Variant report

Variant	nsv525288
Chromosome Location	chr6:36934244-36937647
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36852534..36855204-chr6:36935328..36937029,2	MCF-7	breast:
2	chr6:36903375..36906327-chr6:36934903..36936989,2	MCF-7	breast:
3	chr6:36927877..36929590-chr6:36935143..36936751,2	MCF-7	breast:
4	chr6:36933241..36935002-chr6:36938613..36940205,2	MCF-7	breast:
5	chr6:36856253..36859191-chr6:36932885..36935045,2	K562	blood:
6	chr6:36921333..36923898-chr6:36932868..36934927,2	K562	blood:
7	chr6:36853681..36855481-chr6:36934818..36937310,2	K562	blood:
8	chr6:36934586..36938326-chr6:36939684..36941889,3	MCF-7	breast:
9	chr6:36934908..36939247-chr6:36952489..36955593,6	MCF-7	breast:
10	chr6:36885599..36889594-chr6:36935719..36938209,3	MCF-7	breast:
11	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164530	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000198663	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs708006	chr6:36934244-36934245	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566009528	chr6:36934247-36934248	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535132790	chr6:36934263-36934264	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374993327	chr6:36934294-36934295	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144232251	chr6:36934312-36934313	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34524698	chr6:36934367-36934368	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568318061	chr6:36934376-36934377	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147790623	chr6:36934386-36934387	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12664695	chr6:36934392-36934393	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74867916	chr6:36934393-36934394	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147696289	chr6:36934446-36934447	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10601742	chr6:36934448-36934449	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201625847	chr6:36934452-36934453	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575506387	chr6:36934491-36934492	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192352857	chr6:36934496-36934497	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374825638	chr6:36934531-36934532	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558538892	chr6:36934568-36934569	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572005333	chr6:36934580-36934581	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4147297	chr6:36934585-36934586	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs561013971	chr6:36934607-36934608	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113917316	chr6:36934608-36934609	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182081955	chr6:36934675-36934676	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs753634	chr6:36934694-36934695	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs532462266	chr6:36934700-36934701	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs141246815	chr6:36934747-36934748	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs753635	chr6:36934762-36934763	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs374793309	chr6:36934788-36934789	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187082811	chr6:36934793-36934794	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111718632	chr6:36934806-36934807	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568254048	chr6:36934813-36934814	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530992327	chr6:36934915-36934916	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550789901	chr6:36934916-36934917	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367649070	chr6:36934921-36934922	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191601902	chr6:36934950-36934951	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540134861	chr6:36935017-36935018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553894371	chr6:36935028-36935029	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371204404	chr6:36935038-36935039	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34993558	chr6:36935053-36935054	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565668662	chr6:36935071-36935072	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534363296	chr6:36935085-36935086	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371825370	chr6:36935109-36935110	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567454298	chr6:36935117-36935118	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200400303	chr6:36935126-36935127	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184465595	chr6:36935135-36935136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147720793	chr6:36935168-36935169	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557206012	chr6:36935206-36935207	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149204814	chr6:36935237-36935238	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143388266	chr6:36935242-36935243	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545544239	chr6:36935262-36935263	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115814455	chr6:36935311-36935312	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36928200-36935200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:36928600-36935000	Weak transcription	HSMMtube	muscle
3	chr6:36928600-36935400	Weak transcription	Small Intestine	intestine
4	chr6:36928800-36935000	Weak transcription	HUVEC	blood vessel
5	chr6:36929000-36934400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:36929000-36934800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:36929000-36935200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:36929000-36935400	Weak transcription	Ovary	ovary
9	chr6:36929000-36935400	Weak transcription	A549	lung
10	chr6:36929200-36934600	Weak transcription	NH-A	brain
11	chr6:36929400-36934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:36929400-36935200	Weak transcription	K562	blood
13	chr6:36929600-36936800	Weak transcription	Hela-S3	cervix
14	chr6:36931400-36935000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:36931400-36935000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:36931400-36935000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:36931400-36935600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:36931600-36934800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:36931600-36935000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:36931600-36935200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:36931600-36935200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:36931600-36935200	Weak transcription	HMEC	breast
23	chr6:36931600-36935400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:36931600-36935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:36931600-36936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:36931600-36938600	Weak transcription	Fetal Brain Male	brain
27	chr6:36931800-36934400	Weak transcription	Colonic Mucosa	Colon
28	chr6:36931800-36934400	Weak transcription	Fetal Intestine Large	intestine
29	chr6:36931800-36934400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:36931800-36934800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:36931800-36935000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:36931800-36935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:36931800-36948600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:36932000-36934400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:36932000-36934400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:36932000-36934600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:36932000-36935000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:36932000-36935200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:36932200-36934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:36932200-36934600	Weak transcription	Placenta	Placenta
41	chr6:36932200-36934800	Weak transcription	Brain Angular Gyrus	brain
42	chr6:36932200-36934800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:36932200-36935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:36932200-36935000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:36932200-36935400	Weak transcription	GM12878-XiMat	blood
46	chr6:36932400-36934400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:36932400-36934400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:36932400-36934400	Weak transcription	NHEK	skin
49	chr6:36932400-36946800	Strong transcription	Fetal Brain Female	brain
50	chr6:36932400-36951800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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