Variant report

Variant	nsv884734
Chromosome Location	chr6:32339647-32349711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:32341778-32342105	HepG2	liver:	n/a	n/a
2	CBX3	chr6:32341732-32342198	HCT-116	colon:	n/a	n/a
3	CEBPB	chr6:32341733-32341934	A549	lung:	n/a	n/a
4	CTCF	chr6:32341860-32342010	GM12864	blood:	n/a	n/a
5	EBF1	chr6:32344047-32344247	GM12878	blood:	n/a	chr6:32344133-32344144
6	EP300	chr6:32341731-32342181	A549	lung:	n/a	n/a
7	EP300	chr6:32345420-32345547	K562	blood:	n/a	n/a
8	FAM48A	chr6:32344986-32345116	GM12878	blood:	n/a	n/a
9	FOSL1	chr6:32341675-32342200	HCT-116	colon:	n/a	n/a
10	FOSL1	chr6:32341707-32342134	HCT-116	colon:	n/a	n/a
11	FOSL2	chr6:32341780-32342110	A549	lung:	n/a	n/a
12	FOSL2	chr6:32341699-32342222	A549	lung:	n/a	n/a
13	FOXA1	chr6:32341766-32342200	HepG2	liver:	n/a	n/a
14	FOXA1	chr6:32341860-32342221	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:32341695-32342218	HepG2	liver:	n/a	n/a
16	FOXA2	chr6:32341723-32342213	A549	lung:	n/a	n/a
17	FOXA2	chr6:32341879-32342104	HepG2	liver:	n/a	n/a
18	FOXA2	chr6:32341719-32342128	A549	lung:	n/a	n/a
19	GABPA	chr6:32341826-32342191	A549	lung:	n/a	n/a
20	GABPA	chr6:32341750-32342151	A549	lung:	n/a	n/a
21	GATA2	chr6:32338999-32339679	HUVEC	blood vessel:	n/a	chr6:32339165-32339175
22	GATA3	chr6:32341566-32342216	A549	lung:	n/a	n/a
23	JUN	chr6:32347922-32347971	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr6:32341870-32342128	A549	lung:	n/a	n/a
25	JUND	chr6:32341817-32342158	A549	lung:	n/a	n/a
26	JUND	chr6:32341688-32342173	HCT-116	colon:	n/a	n/a
27	MAFF	chr6:32341453-32341763	K562	blood:	n/a	chr6:32341588-32341606
28	MAFF	chr6:32341443-32341772	HepG2	liver:	n/a	chr6:32341588-32341606
29	MAFK	chr6:32341415-32341786	HepG2	liver:	n/a	chr6:32341590-32341605
30	MAFK	chr6:32341461-32341771	HepG2	liver:	n/a	chr6:32341590-32341605
31	MAFK	chr6:32341445-32341723	K562	blood:	n/a	chr6:32341590-32341605
32	MAFK	chr6:32341454-32341755	IMR90	lung:	n/a	chr6:32341590-32341605
33	MAFK	chr6:32341461-32341745	Hela-S3	cervix:	n/a	chr6:32341590-32341605
34	MAX	chr6:32341695-32342110	A549	lung:	n/a	n/a
35	MAZ	chr6:32341986-32342112	HepG2	liver:	n/a	n/a
36	MYC	chr6:32340770-32340921	H1-hESC	embryonic stem cell:	n/a	n/a
37	SP1	chr6:32341744-32342264	HCT-116	colon:	n/a	n/a
38	SP1	chr6:32341695-32342274	A549	lung:	n/a	n/a
39	SP1	chr6:32341644-32342231	A549	lung:	n/a	n/a
40	TCF12	chr6:32341544-32342243	A549	lung:	n/a	n/a
41	TCF7L2	chr6:32341488-32341671	HepG2	liver:	n/a	n/a
