Variant report

Variant	esv1824687
Chromosome Location	chr8:6825619-6890559
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	ATF1	chr8:6829807-6830004	K562	blood:	n/a	n/a
2	BACH1	chr8:6829927-6829940	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr8:6884319-6884505	K562	blood:	n/a	n/a
4	BHLHE40	chr8:6825706-6825903	K562	blood:	n/a	chr8:6825850-6825859 chr8:6825848-6825857 chr8:6825847-6825860 chr8:6825849-6825858 chr8:6825843-6825864 chr8:6825849-6825858
5	CEBPB	chr8:6882109-6882181	A549	lung:	n/a	n/a
6	CEBPB	chr8:6872820-6873018	HepG2	liver:	n/a	chr8:6872838-6872849 chr8:6872837-6872848
7	CEBPB	chr8:6882761-6882780	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:6889860-6890010	BE2_C	brain:	n/a	n/a
9	CTCF	chr8:6884260-6884410	GM12870	blood:	n/a	n/a
10	CTCF	chr8:6884380-6884530	NHLF	lung:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
11	CTCF	chr8:6884303-6884601	A549	lung:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
12	CTCF	chr8:6828045-6828050	Gliobla	brain:	n/a	n/a
13	CTCF	chr8:6876641-6876732	GM13976	blood:	n/a	n/a
14	CTCF	chr8:6884369-6884583	HepG2	liver:	n/a	chr8:6884451-6884461 chr8:6884448-6884469 chr8:6884446-6884464 chr8:6884447-6884463
15	CTCF	chr8:6828040-6828190	HepG2	liver:	n/a	n/a
16	CTCF	chr8:6884360-6884510	GM12869	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
17	CTCF	chr8:6884320-6884470	HMEC	breast:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
18	CTCF	chr8:6884315-6884564	NHEK	skin:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
19	CTCF	chr8:6884244-6884695	H1-hESC	embryonic stem cell:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
20	CTCF	chr8:6884380-6884530	GM12878	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
21	CTCF	chr8:6884400-6884550	Hela-S3	cervix:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
22	CTCF	chr8:6884360-6884547	SK-N-SH_RA	brain:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
23	CTCF	chr8:6884222-6884639	HCT-116	colon:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
24	CTCF	chr8:6884380-6884530	SK-N-SH_RA	brain:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
25	CTCF	chr8:6884400-6884550	A549	lung:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
26	CTCF	chr8:6884342-6884579	LNCaP	prostate:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
27	CTCF	chr8:6884318-6884565	MCF-7	breast:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
28	CTCF	chr8:6884420-6884570	HCPEpiC	choroid plexus:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
29	CTCF	chr8:6884400-6884550	HAc	cerebellar:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
30	CTCF	chr8:6884158-6884733	K562	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
31	CTCF	chr8:6884380-6884530	GM12871	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
32	CTCF	chr8:6884337-6884564	HUVEC	blood vessel:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
33	CTCF	chr8:6884259-6884568	MCF-7	breast:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
34	CTCF	chr8:6884380-6884530	WERI-Rb-1	eye:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
35	CTCF	chr8:6884380-6884530	NB4	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
36	CTCF	chr8:6884291-6884590	H1-hESC	embryonic stem cell:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
37	CTCF	chr8:6884420-6884570	HBMEC	blood vessel:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
38	CTCF	chr8:6884420-6884570	GM12873	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
39	CTCF	chr8:6827929-6828105	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:6830796-6830848	Lung_OC	lung:	n/a	n/a
41	CTCF	chr8:6884340-6884490	HCM	heart:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
42	CTCF	chr8:6829420-6829509	LNCaP	prostate:	n/a	n/a
43	CTCF	chr8:6884400-6884550	GM12869	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
44	CTCF	chr8:6884358-6884551	GM10248	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
45	CTCF	chr8:6827996-6828116	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr8:6884360-6884510	HMEC	breast:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
47	CTCF	chr8:6884360-6884510	HFF-Myc	foreskin:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
48	CTCF	chr8:6884348-6884535	Pancreas_OC	pancreas:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
49	CTCF	chr8:6884360-6884510	SAEC	small airway:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
50	CTCF	chr8:6884250-6884635	H1-hESC	embryonic stem cell:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6828103-6828153	MCF-7	breast:	n/a
2	chr8:6828103-6828153	MCF-7	breast:	n/a
3	chr8:6828103-6828153	RPTEC	kidney:	n/a
4	chr8:6838024-6838074	HAEpiC	amniotic membrane:	n/a
5	chr8:6827814-6827864	SAEC	small airway:	n/a
6	chr8:6876155-6876205	HIPEpiC	eye:	n/a
7	chr8:6876155-6876205	HUVEC	blood vessel:	n/a
8	chr8:6873754-6873804	H1-hESC	embryonic stem cell:	embryo
9	chr8:6837932-6837982	MCF-7	breast:	n/a
10	chr8:6875661-6875711	SK-N-MC	brain:	n/a
11	chr8:6827814-6827864	ProgFib	skin:	n/a
12	chr8:6873754-6873804	RPTEC	kidney:	n/a
13	chr8:6827800-6827850	Caco-2	colon:	n/a
14	chr8:6876155-6876205	SK-N-MC	brain:	n/a
15	chr8:6838024-6838074	AG10803	skin:	n/a
16	chr8:6875661-6875711	SAEC	small airway:	n/a
17	chr8:6876695-6876745	AG04449	skin:	fetal
18	chr8:6827814-6827864	AG04449	skin:	fetal
19	chr8:6826392-6826442	HCPEpiC	choroid plexus:	n/a
20	chr8:6875661-6875711	PFSK-1	brain:	n/a
21	chr8:6876781-6876831	K562	blood:	n/a
22	chr8:6837932-6837982	HNPCEpiC	eye:	n/a
23	chr8:6826392-6826442	ProgFib	skin:	n/a
24	chr8:6875661-6875711	HAEpiC	amniotic membrane:	n/a
25	chr8:6876695-6876745	HIPEpiC	eye:	n/a
26	chr8:6827814-6827864	BJ	skin:	n/a
27	chr8:6826392-6826442	AG04449	skin:	fetal
28	chr8:6837932-6837982	ProgFib	skin:	n/a
29	chr8:6828103-6828153	HCM	heart:	n/a
30	chr8:6876781-6876831	HUVEC	blood vessel:	n/a
31	chr8:6876155-6876205	AoSMC	blood vessel:	n/a
32	chr8:6876695-6876745	AG09319	gingival:	n/a
33	chr8:6828103-6828153	PFSK-1	brain:	n/a
34	chr8:6873754-6873804	T-47D	breast:	n/a
35	chr8:6837932-6837982	HL-60	blood:	n/a
36	chr8:6876155-6876205	PANC-1	pancreas:	n/a
37	chr8:6875661-6875711	ProgFib	skin:	n/a
38	chr8:6876695-6876745	SKMC	muscle:	n/a
39	chr8:6876155-6876205	HL-60	blood:	n/a
40	chr8:6838024-6838074	HCM	heart:	n/a
41	chr8:6876695-6876745	NH-A	brain:	n/a
42	chr8:6876781-6876831	HMEC	breast:	n/a
43	chr8:6873754-6873804	HCF	heart:	n/a
44	chr8:6827800-6827850	PANC-1	pancreas:	n/a
45	chr8:6827800-6827850	NHBE	bronchial:	n/a
46	chr8:6827800-6827850	A549	lung:	n/a
47	chr8:6828103-6828153	AoSMC	blood vessel:	n/a
48	chr8:6876781-6876831	A549	lung:	n/a
49	chr8:6875661-6875711	AoSMC	blood vessel:	n/a
50	chr8:6827800-6827850	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6876740..6878297-chr8:6880024..6881649,2	K562	blood:
2	chr8:6786179..6786989-chr8:6884046..6884889,4	MCF-7	breast:
3	chr8:6876740..6878297-chr8:6880024..6881649,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA1-1	chr8:6825663-6825775	NONHSAT124803
2	lnc-DEFA3-2	chr8:6886839-6887011	NONHSAT124808
3	lnc-DEFA1-1	chr8:6825663-6825769	NONHSAT124802
4	lnc-DEFA3-2	chr8:6886123-6886250	NONHSAT124808
5	lnc-DEFA1B-1	chr8:6845622-6845808	NONHSAT124804
6	lnc-DEFA1B-1	chr8:6844700-6844945	NONHSAT124804
7	lnc-DEFA1-1	chr8:6826461-6826635	NONHSAT124803
8	lnc-DEFA1-1	chr8:6826452-6826635	NONHSAT124802
9	lnc-DEFA1B-1	chr8:6847181-6847243	NONHSAT124804

