Variant report

Variant	esv1798922
Chromosome Location	chr6:164257563-164298780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:306)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:164281592-164282187	K562	blood:	n/a	n/a
2	ATF1	chr6:164281584-164282178	K562	blood:	n/a	n/a
3	ATF3	chr6:164281774-164282273	K562	blood:	n/a	n/a
4	BACH1	chr6:164287522-164287715	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:164262739-164263320	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr6:164281464-164282182	K562	blood:	n/a	n/a
7	BHLHE40	chr6:164286434-164286441	K562	blood:	n/a	n/a
8	BHLHE40	chr6:164281713-164282092	K562	blood:	n/a	n/a
9	BHLHE40	chr6:164258750-164259103	K562	blood:	n/a	n/a
10	CBX3	chr6:164281436-164282197	K562	blood:	n/a	n/a
11	CBX3	chr6:164272409-164272781	K562	blood:	n/a	n/a
12	CBX3	chr6:164281610-164282125	K562	blood:	n/a	n/a
13	CBX3	chr6:164271979-164272240	K562	blood:	n/a	n/a
14	CBX3	chr6:164258743-164259098	K562	blood:	n/a	n/a
15	CCNT2	chr6:164281628-164282092	K562	blood:	n/a	n/a
16	CEBPB	chr6:164293460-164293709	H1-hESC	embryonic stem cell:	n/a	chr6:164293552-164293565
17	CEBPB	chr6:164293356-164293761	MCF-7	breast:	n/a	chr6:164293552-164293565
18	CEBPB	chr6:164293387-164293812	MCF-7	breast:	n/a	chr6:164293552-164293565
19	CEBPB	chr6:164291642-164291656	K562	blood:	n/a	n/a
20	CEBPB	chr6:164281449-164282256	K562	blood:	n/a	chr6:164282032-164282045 chr6:164282032-164282043 chr6:164281640-164281648
21	CEBPB	chr6:164281845-164282251	K562	blood:	n/a	chr6:164282032-164282045 chr6:164282032-164282043
22	CEBPB	chr6:164293155-164294252	IMR90	lung:	n/a	chr6:164293552-164293565
23	CEBPB	chr6:164281842-164282152	K562	blood:	n/a	chr6:164282032-164282045 chr6:164282032-164282043
24	CEBPB	chr6:164281409-164282261	IMR90	lung:	n/a	chr6:164282032-164282045 chr6:164282032-164282043 chr6:164281640-164281648
25	CEBPB	chr6:164281877-164282185	HepG2	liver:	n/a	chr6:164282032-164282045 chr6:164282032-164282043
26	CEBPB	chr6:164293461-164293744	Hela-S3	cervix:	n/a	chr6:164293552-164293565
27	CEBPB	chr6:164291512-164291796	HepG2	liver:	n/a	chr6:164291639-164291650
28	CEBPD	chr6:164281475-164282262	K562	blood:	n/a	n/a
29	CEBPD	chr6:164281457-164282260	K562	blood:	n/a	n/a
30	CREB1	chr6:164281459-164282225	K562	blood:	n/a	n/a
31	CREB1	chr6:164281673-164282257	K562	blood:	n/a	n/a
32	CTCF	chr6:164287400-164287550	WERI-Rb-1	eye:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
33	CTCF	chr6:164287420-164287570	HRE	kidney:	n/a	n/a
34	CTCF	chr6:164288600-164288750	HepG2	liver:	n/a	chr6:164288636-164288645
35	CTCF	chr6:164287470-164287473	GM12891	blood:	n/a	n/a
36	CTCF	chr6:164287340-164287490	HBMEC	blood vessel:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
37	CTCF	chr6:164287354-164287454	MCF-7	breast:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
38	CTCF	chr6:164287340-164287490	HEK293	kidney:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
39	CTCF	chr6:164291808-164291866	GM10248	blood:	n/a	n/a
40	CTCF	chr6:164287383-164287445	MCF-7	breast:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
41	CTCF	chr6:164287415-164287445	HepG2	liver:	n/a	n/a
42	CTCF	chr6:164279963-164280027	GM20000	blood:	n/a	n/a
43	CTCF	chr6:164287366-164287424	Medullo	brain:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
44	CTCF	chr6:164287320-164287470	WERI-Rb-1	eye:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
45	CTCF	chr6:164287260-164287575	K562	blood:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
46	CTCF	chr6:164293740-164293890	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr6:164287345-164287483	MCF-7	breast:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
48	CTCF	chr6:164281880-164282030	BE2_C	brain:	n/a	n/a
49	CTCF	chr6:164287306-164287504	K562	blood:	n/a	chr6:164287402-164287420 chr6:164287404-164287417
50	CTCF	chr6:164288500-164288650	GM12864	blood:	n/a	chr6:164288636-164288645

