Variant report

Variant	nsv886098
Chromosome Location	chr6:68030203-68140783
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:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:36852253..36854026-chr6:68056023..68057523,2	K562	blood:
2	chr6:67888637..67891235-chr6:68062524..68064747,2	K562	blood:
3	chr6:68062325..68064771-chr6:68066321..68068609,3	K562	blood:
4	chr6:68047804..68050717-chr6:68052651..68054460,2	K562	blood:
5	chr6:68077520..68081954-chr6:68082718..68085102,4	K562	blood:
6	chr6:68117073..68119552-chr6:68122982..68124774,2	MCF-7	breast:
7	chr6:68029025..68030581-chr6:68070322..68071978,2	K562	blood:
8	chr6:68116391..68119187-chr6:68123257..68125394,2	K562	blood:
9	chr6:68077520..68081954-chr6:68082718..68085102,4	K562	blood:
10	chr6:68055450..68058632-chr6:68060210..68064044,3	MCF-7	breast:
11	chr6:68036021..68038147-chr6:68069085..68071759,2	K562	blood:
12	chr6:68099897..68102194-chr6:68105769..68107802,2	K562	blood:
13	chr6:68062325..68064771-chr6:68066321..68068609,3	K562	blood:
14	chr6:68085152..68088022-chr6:68089241..68092194,2	MCF-7	breast:
15	chr6:68029025..68030581-chr6:68070322..68071978,2	K562	blood:
16	chr6:68061490..68063825-chr6:68066626..68069282,2	K562	blood:
17	chr6:68100365..68102401-chr6:68111000..68113004,2	K562	blood:
18	chr6:67641579..67644100-chr6:68068975..68070914,2	K562	blood:
19	chr6:68026494..68028999-chr6:68072957..68074504,2	K562	blood:
20	chr6:68085152..68088022-chr6:68089241..68092194,2	MCF-7	breast:
21	chr6:68116391..68119187-chr6:68123257..68125394,2	K562	blood:
22	chr6:68099897..68102194-chr6:68105769..68107802,2	K562	blood:
23	chr6:68075451..68077006-chr6:68082097..68085010,2	K562	blood:
24	chr6:68105788..68108558-chr6:68122131..68123769,2	K562	blood:
25	chr6:68047804..68050717-chr6:68052651..68054460,2	K562	blood:
26	chr6:68100365..68102401-chr6:68111000..68113004,2	K562	blood:
27	chr6:68130955..68133450-chr6:68149900..68151602,2	MCF-7	breast:
28	chr6:68061490..68063825-chr6:68066626..68069282,2	K562	blood:
29	chr6:68117687..68119606-chr6:68122416..68125394,2	K562	blood:
30	chr6:68028783..68032532-chr6:68036632..68039695,4	K562	blood:
31	chr6:68055450..68058632-chr6:68060210..68064044,3	MCF-7	breast:
32	chr6:68105788..68108558-chr6:68122131..68123769,2	K562	blood:
33	chr6:68117687..68119606-chr6:68122416..68125394,2	K562	blood:
34	chr3:40565910..40566852-chr6:68076614..68077483,2	MCF-7	breast:
35	chr6:68028783..68032532-chr6:68036632..68039695,4	K562	blood:
36	chr6:68036021..68038147-chr6:68069085..68071759,2	K562	blood:
37	chr6:68075451..68077006-chr6:68082097..68085010,2	K562	blood:
38	chr6:68117073..68119552-chr6:68122982..68124774,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAI3-4	chr6:68095954-68096267	XLOC_005337
2	lnc-BAI3-4	chr6:68095844-68095887	XLOC_005337

No data

Variant related genes	Relation type
ENSG00000172888	chromatin interactions
EIF2A	miRNA target sites
LRRFIP1	miRNA target sites

