Variant report

Variant	nsv969391
Chromosome Location	chr6:36569791-36570791
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:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36389514..36391373-chr6:36570790..36573256,2	K562	blood:
2	chr6:36525931..36527462-chr6:36570238..36572725,2	MCF-7	breast:
3	chr6:36410434..36413088-chr6:36566974..36569964,3	K562	blood:
4	chr6:36339409..36341953-chr6:36569258..36572239,2	K562	blood:
5	chr6:36570219..36573404-chr6:36646918..36650255,3	K562	blood:
6	chr6:36513256..36514925-chr6:36570218..36572859,3	K562	blood:
7	chr6:36403741..36414959-chr6:36560215..36569964,50	K562	blood:
8	chr6:36510024..36516034-chr6:36569455..36577118,9	MCF-7	breast:
9	chr6:36559895..36571260-chr6:36642384..36648914,19	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SFRS3	hsa-miR-186-5p	chr6:36570539-36570560
2	SFRS3	hsa-miR-186-5p	chr6:36570379-36570401

Variant related genes	Relation type
ENSG00000124762	chromatin interactions
ENSG00000112079	chromatin interactions
ENSG00000179165	chromatin interactions
ENSG00000112078	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376309891	chr6:36569848-36569849	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs570006649	chr6:36569851-36569852	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs186247552	chr6:36569888-36569889	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs558745455	chr6:36569920-36569921	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs576936298	chr6:36569938-36569939	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs139452526	chr6:36569943-36569944	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs557019024	chr6:36569958-36569959	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs552612314	chr6:36569999-36570000	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574188684	chr6:36570029-36570030	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541461887	chr6:36570032-36570033	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149758486	chr6:36570039-36570040	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs59352669	chr6:36570045-36570046	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs60359372	chr6:36570049-36570050	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112717928	chr6:36570068-36570069	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565490231	chr6:36570076-36570077	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375950789	chr6:36570081-36570082	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs562148017	chr6:36570082-36570083	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532556394	chr6:36570090-36570091	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547872299	chr6:36570091-36570092	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145617763	chr6:36570111-36570112	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566256837	chr6:36570122-36570123	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11552554	chr6:36570201-36570202	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11552549	chr6:36570202-36570203	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148890076	chr6:36570227-36570228	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570045897	chr6:36570262-36570263	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537375654	chr6:36570266-36570267	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558539520	chr6:36570277-36570278	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191947414	chr6:36570300-36570301	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534474008	chr6:36570341-36570342	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552737079	chr6:36570349-36570350	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7344	chr6:36570366-36570367	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs3173259	chr6:36570388-36570389	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
33	rs562166040	chr6:36570389-36570390	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
34	rs374785915	chr6:36570412-36570413	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556558848	chr6:36570649-36570650	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75915494	chr6:36570707-36570708	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145255788	chr6:36570719-36570720	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565392192	chr6:36570765-36570766	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577462348	chr6:36570790-36570791	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
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
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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Autism	20531469	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36562600-36570400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr6:36562600-36571800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:36564000-36570400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr6:36564000-36571600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr6:36564400-36569800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
6	chr6:36564400-36570400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr6:36564800-36570400	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr6:36565400-36574200	Genic enhancers	Fetal Heart	heart
9	chr6:36566000-36570000	Genic enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:36566400-36570400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:36566600-36577400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:36566800-36570600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:36566800-36577800	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr6:36566800-36582800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:36567000-36570200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:36567000-36574400	Genic enhancers	A549	lung
17	chr6:36567000-36580400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:36567400-36570400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:36567600-36578400	Genic enhancers	Liver	Liver
20	chr6:36567800-36575600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:36568000-36570400	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:36568000-36570400	Genic enhancers	Brain Cingulate Gyrus	brain
23	chr6:36568000-36572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:36568000-36574200	Genic enhancers	Rectal Smooth Muscle	rectum
25	chr6:36568000-36575200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr6:36568000-36576200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:36568000-36577800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:36568000-36581400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:36568200-36570000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:36568200-36570200	Strong transcription	HSMMtube	muscle
31	chr6:36568200-36570200	Genic enhancers	HUVEC	blood vessel
32	chr6:36568200-36570400	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:36568200-36570800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:36568200-36571000	Weak transcription	Ovary	ovary
35	chr6:36568200-36572000	Genic enhancers	Brain Substantia Nigra	brain
36	chr6:36568200-36572200	Strong transcription	Left Ventricle	heart
37	chr6:36568200-36573000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr6:36568200-36573600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:36568200-36574200	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr6:36568200-36574200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:36568200-36574400	Strong transcription	Colonic Mucosa	Colon
42	chr6:36568200-36575200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr6:36568200-36577400	Genic enhancers	NHEK	skin
44	chr6:36568200-36580200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:36568400-36570000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:36568400-36571000	Weak transcription	Stomach Mucosa	stomach
47	chr6:36568400-36571200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr6:36568400-36575800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:36568600-36570000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:36568600-36570400	Genic enhancers	Primary T cells fromperipheralblood	blood

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