Variant report

Variant	esv32896
Chromosome Location	chr6:35734902-35740150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:35736599-35736738	IMR90	lung:	n/a	chr6:35736669-35736680
2	CEBPB	chr6:35735049-35735267	HepG2	liver:	n/a	chr6:35735162-35735173 chr6:35735160-35735171
3	CEBPB	chr6:35736563-35736730	A549	lung:	n/a	chr6:35736669-35736680
4	CEBPB	chr6:35736627-35736820	K562	blood:	n/a	chr6:35736669-35736680
5	CEBPB	chr6:35736577-35736818	HepG2	liver:	n/a	chr6:35736669-35736680
6	CTCF	chr6:35736093-35736122	MCF-7	breast:	n/a	n/a
7	EBF1	chr6:35738872-35739167	GM12878	blood:	n/a	n/a
8	MAFF	chr6:35738358-35738677	HepG2	liver:	n/a	chr6:35738510-35738528
9	MAFF	chr6:35738427-35738646	K562	blood:	n/a	chr6:35738510-35738528
10	MAFK	chr6:35738344-35738690	HepG2	liver:	n/a	chr6:35738511-35738526
11	MAFK	chr6:35738370-35738646	IMR90	lung:	n/a	chr6:35738511-35738526
12	MAFK	chr6:35738542-35738588	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAFK	chr6:35738359-35738680	HepG2	liver:	n/a	chr6:35738511-35738526
14	MAFK	chr6:35738456-35738621	K562	blood:	n/a	chr6:35738511-35738526
15	MAX	chr6:35738612-35739063	NB4	blood:	n/a	n/a
16	POLR2A	chr6:35738911-35738945	K562	blood:	n/a	n/a
17	POLR2A	chr6:35739697-35739705	K562	blood:	n/a	n/a
18	RUNX3	chr6:35738582-35739140	GM12878	blood:	n/a	n/a
19	RUNX3	chr6:35738568-35738923	GM12878	blood:	n/a	n/a
20	SPI1	chr6:35738476-35738831	GM12891	blood:	n/a	n/a
21	SPI1	chr6:35738455-35739040	HL-60	blood:	n/a	chr6:35738977-35738990
22	SPI1	chr6:35738554-35738841	GM12891	blood:	n/a	n/a
23	SPI1	chr6:35739184-35739549	HL-60	blood:	n/a	n/a
24	SPI1	chr6:35734969-35735161	K562	blood:	n/a	chr6:35735073-35735086 chr6:35735072-35735085
25	SPI1	chr6:35738538-35738887	HL-60	blood:	n/a	n/a
26	SPI1	chr6:35738618-35738825	GM12878	blood:	n/a	n/a
27	TCF3	chr6:35738582-35738821	GM12878	blood:	n/a	n/a
28	ZNF384	chr6:35738109-35738196	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35737336-35737386	AG04449	skin:	fetal
2	chr6:35737336-35737386	HMEC	breast:	n/a
3	chr6:35737336-35737386	NT2-D1	testis:	n/a
4	chr6:35737336-35737386	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:35737336-35737386	GM12878	blood:	n/a
6	chr6:35737336-35737386	NB4	blood:	n/a
7	chr6:35737336-35737386	U87	brain:	n/a
8	chr6:35737336-35737386	RPTEC	kidney:	n/a
9	chr6:35737336-35737386	Jurkat	blood:	n/a
10	chr6:35737336-35737386	HUVEC	blood vessel:	n/a
11	chr6:35737336-35737386	HCF	heart:	n/a
12	chr6:35737336-35737386	NH-A	brain:	n/a
13	chr6:35737336-35737386	IMR90	lung:	fetal
14	chr6:35737336-35737386	HRPEpiC	eye:	n/a
15	chr6:35737336-35737386	HCPEpiC	choroid plexus:	n/a
16	chr6:35737336-35737386	ovcar-3	ovarian:	n/a
17	chr6:35737336-35737386	Caco-2	colon:	n/a
18	chr6:35737336-35737386	MCF10A-Er-Src	breast:	n/a
19	chr6:35737336-35737386	Hela-S3	cervix:	n/a
20	chr6:35737336-35737386	AoSMC	blood vessel:	n/a
21	chr6:35737336-35737386	H1-hESC	embryonic stem cell:	embryo
22	chr6:35737336-35737386	NHBE	bronchial:	n/a
23	chr6:35737336-35737386	SK-N-SH_RA	brain:	n/a
24	chr6:35737336-35737386	ProgFib	skin:	n/a
25	chr6:35737336-35737386	Hepatocyte	liver:	n/a
26	chr6:35737336-35737386	HRE	kidney:	n/a
27	chr6:35737336-35737386	PANC-1	pancreas:	n/a
28	chr6:35737336-35737386	BJ	skin:	n/a
29	chr6:35737336-35737386	HCM	heart:	n/a
30	chr6:35737336-35737386	GM19239	blood:	n/a
31	chr6:35737336-35737386	T-47D	breast:	n/a
32	chr6:35737336-35737386	GM12892	blood:	n/a
33	chr6:35737336-35737386	A549	lung:	n/a
34	chr6:35737336-35737386	HCT-116	colon:	n/a
35	chr6:35737336-35737386	HAEpiC	amniotic membrane:	n/a
36	chr6:35737336-35737386	ECC-1	luminal epithelium:	n/a
37	chr6:35737336-35737386	AG09309	skin:	n/a
38	chr6:35737336-35737386	LNCaP	prostate:	n/a
39	chr6:35737336-35737386	AG04450	lung:	fetal
40	chr6:35737336-35737386	GM12891	blood:	n/a
41	chr6:35737336-35737386	MCF-7	breast:	n/a
42	chr6:35737336-35737386	BE2_C	brain:	n/a
43	chr6:35737336-35737386	K562	blood:	n/a
44	chr6:35737336-35737386	CMK	blood:	n/a
45	chr6:35737336-35737386	SKMC	muscle:	n/a
46	chr6:35737336-35737386	SAEC	small airway:	n/a
47	chr6:35737336-35737386	HEK293	kidney:	embryo
48	chr6:35737336-35737386	SK-N-MC	brain:	n/a
49	chr6:35737336-35737386	AG09319	gingival:	n/a
50	chr6:35737336-35737386	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35732876..35736019-chr6:35742978..35745750,3	MCF-7	breast:

