Variant report

Variant	nsv884470
Chromosome Location	chr6:31813898-31827045
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:41)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31617566..31630444-chr6:31823885..31836000,84	K562	blood:
2	chr6:31812854..31815463-chr6:31856420..31858260,2	K562	blood:
3	chr6:31818673..31820811-chr6:31829187..31833018,3	K562	blood:
4	chr6:31815431..31818520-chr6:31828570..31831003,3	K562	blood:
5	chr6:31819196..31821598-chr6:31823233..31824787,2	K562	blood:
6	chr6:31758879..31760783-chr6:31824444..31826875,2	K562	blood:
7	chr6:31817673..31819263-chr6:31821738..31824406,2	MCF-7	breast:
8	chr6:31815422..31817421-chr6:31818452..31821417,3	K562	blood:
9	chr6:31820892..31822757-chr6:31826752..31828343,2	K562	blood:
10	chr6:31821795..31823838-chr6:31828365..31830760,3	MCF-7	breast:
11	chr6:31800755..31815108-chr6:31823340..31833266,54	K562	blood:
12	chr6:31812540..31817762-chr6:31828557..31832875,6	MCF-7	breast:
13	chr6:31815422..31817421-chr6:31818452..31821417,3	K562	blood:
14	chr6:31617566..31622844-chr6:31826455..31835211,65	K562	blood:
15	chr6:31811833..31815343-chr6:31817409..31821248,7	K562	blood:
16	chr6:31512787..31515537-chr6:31826894..31829379,2	MCF-7	breast:
17	chr6:31694918..31699964-chr6:31826467..31832957,9	K562	blood:
18	chr6:31812130..31814477-chr6:31875072..31877975,2	K562	blood:
19	chr6:31813640..31815639-chr6:31868886..31870466,2	MCF-7	breast:
20	chr6:31788461..31791125-chr6:31825621..31827331,2	K562	blood:
21	chr6:31795632..31798160-chr6:31824691..31826752,2	K562	blood:
22	chr6:31824043..31826980-chr6:31834536..31836163,2	MCF-7	breast:
23	chr6:31813210..31815471-chr6:31820927..31823318,2	MCF-7	breast:
24	chr6:31704564..31706667-chr6:31825357..31827075,2	K562	blood:
25	chr6:31631387..31634828-chr6:31824744..31828511,4	K562	blood:
26	chr6:31632018..31634069-chr6:31823995..31825857,2	K562	blood:
27	chr6:31820892..31822757-chr6:31826752..31828343,2	K562	blood:
28	chr6:31819388..31820980-chr6:31829059..31830636,2	MCF-7	breast:
29	chr6:31819196..31821598-chr6:31823233..31824787,2	K562	blood:
30	chr6:31812462..31817546-chr6:31826667..31830345,6	K562	blood:
31	chr6:31817673..31819263-chr6:31821738..31824406,2	MCF-7	breast:
32	chr6:31800580..31812447-chr6:31823435..31837480,47	K562	blood:
33	chr6:31811833..31815343-chr6:31817409..31821248,7	K562	blood:
34	chr6:31810854..31812545-chr6:31814196..31816031,2	MCF-7	breast:
35	chr6:31812462..31817546-chr6:31826667..31830345,6	K562	blood:
36	chr6:31803990..31806815-chr6:31815888..31817775,2	MCF-7	breast:
37	chr6:31808421..31810311-chr6:31817022..31818530,2	MCF-7	breast:
38	chr6:31801090..31813654-chr6:31824519..31834411,41	MCF-7	breast:
39	chr6:31813210..31815471-chr6:31820927..31823318,2	MCF-7	breast:
40	chr6:31812766..31815515-chr6:31830788..31832645,2	K562	blood:
41	chr6:31800755..31815108-chr6:31823340..31833266,54	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf48-1	chr6:31825327-31825541	expReg_chr6_3066_+