Extended variants
information (count: 969 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531188222	chr6:68030427-68030428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551706204	chr6:68030445-68030446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568428854	chr6:68030460-68030461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192389806	chr6:68030474-68030475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112484487	chr6:68030532-68030533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527897525	chr6:68030533-68030534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547629462	chr6:68030548-68030549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567769211	chr6:68030574-68030575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536710296	chr6:68030583-68030584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11964922	chr6:68030639-68030640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34164578	chr6:68030644-68030645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs77098632	chr6:68030655-68030656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201959518	chr6:68030679-68030680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558071708	chr6:68030711-68030712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13204158	chr6:68030725-68030726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558925429	chr6:68030728-68030729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533992345	chr6:68030816-68030817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375272972	chr6:68030939-68030940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570438360	chr6:68030954-68030955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573488203	chr6:68030966-68030967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542344691	chr6:68030968-68030969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562243447	chr6:68030973-68030974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537811722	chr6:68030977-68030978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183712186	chr6:68031013-68031014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544639545	chr6:68031081-68031082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556138605	chr6:68031090-68031091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574408910	chr6:68031164-68031165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565576025	chr6:68031176-68031177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375483107	chr6:68031180-68031181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186831859	chr6:68031192-68031193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191250437	chr6:68031248-68031249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541910998	chr6:68031254-68031255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375607081	chr6:68031269-68031270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182296303	chr6:68031280-68031281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139491766	chr6:68031307-68031308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61354412	chr6:68031340-68031341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114083428	chr6:68031368-68031369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546067817	chr6:68031443-68031444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187290654	chr6:68031449-68031450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71555346	chr6:68031450-68031451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374756075	chr6:68031456-68031457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386407420	chr6:68031458-68031459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146580072	chr6:68031484-68031485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60451100	chr6:68031485-68031486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185363692	chr6:68031493-68031494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189845589	chr6:68031539-68031540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193261433	chr6:68031545-68031546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554015071	chr6:68031562-68031563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184524741	chr6:68031567-68031568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35845566	chr6:68031573-68031574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68030400-68030800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:68030400-68035600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:68031800-68032400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:68037800-68038200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:68040600-68041200	Enhancers	Fetal Brain Male	brain
6	chr6:68041200-68041600	Weak transcription	Fetal Brain Male	brain
7	chr6:68041600-68042000	Enhancers	Fetal Brain Male	brain
8	chr6:68050200-68050600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:68050600-68054000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:68054000-68054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:68055600-68056600	Enhancers	HMEC	breast
12	chr6:68055600-68056600	Enhancers	NHEK	skin
13	chr6:68055800-68056400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:68056000-68056400	Enhancers	HepG2	liver
15	chr6:68056200-68056600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:68062800-68064200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:68063000-68064400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:68063600-68064400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:68068200-68068800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:68068200-68069400	Enhancers	K562	blood
21	chr6:68068800-68071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:68069400-68071000	Weak transcription	K562	blood
23	chr6:68070800-68071000	Enhancers	HepG2	liver
24	chr6:68070800-68071400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:68071000-68071200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:68071000-68071200	Enhancers	Dnd41	blood
27	chr6:68071000-68071200	Flanking Active TSS	K562	blood
28	chr6:68071000-68071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:68071000-68071400	Flanking Active TSS	HepG2	liver
30	chr6:68071000-68071600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:68071000-68071600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:68071200-68071400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:68071200-68071400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:68071200-68071600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:68071200-68071600	Flanking Active TSS	Dnd41	blood
36	chr6:68071200-68071800	Active TSS	A549	lung
37	chr6:68071200-68073800	Active TSS	K562	blood
38	chr6:68071400-68071800	Active TSS	HepG2	liver
39	chr6:68071600-68072000	Enhancers	Dnd41	blood
40	chr6:68073800-68074000	Flanking Active TSS	K562	blood
41	chr6:68094200-68095000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:68108400-68109000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:68112200-68112600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:68112400-68112600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:68120800-68121400	Enhancers	HUVEC	blood vessel
46	chr6:68121000-68121400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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