No data

Variant related genes	Relation type
CLPSL2	TF binding region
CLPSL2	CpG island
ENSG00000196748	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141717423	chr6:35734944-35734945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533796738	chr6:35734945-35734946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6457849	chr6:35734964-35734965	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79364917	chr6:35735081-35735082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573341976	chr6:35735138-35735139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543801498	chr6:35735141-35735142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562269751	chr6:35735169-35735170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577301700	chr6:35735234-35735235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546400186	chr6:35735263-35735264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188957716	chr6:35735280-35735281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73729791	chr6:35735282-35735283	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547018943	chr6:35735368-35735369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562368340	chr6:35735432-35735433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529336306	chr6:35735573-35735574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146337988	chr6:35735618-35735619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530135710	chr6:35735657-35735658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555285682	chr6:35735662-35735663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569391351	chr6:35735685-35735686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539911311	chr6:35735686-35735687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551554487	chr6:35735687-35735688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566505730	chr6:35735714-35735715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143148254	chr6:35735738-35735739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs57712979	chr6:35735740-35735741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374600523	chr6:35735749-35735750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74701495	chr6:35735756-35735757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139580901	chr6:35735767-35735768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141842566	chr6:35735810-35735811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs116867395	chr6:35735827-35735828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570426943	chr6:35735830-35735831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555705131	chr6:35735847-35735848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115184815	chr6:35735857-35735858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538974722	chr6:35735889-35735890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560184133	chr6:35735910-35735911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs193038555	chr6:35735993-35735994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112579611	chr6:35736000-35736001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540802343	chr6:35736033-35736034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2817058	chr6:35736069-35736070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529578987	chr6:35736070-35736071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386700153	chr6:35736078-35736079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182898120	chr6:35736079-35736080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115818106	chr6:35736100-35736101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551621292	chr6:35736104-35736105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374186984	chr6:35736117-35736118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201226567	chr6:35736127-35736128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150613692	chr6:35736132-35736133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527522458	chr6:35736250-35736251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548750558	chr6:35736252-35736253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187446737	chr6:35736262-35736263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7775702	chr6:35736293-35736294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541647361	chr6:35736301-35736302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35732400-35744200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:35732600-35736800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:35732600-35739000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:35733800-35738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:35736000-35737800	Enhancers	Placenta	Placenta
6	chr6:35736800-35737200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:35737800-35738000	Weak transcription	Placenta	Placenta
8	chr6:35737800-35738000	Flanking Active TSS	K562	blood
9	chr6:35737800-35738400	Enhancers	GM12878-XiMat	blood
10	chr6:35737800-35740000	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:35737800-35740200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:35738000-35738200	Active TSS	K562	blood
13	chr6:35738000-35740000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:35738200-35739800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:35738400-35738600	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:35738400-35739200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:35738400-35739400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:35738400-35739600	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:35738400-35740000	Enhancers	Primary B cells from cord blood	blood
20	chr6:35738600-35738800	Enhancers	GM12878-XiMat	blood
21	chr6:35738600-35739400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:35738800-35739000	Flanking Active TSS	GM12878-XiMat	blood
23	chr6:35739000-35739600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:35739000-35739600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:35739000-35739600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:35739000-35739600	Enhancers	GM12878-XiMat	blood
27	chr6:35739000-35740000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:35739200-35739400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:35739200-35739400	Enhancers	Placenta	Placenta
30	chr6:35739200-35739600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:35739400-35739600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:35739600-35744000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:35739600-35744200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:35740000-35744000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:35740000-35744200	Weak transcription	Primary B cells from cord blood	blood

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