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:164288623-164288673	PFSK-1	brain:	n/a
2	chr6:164288623-164288673	PFSK-1	brain:	n/a
3	chr6:164281903-164281953	GM12878	blood:	n/a
4	chr6:164281903-164281953	HEEpiC	esophagus:	n/a
5	chr6:164294790-164294840	HCT-116	colon:	n/a
6	chr6:164281903-164281953	HepG2	liver:	n/a
7	chr6:164258843-164258893	HRE	kidney:	n/a
8	chr6:164294790-164294840	AG09319	gingival:	n/a
9	chr6:164294790-164294840	SK-N-SH	brain:	n/a
10	chr6:164288814-164288864	GM12892	blood:	n/a
11	chr6:164281903-164281953	Hepatocyte	liver:	n/a
12	chr6:164281903-164281953	SK-N-SH_RA	brain:	n/a
13	chr6:164294790-164294840	HEK293	kidney:	embryo
14	chr6:164294790-164294840	NHBE	bronchial:	n/a
15	chr6:164258843-164258893	HL-60	blood:	n/a
16	chr6:164288623-164288673	HCT-116	colon:	n/a
17	chr6:164288623-164288673	Caco-2	colon:	n/a
18	chr6:164258843-164258893	ovcar-3	ovarian:	n/a
19	chr6:164294790-164294840	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:164288623-164288673	IMR90	lung:	fetal
21	chr6:164258843-164258893	GM19239	blood:	n/a
22	chr6:164288814-164288864	NT2-D1	testis:	n/a
23	chr6:164281903-164281953	CMK	blood:	n/a
24	chr6:164258843-164258893	AG09319	gingival:	n/a
25	chr6:164258843-164258893	AG10803	skin:	n/a
26	chr6:164258843-164258893	SK-N-SH	brain:	n/a
27	chr6:164294790-164294840	LNCaP	prostate:	n/a
28	chr6:164281903-164281953	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:164288814-164288864	ECC-1	luminal epithelium:	n/a
30	chr6:164294790-164294840	K562	blood:	n/a
31	chr6:164288814-164288864	HEK293	kidney:	embryo
32	chr6:164288814-164288864	AG10803	skin:	n/a
33	chr6:164288814-164288864	NH-A	brain:	n/a
34	chr6:164258843-164258893	IMR90	lung:	fetal
35	chr6:164281903-164281953	ProgFib	skin:	n/a
36	chr6:164288623-164288673	BJ	skin:	n/a
37	chr6:164294790-164294840	HEEpiC	esophagus:	n/a
38	chr6:164288814-164288864	Hela-S3	cervix:	n/a
39	chr6:164294790-164294840	Hela-S3	cervix:	n/a
40	chr6:164288623-164288673	LNCaP	prostate:	n/a
41	chr6:164288814-164288864	ovcar-3	ovarian:	n/a
42	chr6:164288623-164288673	GM12878	blood:	n/a
43	chr6:164294790-164294840	HMEC	breast:	n/a
44	chr6:164288623-164288673	HL-60	blood:	n/a
45	chr6:164288814-164288864	SKMC	muscle:	n/a
46	chr6:164258843-164258893	HRPEpiC	eye:	n/a
47	chr6:164281903-164281953	PrEC	prostate:	n/a
48	chr6:164288814-164288864	SAEC	small airway:	n/a
49	chr6:164258843-164258893	RPTEC	kidney:	n/a
50	chr6:164288623-164288673	AoSMC	blood vessel:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:164285706..164289029-chr6:164295811..164300012,3	K562	blood:
2	chr6:164268990..164271906-chr6:164280285..164282030,2	K562	blood:
3	chr6:164286588..164288806-chr6:164290710..164292692,2	K562	blood:
4	chr6:164291137..164293933-chr6:164296625..164298469,2	K562	blood:
5	chr6:164289470..164292068-chr6:164292699..164294741,3	K562	blood:
6	chr6:164285706..164289029-chr6:164295811..164300012,3	K562	blood:
7	chr6:164269723..164272206-chr6:164272382..164274098,2	K562	blood:
8	chr6:164269723..164272206-chr6:164272382..164274098,2	K562	blood:
9	chr6:164242074..164244714-chr6:164257736..164260576,2	K562	blood:
10	chr6:164197154..164198920-chr6:164280732..164282749,2	K562	blood:
11	chr6:164286588..164288806-chr6:164290710..164292692,2	K562	blood:
12	chr6:164253956..164257557-chr6:164262191..164265409,3	K562	blood:
13	chr6:164289470..164292068-chr6:164292699..164294741,3	K562	blood:
14	chr6:164277472..164279929-chr6:164282538..164284632,2	K562	blood:
15	chr6:164280371..164282410-chr6:164287634..164290402,4	K562	blood:
16	chr6:164268990..164271906-chr6:164280285..164282030,2	K562	blood:
17	chr6:164280371..164282410-chr6:164287634..164290402,4	K562	blood:
18	chr6:164251847..164253881-chr6:164255463..164257688,2	K562	blood:
19	chr6:164291137..164293933-chr6:164296625..164298469,2	K562	blood:
20	chr6:164281502..164283486-chr6:164284989..164286680,2	K562	blood:
21	chr6:164277472..164279929-chr6:164282538..164284632,2	K562	blood:
22	chr6:164281502..164283486-chr6:164284989..164286680,2	K562	blood:
23	chr6:164290619..164291550-chr6:164306342..164306918,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QKI-9	chr6:164261593-164261882	NONHSAT115978

