Variant report

Variant	nsv970035
Chromosome Location	chr6:32361028-32366616
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:4)
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	chr6:32356860..32358519-chr6:32360443..32363333,2	MCF-7	breast:
2	chr6:32360990..32362711-chr6:32363289..32364863,2	K562	blood:
3	chr6:32360881..32363601-chr6:32363763..32366001,3	MCF-7	breast:
4	chr6:32212479..32213374-chr6:32361354..32361920,2	MCF-7	breast:
5	chr6:32212577..32213569-chr6:32361133..32362153,5	MCF-7	breast:
6	chr6:32360881..32363601-chr6:32363763..32366001,3	MCF-7	breast:
7	chr6:32358023..32360400-chr6:32361196..32362901,2	K562	blood:
8	chr6:32360990..32362711-chr6:32363289..32364863,2	K562	blood:
9	chr6:32363881..32366700-chr6:32368239..32370976,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HLA-DRA-1	chr6:32361226-32361247	XLOC_005254
2	lnc-HLA-DRA-1	chr6:32361226-32361468	NONHSAT108902
3	lnc-HLA-DRA-1	chr6:32360320-32361134	XLOC_005254
4	lnc-HLA-DRA-1	chr6:32361226-32361463	ENSG00000228962.1

No data

Variant related genes	Relation type
ENSG00000228962	chromatin interactions
DKK2	miRNA target sites

Extended variants
information (count: 377 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3817975	chr6:32361030-32361031	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3817974	chr6:32361035-32361036	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17208699	chr6:32361080-32361081	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147902715	chr6:32361082-32361083	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs141794876	chr6:32361094-32361095	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs17208706	chr6:32361101-32361102	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116895572	chr6:32361104-32361105	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs3817973	chr6:32361111-32361112	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs3817972	chr6:32361130-32361131	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs3817971	chr6:32361133-32361134	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547200620	chr6:32361184-32361185	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs17202358	chr6:32361223-32361224	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs3817970	chr6:32361239-32361240	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17202365	chr6:32361251-32361252	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17202372	chr6:32361255-32361256	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147088986	chr6:32361264-32361265	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs145317925	chr6:32361305-32361306	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs577099461	chr6:32361314-32361315	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs117026188	chr6:32361369-32361370	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs3817969	chr6:32361388-32361389	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs149222369	chr6:32361401-32361402	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs17208727	chr6:32361408-32361409	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs17208734	chr6:32361424-32361425	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs17208741	chr6:32361445-32361446	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17202379	chr6:32361449-32361450	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3817968	chr6:32361450-32361451	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs199649534	chr6:32361463-32361464	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs386699309	chr6:32361465-32361466	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs3817967	chr6:32361469-32361470	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143385136	chr6:32361482-32361483	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs17202393	chr6:32361485-32361486	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17202400	chr6:32361525-32361526	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183704766	chr6:32361545-32361546	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs17208748	chr6:32361566-32361567	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147988178	chr6:32361580-32361581	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs17208755	chr6:32361583-32361584	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548817329	chr6:32361594-32361595	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386699310	chr6:32361610-32361611	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs17208769	chr6:32361612-32361613	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs17202407	chr6:32361613-32361614	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116889006	chr6:32361643-32361644	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115985297	chr6:32361670-32361671	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531105851	chr6:32361676-32361677	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs17202414	chr6:32361677-32361678	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545980646	chr6:32361680-32361681	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564548064	chr6:32361687-32361688	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs17202421	chr6:32361693-32361694	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17202428	chr6:32361694-32361695	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181139235	chr6:32361715-32361716	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529574964	chr6:32361733-32361734	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Lung cancer	18438408	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	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
Ovarian cancer	21781307	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
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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32344000-32361400	Weak transcription	Fetal Stomach	stomach
2	chr6:32351400-32365000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:32356000-32361400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:32356400-32364200	Weak transcription	Fetal Lung	lung
5	chr6:32358400-32361400	Weak transcription	GM12878-XiMat	blood
6	chr6:32359600-32361200	Weak transcription	Fetal Brain Male	brain
7	chr6:32360400-32362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:32360600-32361200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:32360600-32361200	Enhancers	HUVEC	blood vessel
10	chr6:32360600-32362000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:32360800-32361200	Enhancers	Fetal Muscle Trunk	muscle
12	chr6:32360800-32361600	Enhancers	HMEC	breast
13	chr6:32360800-32362000	Enhancers	Fetal Muscle Leg	muscle
14	chr6:32360800-32362000	Enhancers	Hela-S3	cervix
15	chr6:32360800-32362800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:32360800-32362800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:32360800-32362800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:32360800-32362800	Enhancers	Esophagus	oesophagus
19	chr6:32361000-32361400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:32361000-32361800	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:32361000-32362200	Flanking Active TSS	NHEK	skin
22	chr6:32361000-32370600	Weak transcription	Spleen	Spleen
23	chr6:32361200-32361400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:32361200-32361400	Enhancers	Fetal Kidney	kidney
25	chr6:32361200-32361400	Flanking Active TSS	HUVEC	blood vessel
26	chr6:32361200-32361600	Strong transcription	Fetal Brain Male	brain
27	chr6:32361200-32366000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:32361400-32361600	Enhancers	HUVEC	blood vessel
29	chr6:32361400-32361800	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:32361400-32362000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:32361400-32362000	Enhancers	GM12878-XiMat	blood
32	chr6:32361400-32363000	Strong transcription	Fetal Stomach	stomach
33	chr6:32361400-32366800	Weak transcription	Fetal Kidney	kidney
34	chr6:32361600-32362000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:32361600-32362000	Flanking Active TSS	HMEC	breast
36	chr6:32361600-32362000	Flanking Active TSS	HUVEC	blood vessel
37	chr6:32361600-32366800	Weak transcription	Fetal Brain Male	brain
38	chr6:32361800-32364600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:32362000-32362400	Enhancers	HUVEC	blood vessel
40	chr6:32362000-32362800	Enhancers	HMEC	breast
41	chr6:32362000-32364200	Weak transcription	GM12878-XiMat	blood
42	chr6:32362000-32365000	Weak transcription	Hela-S3	cervix
43	chr6:32362200-32362800	Enhancers	NHEK	skin
44	chr6:32362800-32365000	Weak transcription	NHEK	skin
45	chr6:32362800-32365400	Weak transcription	HMEC	breast
46	chr6:32362800-32367600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:32362800-32367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:32362800-32369200	Weak transcription	Esophagus	oesophagus
49	chr6:32363000-32364000	Weak transcription	Fetal Stomach	stomach
50	chr6:32364000-32364200	ZNF genes & repeats	Fetal Stomach	stomach

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