Variant report

Variant	nsv969364
Chromosome Location	chr6:26891196-26896488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:26896004-26896253	GM12878	blood:	n/a	n/a
2	BATF	chr6:26896440-26896670	GM12878	blood:	n/a	chr6:26896493-26896502
3	BCL11A	chr6:26896439-26896696	GM12878	blood:	n/a	n/a
4	CTCF	chr6:26895548-26895584	Medullo	brain:	n/a	n/a
5	EBF1	chr6:26893998-26894172	GM12878	blood:	n/a	n/a
6	EBF1	chr6:26896373-26896619	GM12878	blood:	n/a	n/a
7	EBF1	chr6:26896025-26896214	GM12878	blood:	n/a	n/a
8	EBF1	chr6:26896385-26896627	GM12878	blood:	n/a	n/a
9	EP300	chr6:26893079-26893231	GM12878	blood:	n/a	n/a
10	EP300	chr6:26895984-26896264	GM12878	blood:	n/a	n/a
11	EP300	chr6:26896363-26896655	GM12878	blood:	n/a	chr6:26896411-26896425
12	EP300	chr6:26895368-26895618	GM12878	blood:	n/a	n/a
13	EP300	chr6:26894947-26895233	GM12878	blood:	n/a	n/a
14	FOSL2	chr6:26896395-26896711	HepG2	liver:	n/a	n/a
15	FOSL2	chr6:26895037-26895595	HepG2	liver:	n/a	n/a
16	FOSL2	chr6:26895307-26895566	HepG2	liver:	n/a	n/a
17	GABPA	chr6:26895387-26895717	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr6:26896436-26896661	Hela-S3	cervix:	n/a	n/a
19	GATA2	chr6:26895778-26896280	K562	blood:	n/a	n/a
20	GATA2	chr6:26894479-26894805	K562	blood:	n/a	n/a
21	GATA2	chr6:26893000-26893296	K562	blood:	n/a	chr6:26893068-26893078
22	HEY1	chr6:26895350-26895776	K562	blood:	n/a	n/a
23	HEY1	chr6:26896364-26896664	K562	blood:	n/a	n/a
24	HEY1	chr6:26895821-26896246	K562	blood:	n/a	n/a
25	IRF4	chr6:26892892-26893234	GM12878	blood:	n/a	n/a
26	IRF4	chr6:26895013-26895319	GM12878	blood:	n/a	n/a
27	IRF4	chr6:26893872-26894215	GM12878	blood:	n/a	n/a
28	PAX5	chr6:26895489-26895661	GM12878	blood:	n/a	n/a
29	PAX5	chr6:26896395-26896679	GM12878	blood:	n/a	n/a
30	PAX5	chr6:26895068-26895274	GM12878	blood:	n/a	chr6:26895262-26895271
31	PAX5	chr6:26896387-26896652	GM12878	blood:	n/a	n/a
32	PAX5	chr6:26895437-26895592	GM12878	blood:	n/a	n/a
33	PBX3	chr6:26896030-26896214	GM12878	blood:	n/a	chr6:26896148-26896157
34	PBX3	chr6:26896447-26896555	GM12878	blood:	n/a	n/a
35	PBX3	chr6:26893291-26893415	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:26896027-26896235	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:26895929-26896248	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr6:26895982-26896255	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:26894984-26895268	GM12878	blood:	n/a	n/a
40	POU2F2	chr6:26896007-26896178	GM12878	blood:	n/a	n/a
41	POU2F2	chr6:26896387-26896690	GM12878	blood:	n/a	n/a
42	POU2F2	chr6:26894992-26895724	GM12878	blood:	n/a	chr6:26895362-26895369 chr6:26895361-26895370
43	POU2F2	chr6:26896440-26896584	GM12878	blood:	n/a	n/a
44	RXRA	chr6:26895430-26895638	HepG2	liver:	n/a	n/a
45	SIX5	chr6:26895336-26895718	K562	blood:	n/a	n/a
46	SIX5	chr6:26896319-26896618	GM12878	blood:	n/a	n/a
47	SIX5	chr6:26896392-26896686	K562	blood:	n/a	n/a
48	SP1	chr6:26892982-26893064	HepG2	liver:	n/a	n/a
49	SP1	chr6:26895985-26896263	GM12878	blood:	n/a	n/a
50	SP1	chr6:26896382-26896722	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIST1H2BJ-10	chr6:26892898-26893054	NONHSAT108318

Variant related genes	Relation type
GUSBP2	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368353347	chr6:26891224-26891225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116359702	chr6:26891229-26891230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371558092	chr6:26891242-26891243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565144024	chr6:26891291-26891292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530753975	chr6:26891378-26891379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550747727	chr6:26891486-26891487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113437043	chr6:26891510-26891511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187378730	chr6:26891529-26891530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192161754	chr6:26891559-26891560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11755443	chr6:26891603-26891604	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs566232924	chr6:26891633-26891634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184048501	chr6:26891653-26891654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201794489	chr6:26891669-26891670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551928245	chr6:26891701-26891702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569533490	chr6:26891708-26891709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7775242	chr6:26891739-26891740	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs6456760	chr6:26891743-26891744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574898646	chr6:26891777-26891778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7768643	chr6:26891919-26891920	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs554258559	chr6:26891943-26891944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7768763	chr6:26891953-26891954	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs546209040	chr6:26891963-26891964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561224717	chr6:26891997-26891998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7768814	chr6:26892036-26892037	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs79251490	chr6:26892110-26892111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369933068	chr6:26892119-26892120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201854244	chr6:26892129-26892130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188039181	chr6:26892222-26892223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7769520	chr6:26892264-26892265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs145308571	chr6:26892268-26892269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149169953	chr6:26892319-26892320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559806680	chr6:26892321-26892322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532125505	chr6:26892345-26892346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552131478	chr6:26892369-26892370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200847014	chr6:26892391-26892392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568796135	chr6:26892460-26892461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192980397	chr6:26892486-26892487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548571066	chr6:26892523-26892524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568772400	chr6:26892571-26892572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532666927	chr6:26892580-26892581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184339636	chr6:26892601-26892602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2754658	chr6:26892626-26892627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554444690	chr6:26892688-26892689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577412940	chr6:26892744-26892745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539967505	chr6:26892745-26892746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189621858	chr6:26892847-26892848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377233720	chr6:26892858-26892859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12525227	chr6:26892880-26892881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560984463	chr6:26892884-26892885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574432944	chr6:26892923-26892924	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Hodgkin''s lymphoma	17606441	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
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26888200-26893800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:26889400-26893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:26889600-26891600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:26889600-26891800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:26889800-26894400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:26890200-26892800	Weak transcription	Adipose Nuclei	Adipose
7	chr6:26890200-26894400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:26890400-26893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:26890600-26892800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:26890600-26893000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:26890600-26893000	Weak transcription	Fetal Kidney	kidney
12	chr6:26891600-26891800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:26891800-26892200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:26891800-26893800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:26892200-26893800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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