No data

Variant related genes	Relation type
ENSG00000201754	chromatin interactions
ENSG00000263020	chromatin interactions
ENSG00000254870	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000213722	chromatin interactions
ENSG00000204366	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000204498	chromatin interactions
ENSG00000204385	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000204439	chromatin interactions
ENSG00000227198	chromatin interactions
ENSG00000213760	chromatin interactions
ENSG00000213719	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000204386	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17207657	chr6:31813898-31813899	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551256377	chr6:31813919-31813920	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs566702012	chr6:31813932-31813933	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs533969887	chr6:31813934-31813935	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540529178	chr6:31813937-31813938	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs555308684	chr6:31813947-31813948	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs188082937	chr6:31813949-31813950	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538314031	chr6:31813987-31813988	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs556697882	chr6:31814084-31814085	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs558136262	chr6:31814145-31814146	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113097060	chr6:31814198-31814199	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs192281042	chr6:31814258-31814259	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs7740738	chr6:31814277-31814278	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs111260612	chr6:31814302-31814303	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540936403	chr6:31814307-31814308	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147899615	chr6:31814337-31814338	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs572683670	chr6:31814345-31814346	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529350428	chr6:31814351-31814352	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs543318395	chr6:31814402-31814403	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs561294300	chr6:31814413-31814414	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs531788529	chr6:31814428-31814429	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs114320915	chr6:31814503-31814504	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs199982403	chr6:31814531-31814532	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs562285568	chr6:31814541-31814542	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs200389493	chr6:31814627-31814628	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs558623035	chr6:31814650-31814651	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs28732161	chr6:31814657-31814658	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs550982553	chr6:31814688-31814689	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201304526	chr6:31814861-31814862	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs374621674	chr6:31814901-31814902	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs112255124	chr6:31814911-31814912	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs566745949	chr6:31814963-31814964	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs527557622	chr6:31814992-31814993	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113925052	chr6:31814998-31814999	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374378741	chr6:31815047-31815048	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs370319091	chr6:31815050-31815051	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs567303291	chr6:31815104-31815105	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs538049061	chr6:31815150-31815151	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs368311363	chr6:31815164-31815165	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571798025	chr6:31815168-31815169	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs539018879	chr6:31815185-31815186	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528426818	chr6:31815206-31815207	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs187889723	chr6:31815233-31815234	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs551570356	chr6:31815271-31815272	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs572424267	chr6:31815276-31815277	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs542904131	chr6:31815282-31815283	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs114973486	chr6:31815314-31815315	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs543216902	chr6:31815378-31815379	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576217913	chr6:31815537-31815538	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs192952969	chr6:31815549-31815550	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:133)

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
Lung cancer	18438408	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
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
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	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
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31803000-31817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:31807000-31829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:31807400-31815000	Weak transcription	Hela-S3	cervix
4	chr6:31807400-31824800	Weak transcription	Brain Angular Gyrus	brain
5	chr6:31807400-31829400	Weak transcription	Fetal Brain Male	brain
6	chr6:31807400-31829600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:31807800-31825000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:31807800-31826600	Weak transcription	Right Ventricle	heart
9	chr6:31807800-31827800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:31808000-31826600	Weak transcription	Fetal Kidney	kidney
11	chr6:31808000-31827000	Weak transcription	Small Intestine	intestine
12	chr6:31808000-31829400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:31808000-31829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:31808000-31829800	Weak transcription	Psoas Muscle	Psoas
15	chr6:31808200-31826800	Weak transcription	NHDF-Ad	bronchial
16	chr6:31808600-31819000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:31808600-31823000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:31808600-31825000	Weak transcription	Brain Anterior Caudate	brain
19	chr6:31808600-31825000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:31808600-31825200	Weak transcription	Aorta	Aorta
21	chr6:31808600-31826600	Weak transcription	Dnd41	blood
22	chr6:31808600-31827000	Weak transcription	NHEK	skin
23	chr6:31808600-31827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:31808800-31814200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:31808800-31816600	Weak transcription	GM12878-XiMat	blood
26	chr6:31808800-31819200	Weak transcription	A549	lung
27	chr6:31808800-31819200	Weak transcription	NH-A	brain
28	chr6:31808800-31819600	Weak transcription	Gastric	stomach
29	chr6:31808800-31820600	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:31808800-31823200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:31808800-31824800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:31808800-31824800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:31808800-31824800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:31808800-31825000	Weak transcription	Brain Substantia Nigra	brain
35	chr6:31808800-31825000	Weak transcription	HSMMtube	muscle
36	chr6:31808800-31825200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:31808800-31825200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:31808800-31825400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:31808800-31826600	Weak transcription	Primary B cells from cord blood	blood
40	chr6:31808800-31826600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:31808800-31827200	Weak transcription	HMEC	breast
42	chr6:31808800-31827200	Weak transcription	HSMM	muscle
43	chr6:31808800-31829600	Weak transcription	HUVEC	blood vessel
44	chr6:31809000-31819000	Weak transcription	Liver	Liver
45	chr6:31809000-31819200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:31809000-31823000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:31809000-31824600	Weak transcription	Placenta	Placenta
48	chr6:31809000-31824600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:31809000-31824800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:31809000-31824800	Weak transcription	Rectal Mucosa Donor 29	rectum

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