Variant report

Variant	nsv970735
Chromosome Location	chr6:28575590-28581635
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	chr6:28579846..28585618-chr6:28609150..28616432,10	K562	blood:
2	chr6:28316303..28318769-chr6:28574237..28575779,2	K562	blood:
3	chr6:28579345..28581830-chr6:28688286..28691469,3	K562	blood:
4	chr6:27803792..27806128-chr6:28581594..28583171,2	K562	blood:
5	chr6:28478037..28480974-chr6:28574112..28575644,2	K562	blood:
6	chr6:28519932..28522459-chr6:28575333..28577589,2	K562	blood:
7	chr6:28500567..28502083-chr6:28573952..28576413,2	K562	blood:
8	chr6:28508020..28511004-chr6:28575052..28576613,2	K562	blood:
9	chr6:28579737..28581726-chr6:28636928..28639607,2	K562	blood:
10	chr6:28574634..28576154-chr6:28610831..28612633,2	MCF-7	breast:
11	chr6:28563594..28565340-chr6:28579660..28581510,2	K562	blood:
12	chr6:28579298..28581830-chr6:28687615..28690190,2	K562	blood:
13	chr6:28558971..28561624-chr6:28577206..28579135,2	K562	blood:
14	chr6:28457570..28459445-chr6:28579762..28581303,2	K562	blood:
15	chr6:28544718..28546590-chr6:28574487..28576420,2	K562	blood:
16	chr6:28510237..28512040-chr6:28576892..28578404,2	K562	blood:
17	chr6:28531413..28534282-chr6:28574437..28577006,3	K562	blood:
18	chr6:28568611..28571377-chr6:28573947..28575695,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184348	chromatin interactions
ENSG00000272278	chromatin interactions
ENSG00000189298	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs190991801	chr6:28575712-28575713	Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541179055	chr6:28575823-28575824	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564612142	chr6:28575828-28575829	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552485595	chr6:28575882-28575883	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183353425	chr6:28575903-28575904	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7381750	chr6:28575928-28575929	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138930548	chr6:28575936-28575937	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375169756	chr6:28575949-28575950	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs377625488	chr6:28576008-28576009	Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs4947335	chr6:28576023-28576024	Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186544556	chr6:28576028-28576029	Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs141525348	chr6:28576036-28576037	Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs191418609	chr6:28576056-28576057	Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs551051557	chr6:28576086-28576087	Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs577606588	chr6:28576119-28576120	Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs7381746	chr6:28576125-28576126	Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4947336	chr6:28576143-28576144	Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184626044	chr6:28576219-28576220	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73404986	chr6:28576265-28576266	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536161650	chr6:28576298-28576299	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558928077	chr6:28576310-28576311	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553094320	chr6:28576321-28576322	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572944524	chr6:28576406-28576407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545273506	chr6:28576484-28576485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150891754	chr6:28576502-28576503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187948366	chr6:28576514-28576515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543805072	chr6:28576521-28576522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369385713	chr6:28576540-28576541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535561660	chr6:28576567-28576568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201047573	chr6:28576585-28576586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529542817	chr6:28576621-28576622	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372657727	chr6:28576626-28576627	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542426415	chr6:28576628-28576629	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193104795	chr6:28576641-28576642	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554374180	chr6:28576652-28576653	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575831523	chr6:28576685-28576686	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528673950	chr6:28576743-28576744	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185019150	chr6:28576746-28576747	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570992367	chr6:28576757-28576758	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530532591	chr6:28576790-28576791	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543354581	chr6:28576814-28576815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138324705	chr6:28576864-28576865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564994580	chr6:28576873-28576874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149650464	chr6:28576902-28576903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147349011	chr6:28576952-28576953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545047183	chr6:28576968-28576969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139488040	chr6:28577015-28577016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56122838	chr6:28577017-28577018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561623799	chr6:28577041-28577042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377743989	chr6:28577042-28577043	Enhancers	n/a	n/a	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
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
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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28574000-28575600	Active TSS	Fetal Brain Female	brain
2	chr6:28574600-28575600	Active TSS	Fetal Lung	lung
3	chr6:28574600-28576000	Enhancers	Fetal Heart	heart
4	chr6:28575000-28575600	Enhancers	Placenta	Placenta
5	chr6:28575000-28575800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28575200-28575600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:28575200-28575600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:28575200-28575600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:28575200-28575600	Bivalent Enhancer	Dnd41	blood
10	chr6:28575200-28575600	Enhancers	Hela-S3	cervix
11	chr6:28575200-28575600	Enhancers	HMEC	breast
12	chr6:28575200-28575800	Enhancers	A549	lung
13	chr6:28575200-28576000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:28575200-28576200	Bivalent Enhancer	HepG2	liver
15	chr6:28575400-28575600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:28575400-28575600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:28575400-28575600	Enhancers	Brain Germinal Matrix	brain
18	chr6:28575400-28576400	Flanking Active TSS	K562	blood
19	chr6:28575600-28575800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:28575600-28576000	Enhancers	Fetal Lung	lung
21	chr6:28575800-28576000	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr6:28576000-28576200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr6:28576400-28578000	Enhancers	K562	blood
24	chr6:28576600-28576800	Bivalent Enhancer	Ovary	ovary
25	chr6:28578000-28578400	Weak transcription	K562	blood
26	chr6:28578400-28578600	Enhancers	K562	blood
27	chr6:28578600-28578800	Genic enhancers	K562	blood
28	chr6:28578800-28580400	Transcr. at gene 5' and 3'	K562	blood
29	chr6:28580400-28582800	Active TSS	K562	blood
30	chr6:28580800-28585400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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