26396877-chr6:26400562..26403054,2	MCF-7	breast:
5	chr6:26395411..26398038-chr6:26426386..26428479,2	K562	blood:
6	chr6:26390542..26392521-chr6:26396863..26399641,3	K562	blood:
7	chr6:26390334..26392111-chr6:26392874..26394423,2	K562	blood:
8	chr6:26392331..26394717-chr6:26410303..26413058,2	K562	blood:
9	chr6:26391021..26393717-chr6:26396965..26399290,2	K562	blood:
10	chr6:26389060..26391838-chr6:26394516..26396204,2	K562	blood:
11	chr6:26390542..26392521-chr6:26396863..26399641,3	K562	blood:
12	chr6:26390074..26392884-chr6:26401508..26403224,2	K562	blood:
13	chr6:26385648..26389626-chr6:26390686..26394827,7	K562	blood:
14	chr6:26393733..26396170-chr6:26401086..26404245,3	K562	blood:
15	chr6:26388663..26391163-chr6:26392744..26394654,2	MCF-7	breast:
16	chr6:26391021..26393717-chr6:26396965..26399290,2	K562	blood:
17	chr6:26397216..26399740-chr6:26407400..26409263,3	K562	blood:
18	chr6:26384661..26390027-chr6:26390440..26394308,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124557	chromatin interactions
ENSG00000124508	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000026950	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539438459	chr6:26392332-26392333	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555690917	chr6:26392333-26392334	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565126147	chr6:26392376-26392377	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200178127	chr6:26392381-26392382	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575739288	chr6:26392383-26392384	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577313205	chr6:26392411-26392412	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111318670	chr6:26392421-26392422	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs541166925	chr6:26392425-26392426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374156386	chr6:26392439-26392440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555586233	chr6:26392460-26392461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs114402470	chr6:26392488-26392489	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191843070	chr6:26392489-26392490	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564816540	chr6:26392505-26392506	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2072803	chr6:26392515-26392516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183676835	chr6:26392562-26392563	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543802754	chr6:26392595-26392596	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs147646031	chr6:26392603-26392604	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142151655	chr6:26392607-26392608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368319822	chr6:26392613-26392614	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs148323426	chr6:26392628-26392629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142803339	chr6:26392629-26392630	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150431575	chr6:26392634-26392635	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370826490	chr6:26392637-26392638	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138172438	chr6:26392638-26392639	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374005579	chr6:26392659-26392660	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs200473019	chr6:26392660-26392661	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112054667	chr6:26392666-26392667	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372706575	chr6:26392668-26392669	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368149710	chr6:26392685-26392686	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200468059	chr6:26392719-26392720	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200546581	chr6:26392741-26392742	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375971811	chr6:26392754-26392755	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs374942833	chr6:26392756-26392757	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs200047445	chr6:26392757-26392758	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs142785600	chr6:26392768-26392769	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs34248025	chr6:26392773-26392774	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs555778902	chr6:26392788-26392789	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs146142561	chr6:26392793-26392794	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs372254650	chr6:26392794-26392795	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs140196606	chr6:26392799-26392800	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs149403458	chr6:26392801-26392802	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs572011185	chr6:26392813-26392814	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs181793664	chr6:26392814-26392815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs202000782	chr6:26392820-26392821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs148562624	chr6:26392824-26392825	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs369578278	chr6:26392881-26392882	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs62617840	chr6:26392905-26392906	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs199832316	chr6:26392911-26392912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114760306	chr6:26392917-26392918	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139419531	chr6:26392925-26392926	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Multiple myeloma	17550852	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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	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
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Autism	22495309	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26384200-26393000	Weak transcription	Fetal Brain Female	brain
2	chr6:26384200-26393200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:26384200-26394600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:26384200-26394600	Weak transcription	Right Atrium	heart
5	chr6:26384200-26400800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:26384200-26400800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:26384200-26401000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:26384200-26401400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:26384200-26402000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:26384200-26402400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:26384200-26402400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:26384200-26402400	Weak transcription	Pancreas	Pancrea
13	chr6:26384400-26394200	Weak transcription	HUVEC	blood vessel
14	chr6:26384400-26401400	Weak transcription	Brain Angular Gyrus	brain
15	chr6:26384400-26402000	Weak transcription	Fetal Kidney	kidney
16	chr6:26384600-26394400	Weak transcription	Fetal Intestine Large	intestine
17	chr6:26384600-26394400	Weak transcription	NHDF-Ad	bronchial
18	chr6:26384600-26394600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:26384600-26400800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:26384600-26401800	Weak transcription	Fetal Lung	lung
21	chr6:26385200-26394600	Weak transcription	Brain Germinal Matrix	brain
22	chr6:26385200-26401000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:26385200-26401400	Weak transcription	Brain Substantia Nigra	brain
24	chr6:26385200-26401800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:26385400-26400800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:26385800-26402000	Weak transcription	Colonic Mucosa	Colon
27	chr6:26387000-26394600	Weak transcription	Small Intestine	intestine
28	chr6:26387800-26393400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:26388000-26392800	Strong transcription	Fetal Muscle Leg	muscle
30	chr6:26388000-26393800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:26388000-26394200	Strong transcription	Fetal Stomach	stomach
32	chr6:26388200-26392600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:26388200-26393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:26388200-26393400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:26388200-26393400	Strong transcription	Fetal Intestine Small	intestine
36	chr6:26388200-26393800	Strong transcription	Primary T cells from cord blood	blood
37	chr6:26388200-26393800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr6:26388200-26393800	Strong transcription	Dnd41	blood
39	chr6:26388200-26402000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:26388400-26393200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:26388400-26395000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:26388600-26393000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:26388600-26393800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:26388800-26392400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:26388800-26393400	Weak transcription	HSMM	muscle
46	chr6:26388800-26394200	Weak transcription	A549	lung
47	chr6:26388800-26401800	Weak transcription	Placenta	Placenta
48	chr6:26389000-26393400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:26389000-26393600	Weak transcription	HMEC	breast
50	chr6:26389000-26396800	Weak transcription	Placenta Amnion	Placenta Amnion

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