Variant report

Variant	esv3354575
Chromosome Location	chr6:37011774-37013322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:37013315-37013564	K562	blood:	n/a	n/a
2	CTCF	chr6:37012791-37012845	MCF-7	breast:	n/a	n/a
3	GABPA	chr6:37012570-37012860	HepG2	liver:	n/a	n/a
4	GABPA	chr6:37012531-37012756	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr6:37013144-37013758	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr6:37013268-37013628	MCF-7	breast:	n/a	n/a
7	HEY1	chr6:37012566-37012839	HepG2	liver:	n/a	n/a
8	MYC	chr6:37012793-37012798	MCF-7	breast:	n/a	n/a
9	MYC	chr6:37012671-37012867	MCF-7	breast:	n/a	n/a
10	MYC	chr6:37012661-37012877	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:37012486-37012934	MCF-7	breast:	n/a	n/a
12	POLR2A	chr6:37012832-37013105	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:37012610-37012719	A549	lung:	n/a	n/a
14	POLR2A	chr6:37012782-37012833	Gliobla	brain:	n/a	n/a
15	POLR2A	chr6:37012563-37012763	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:37012477-37012713	K562	blood:	n/a	n/a
17	POLR2A	chr6:37012567-37012877	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:37012813-37012830	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:37012602-37012750	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:37012599-37012722	Gliobla	brain:	n/a	n/a
21	POLR2A	chr6:37012610-37012753	A549	lung:	n/a	n/a
22	POLR2A	chr6:37012438-37013012	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:37012595-37012758	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:37012530-37012968	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:37012559-37012864	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:37012601-37012886	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:37012549-37012906	A549	lung:	n/a	n/a
28	POLR2A	chr6:37012556-37012763	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:37012611-37012857	A549	lung:	n/a	n/a
30	POLR2A	chr6:37012483-37012879	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:37012450-37012863	ProgFib	skin:	n/a	n/a
32	POLR2A	chr6:37012545-37012963	GM12892	blood:	n/a	n/a
33	POLR2A	chr6:37012568-37012974	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr6:37012509-37012715	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr6:37012497-37013014	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:37012937-37012942	MCF-7	breast:	n/a	n/a
37	POLR2A	chr6:37012611-37012714	A549	lung:	n/a	n/a
38	SPI1	chr6:37012562-37012736	K562	blood:	n/a	n/a
39	SRF	chr6:37012550-37012761	GM12878	blood:	n/a	n/a
40	TAF1	chr6:37012524-37012842	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr6:37012583-37012792	Hela-S3	cervix:	n/a	n/a
42	TAF1	chr6:37012461-37012799	GM12878	blood:	n/a	n/a
43	TAF1	chr6:37012555-37012752	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF3	chr6:37012639-37012902	GM12878	blood:	n/a	n/a
45	YY1	chr6:37012532-37012797	A549	lung:	n/a	n/a
46	YY1	chr6:37012538-37012688	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37012867-37012917	SAEC	small airway:	n/a
2	chr6:37012716-37012766	HCM	heart:	n/a
3	chr6:37012716-37012766	AG10803	skin:	n/a
4	chr6:37012867-37012917	HRPEpiC	eye:	n/a
5	chr6:37012640-37012690	HRCEpiC	kidney:	n/a
6	chr6:37012640-37012690	AG04450	lung:	fetal
7	chr6:37012640-37012690	SK-N-SH	brain:	n/a
8	chr6:37012867-37012917	AoSMC	blood vessel:	n/a
9	chr6:37012867-37012917	NHBE	bronchial:	n/a
10	chr6:37012716-37012766	IMR90	lung:	fetal
11	chr6:37012716-37012766	HEEpiC	esophagus:	n/a
12	chr6:37012867-37012917	HCT-116	colon:	n/a
13	chr6:37012640-37012690	SAEC	small airway:	n/a
14	chr6:37012716-37012766	NT2-D1	testis:	n/a
15	chr6:37012867-37012917	BE2_C	brain:	n/a
16	chr6:37012640-37012690	HEK293	kidney:	embryo
17	chr6:37012640-37012690	A549	lung:	n/a
18	chr6:37012716-37012766	SK-N-SH	brain:	n/a
19	chr6:37012716-37012766	PrEC	prostate:	n/a
20	chr6:37012640-37012690	Hepatocyte	liver:	n/a
21	chr6:37012716-37012766	Caco-2	colon:	n/a
22	chr6:37012716-37012766	GM12892	blood:	n/a
23	chr6:37012716-37012766	HIPEpiC	eye:	n/a
24	chr6:37012640-37012690	SK-N-MC	brain:	n/a
25	chr6:37012867-37012917	A549	lung:	n/a
26	chr6:37012716-37012766	A549	lung:	n/a
27	chr6:37012716-37012766	CMK	blood:	n/a
28	chr6:37012640-37012690	BE2_C	brain:	n/a
29	chr6:37012716-37012766	AG04450	lung:	fetal
30	chr6:37012716-37012766	HRCEpiC	kidney:	n/a
31	chr6:37012640-37012690	GM12892	blood:	n/a
32	chr6:37012716-37012766	H1-hESC	embryonic stem cell:	embryo
33	chr6:37012716-37012766	AG09319	gingival:	n/a
34	chr6:37012867-37012917	AG09319	gingival:	n/a
35	chr6:37012867-37012917	NH-A	brain:	n/a
36	chr6:37012716-37012766	ProgFib	skin:	n/a
37	chr6:37012640-37012690	MCF-7	breast:	n/a
38	chr6:37012867-37012917	AG04449	skin:	fetal
39	chr6:37012867-37012917	IMR90	lung:	fetal
40	chr6:37012640-37012690	HCPEpiC	choroid plexus:	n/a
41	chr6:37012867-37012917	NT2-D1	testis:	n/a
42	chr6:37012867-37012917	H1-hESC	embryonic stem cell:	embryo
43	chr6:37012640-37012690	AoSMC	blood vessel:	n/a
44	chr6:37012640-37012690	ProgFib	skin:	n/a
45	chr6:37012640-37012690	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:37012716-37012766	MCF-7	breast:	n/a
47	chr6:37012867-37012917	HL-60	blood:	n/a
48	chr6:37012640-37012690	NHDF-neo	bronchial:	n/a
49	chr6:37012867-37012917	HIPEpiC	eye:	n/a
50	chr6:37012716-37012766	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr6:37013215..37030579-chr6:37135643..37146812,60	K562	blood:
2	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
3	chr6:37009919..37012374-chr6:37224506..37227184,2	K562	blood:

No data

Variant related genes	Relation type
COX6A1P2	TF binding region
COX6A1P2	CpG island
ENSG00000065491	chromatin interactions
ENSG00000172738	chromatin interactions
ENSG00000137193	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79388105	chr6:37011778-37011779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535177885	chr6:37011794-37011795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548498588	chr6:37011818-37011819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529611672	chr6:37011829-37011830	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111724721	chr6:37011888-37011889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557265019	chr6:37011920-37011921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368330189	chr6:37011928-37011929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561624315	chr6:37011977-37011978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs575609381	chr6:37012048-37012049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190521348	chr6:37012055-37012056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372224286	chr6:37012066-37012067	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558583185	chr6:37012085-37012086	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375786094	chr6:37012086-37012087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138286532	chr6:37012120-37012121	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552127075	chr6:37012135-37012136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548474772	chr6:37012137-37012138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7453147	chr6:37012142-37012143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7450588	chr6:37012148-37012149	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs3997722	chr6:37012156-37012157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7453167	chr6:37012178-37012179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35808240	chr6:37012190-37012191	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372083920	chr6:37012199-37012200	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs375982578	chr6:37012232-37012233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550046737	chr6:37012257-37012258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572050713	chr6:37012258-37012259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs558898549	chr6:37012262-37012263	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs61147798	chr6:37012263-37012264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs10695571	chr6:37012264-37012265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs386406736	chr6:37012270-37012271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs3046129	chr6:37012271-37012272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537321046	chr6:37012273-37012274	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7453189	chr6:37012277-37012278	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7450634	chr6:37012281-37012282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs61314678	chr6:37012292-37012293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs60280802	chr6:37012296-37012297	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs57548490	chr6:37012304-37012305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7453192	chr6:37012311-37012312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs7450638	chr6:37012315-37012316	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558386230	chr6:37012317-37012318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141313147	chr6:37012319-37012320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371365113	chr6:37012321-37012322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs3046131	chr6:37012322-37012323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12527774	chr6:37012336-37012337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12529337	chr6:37012337-37012338	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556804596	chr6:37012369-37012370	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541192962	chr6:37012371-37012372	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184401495	chr6:37012374-37012375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559411606	chr6:37012386-37012387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377656687	chr6:37012434-37012435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370493013	chr6:37012442-37012443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36993800-37018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:36997400-37013800	Weak transcription	Esophagus	oesophagus
3	chr6:37000400-37015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:37002400-37014400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:37006800-37016200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:37006800-37016800	Weak transcription	Right Atrium	heart
7	chr6:37007800-37015200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:37008000-37013800	Weak transcription	Pancreas	Pancrea
9	chr6:37008000-37015200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:37008000-37015600	Weak transcription	GM12878-XiMat	blood
11	chr6:37008200-37015400	Weak transcription	Primary B cells from cord blood	blood
12	chr6:37008600-37015000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:37010000-37013200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:37010000-37013400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:37010000-37013600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:37010000-37013800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:37010200-37013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:37010200-37013600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:37010200-37013800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:37010400-37013200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:37010400-37013200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:37010400-37013400	Weak transcription	Dnd41	blood
23	chr6:37010400-37013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:37010400-37013600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:37010800-37013200	Weak transcription	K562	blood
26	chr6:37013200-37016000	Enhancers	K562	blood
27	chr6:37013200-37016200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:37013200-37016400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:37013200-37016600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:37013200-37017000	Enhancers	Primary T helper cells fromperipheralblood	blood

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