42	USF1	chr6:32341787-32342147	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32340354-32340404	PFSK-1	brain:	n/a
2	chr6:32340354-32340404	MCF10A-Er-Src	breast:	n/a
3	chr6:32340354-32340404	IMR90	lung:	fetal
4	chr6:32340955-32341005	H1-hESC	embryonic stem cell:	embryo
5	chr6:32340354-32340404	HepG2	liver:	n/a
6	chr6:32340354-32340404	PrEC	prostate:	n/a
7	chr6:32340354-32340404	HEEpiC	esophagus:	n/a
8	chr6:32340955-32341005	GM12878	blood:	n/a
9	chr6:32340354-32340404	BJ	skin:	n/a
10	chr6:32340354-32340404	HNPCEpiC	eye:	n/a
11	chr6:32340354-32340404	HEK293	kidney:	embryo
12	chr6:32340354-32340404	BE2_C	brain:	n/a
13	chr6:32340955-32341005	HepG2	liver:	n/a
14	chr6:32340208-32340258	HUVEC	blood vessel:	n/a
15	chr6:32340354-32340404	GM12891	blood:	n/a
16	chr6:32340208-32340258	CMK	blood:	n/a
17	chr6:32340955-32341005	ovcar-3	ovarian:	n/a
18	chr6:32340208-32340258	T-47D	breast:	n/a
19	chr6:32340955-32341005	HRCEpiC	kidney:	n/a
20	chr6:32340955-32341005	GM12891	blood:	n/a
21	chr6:32340208-32340258	RPTEC	kidney:	n/a
22	chr6:32340208-32340258	NT2-D1	testis:	n/a
23	chr6:32340208-32340258	GM06990	blood:	n/a
24	chr6:32340354-32340404	ProgFib	skin:	n/a
25	chr6:32340354-32340404	GM12878	blood:	n/a
26	chr6:32340354-32340404	HAEpiC	amniotic membrane:	n/a
27	chr6:32340955-32341005	HUVEC	blood vessel:	n/a
28	chr6:32340208-32340258	GM12892	blood:	n/a
29	chr6:32340354-32340404	NHDF-neo	bronchial:	n/a
30	chr6:32340208-32340258	Hepatocyte	liver:	n/a
31	chr6:32340354-32340404	T-47D	breast:	n/a
32	chr6:32340354-32340404	NHBE	bronchial:	n/a
33	chr6:32340955-32341005	K562	blood:	n/a
34	chr6:32340955-32341005	HCM	heart:	n/a
35	chr6:32340208-32340258	HRPEpiC	eye:	n/a
36	chr6:32340208-32340258	Jurkat	blood:	n/a
37	chr6:32340354-32340404	LNCaP	prostate:	n/a
38	chr6:32340208-32340258	HNPCEpiC	eye:	n/a
39	chr6:32340354-32340404	PANC-1	pancreas:	n/a
40	chr6:32340208-32340258	BE2_C	brain:	n/a
41	chr6:32340208-32340258	AG09309	skin:	n/a
42	chr6:32340955-32341005	HNPCEpiC	eye:	n/a
43	chr6:32340354-32340404	AG10803	skin:	n/a
44	chr6:32340354-32340404	H1-hESC	embryonic stem cell:	embryo
45	chr6:32340955-32341005	A549	lung:	n/a
46	chr6:32340354-32340404	Hela-S3	cervix:	n/a
47	chr6:32340955-32341005	Caco-2	colon:	n/a
48	chr6:32340955-32341005	IMR90	lung:	fetal
49	chr6:32340208-32340258	AG04450	lung:	fetal
50	chr6:32340955-32341005	MCF-7	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32340623..32343267-chr6:32371760..32373920,2	K562	blood:
2	chr6:32341767..32343740-chr6:32372075..32373920,2	K562	blood:
3	chr6:32338535..32340842-chr6:32342130..32344081,2	K562	blood:

No data

Variant related genes	Relation type
C6orf10	TF binding region
C6orf10	CpG island
ENSG00000204296	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184230217	chr6:32339700-32339701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370850064	chr6:32339705-32339706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574587732	chr6:32339723-32339724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115347370	chr6:32339761-32339762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563310856	chr6:32339762-32339763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9501618	chr6:32339784-32339785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546106154	chr6:32339787-32339788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368601346	chr6:32339819-32339820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6913309	chr6:32339840-32339841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371173179	chr6:32339920-32339921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6913471	chr6:32339925-32339926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs111625658	chr6:32339988-32339989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529357392	chr6:32339989-32339990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140111708	chr6:32339993-32339994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568959737	chr6:32340060-32340061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386699299	chr6:32340068-32340069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113105780	chr6:32340069-32340070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1980496	chr6:32340070-32340071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112850988	chr6:32340081-32340082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113050470	chr6:32340095-32340096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2281276	chr6:32340106-32340107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542017036	chr6:32340107-32340108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113103943	chr6:32340124-32340125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557071162	chr6:32340149-32340150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575228653	chr6:32340150-32340151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6651025	chr6:32340166-32340167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540748122	chr6:32340170-32340171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3117110	chr6:32340176-32340177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574178974	chr6:32340199-32340200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141253008	chr6:32340208-32340209	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs561589226	chr6:32340209-32340210	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs9268399	chr6:32340236-32340237	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
33	rs550692660	chr6:32340247-32340248	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs562629197	chr6:32340250-32340251	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs561525801	chr6:32340299-32340300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116653433	chr6:32340302-32340303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576663709	chr6:32340331-32340332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57539957	chr6:32340355-32340356	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs11752613	chr6:32340356-32340357	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs181156828	chr6:32340358-32340359	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs77709710	chr6:32340374-32340375	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs549692767	chr6:32340414-32340415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138146649	chr6:32340484-32340485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62404833	chr6:32340593-32340594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs62404834	chr6:32340596-32340597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9268400	chr6:32340654-32340655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs530214794	chr6:32340657-32340658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539473946	chr6:32340693-32340694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114775780	chr6:32340711-32340712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9461739	chr6:32340792-32340793	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

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
Lung cancer	18438408	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
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	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
abnormal development	18461090	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
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32337800-32342000	Weak transcription	Small Intestine	intestine
2	chr6:32338200-32339800	Enhancers	Hela-S3	cervix
3	chr6:32339400-32340000	Enhancers	HUVEC	blood vessel
4	chr6:32339400-32341000	Weak transcription	A549	lung
5	chr6:32341000-32342600	Enhancers	A549	lung
6	chr6:32341400-32343200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:32341400-32345000	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:32341600-32342400	Enhancers	HepG2	liver
9	chr6:32341800-32342000	Enhancers	HUVEC	blood vessel
10	chr6:32341800-32343400	Weak transcription	Fetal Stomach	stomach
11	chr6:32342000-32342200	Enhancers	Small Intestine	intestine
12	chr6:32342000-32342400	Enhancers	Fetal Intestine Small	intestine
13	chr6:32342000-32342400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr6:32342000-32342600	Enhancers	Fetal Intestine Large	intestine
15	chr6:32342000-32342800	Enhancers	Stomach Mucosa	stomach
16	chr6:32342200-32343200	Weak transcription	Small Intestine	intestine
17	chr6:32342800-32355200	Weak transcription	Stomach Mucosa	stomach
18	chr6:32343200-32343400	Enhancers	Small Intestine	intestine
19	chr6:32343200-32344200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:32343400-32344000	Strong transcription	Fetal Stomach	stomach
21	chr6:32343600-32344200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:32343800-32344400	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:32344000-32361400	Weak transcription	Fetal Stomach	stomach
24	chr6:32344200-32345800	Enhancers	Fetal Intestine Large	intestine
25	chr6:32344200-32345800	Enhancers	Fetal Intestine Small	intestine
26	chr6:32344200-32346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:32345000-32345200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr6:32345200-32345600	Active TSS	Duodenum Mucosa	Duodenum
29	chr6:32345600-32345800	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:32345800-32355000	Weak transcription	Duodenum Mucosa	Duodenum

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