No data

Variant related genes	Relation type
RN7SL366P	TF binding region
RN7SL366P	CpG island

Extended variants
information (count: 1359 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1359 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9355441	chr6:164257563-164257564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188054427	chr6:164257586-164257587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530323377	chr6:164257593-164257594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17538655	chr6:164257602-164257603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566710120	chr6:164257682-164257683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539147421	chr6:164257710-164257711	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552357447	chr6:164257785-164257786	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545452511	chr6:164257795-164257796	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373211360	chr6:164257796-164257797	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs569360557	chr6:164257797-164257798	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs192488521	chr6:164257914-164257915	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554802667	chr6:164257921-164257922	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563942676	chr6:164257943-164257944	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574826658	chr6:164257945-164257946	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184949540	chr6:164257969-164257970	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs16895397	chr6:164258022-164258023	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576735054	chr6:164258057-164258058	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs545898061	chr6:164258118-164258119	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540470005	chr6:164258120-164258121	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187353570	chr6:164258129-164258130	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575709865	chr6:164258147-164258148	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs192243456	chr6:164258149-164258150	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562807574	chr6:164258178-164258179	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113495924	chr6:164258179-164258180	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs58679723	chr6:164258198-164258199	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201673981	chr6:164258202-164258203	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs12529050	chr6:164258243-164258244	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs1555228	chr6:164258269-164258270	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs148041531	chr6:164258280-164258281	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11965695	chr6:164258333-164258334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532437006	chr6:164258377-164258378	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373016742	chr6:164258399-164258400	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs552524515	chr6:164258431-164258432	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs561817847	chr6:164258457-164258458	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs569423261	chr6:164258488-164258489	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531833011	chr6:164258489-164258490	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs78324968	chr6:164258544-164258545	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs548413936	chr6:164258565-164258566	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs568216407	chr6:164258574-164258575	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs1555229	chr6:164258597-164258598	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140820248	chr6:164258624-164258625	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs570707841	chr6:164258632-164258633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539090048	chr6:164258639-164258640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555736043	chr6:164258657-164258658	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs35482792	chr6:164258660-164258661	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111569367	chr6:164258668-164258669	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs150177450	chr6:164258692-164258693	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574902760	chr6:164258716-164258717	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs540808440	chr6:164258751-164258752	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs560653580	chr6:164258784-164258785	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164250000-164258200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:164255800-164258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:164256000-164258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:164256800-164258000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:164256800-164258200	Enhancers	Brain Germinal Matrix	brain
6	chr6:164256800-164260600	Enhancers	Fetal Heart	heart
7	chr6:164257000-164258200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:164257000-164258800	Weak transcription	Right Ventricle	heart
9	chr6:164257400-164258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:164257600-164257800	Enhancers	Brain Hippocampus Middle	brain
11	chr6:164257600-164258000	Enhancers	Brain Cingulate Gyrus	brain
12	chr6:164257600-164258200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:164257600-164258200	Enhancers	Fetal Brain Female	brain
14	chr6:164257600-164258600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:164257600-164258800	Enhancers	Fetal Lung	lung
16	chr6:164257600-164258800	Enhancers	Fetal Stomach	stomach
17	chr6:164257800-164258000	Enhancers	Brain Substantia Nigra	brain
18	chr6:164257800-164258200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:164257800-164258200	Enhancers	Brain Anterior Caudate	brain
20	chr6:164257800-164258200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr6:164257800-164258200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:164257800-164258400	Enhancers	Fetal Brain Male	brain
23	chr6:164257800-164258600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:164257800-164259200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:164257800-164259600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:164258000-164258200	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr6:164258000-164258400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:164258000-164258600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:164258000-164258600	Enhancers	Fetal Muscle Leg	muscle
30	chr6:164258000-164258800	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:164258200-164258400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:164258200-164258400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:164258200-164258400	Active TSS	Brain Angular Gyrus	brain
34	chr6:164258200-164258400	Flanking Active TSS	Fetal Brain Female	brain
35	chr6:164258200-164258400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:164258200-164258400	Bivalent Enhancer	A549	lung
37	chr6:164258200-164258600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:164258200-164258600	Active TSS	Brain Germinal Matrix	brain
39	chr6:164258200-164258800	Active TSS	Brain Hippocampus Middle	brain
40	chr6:164258200-164258800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:164258200-164258800	Enhancers	Colon Smooth Muscle	Colon
42	chr6:164258200-164259200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:164258200-164259200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr6:164258200-164259400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:164258200-164259400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:164258200-164259400	Active TSS	Brain Anterior Caudate	brain
47	chr6:164258200-164259400	Active TSS	Brain Substantia Nigra	brain
48	chr6:164258400-164258600	Enhancers	Adipose Nuclei	Adipose
49	chr6:164258400-164258600	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr6:164258400-164258600	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links