Variant related genes	Relation type
DEFA1B	TF binding region
DEFT1P2	TF binding region
DEFA11P	TF binding region
DEFA10P	TF binding region
DEFA1	TF binding region
DEFA3	TF binding region
DEFT1P	TF binding region
DEFA1B	CpG island
DEFT1P2	CpG island
DEFA11P	CpG island
DEFA10P	CpG island
DEFA1	CpG island
DEFA3	CpG island
DEFT1P	CpG island

Extended variants
information (count: 1715 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:1715 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181444926	chr8:6825629-6825630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184631703	chr8:6825655-6825656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143020111	chr8:6825658-6825659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531128559	chr8:6825661-6825662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117582969	chr8:6825671-6825672	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567330841	chr8:6825678-6825679	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536285071	chr8:6825679-6825680	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs547066163	chr8:6825680-6825681	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs76176806	chr8:6825688-6825689	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs189750721	chr8:6825718-6825719	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181855629	chr8:6825722-6825723	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs186047291	chr8:6825725-6825726	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs535313882	chr8:6825740-6825741	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs115726153	chr8:6825743-6825744	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs372482670	chr8:6825757-6825758	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs36110831	chr8:6825770-6825771	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs139202523	chr8:6825785-6825786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542306678	chr8:6825794-6825795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559379377	chr8:6825810-6825811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572888528	chr8:6825852-6825853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149920893	chr8:6825853-6825854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549610135	chr8:6825854-6825855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531066105	chr8:6825863-6825864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13278390	chr8:6825877-6825878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13270884	chr8:6825885-6825886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13267882	chr8:6825891-6825892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546710375	chr8:6825897-6825898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73195997	chr8:6825913-6825914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566922761	chr8:6825958-6825959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532520579	chr8:6825960-6825961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13278672	chr8:6825975-6825976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549190813	chr8:6825996-6825997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13271399	chr8:6825998-6825999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13270339	chr8:6826010-6826011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191225676	chr8:6826012-6826013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13271426	chr8:6826025-6826026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2738144	chr8:6826043-6826044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13270374	chr8:6826050-6826051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552712817	chr8:6826056-6826057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13278935	chr8:6826057-6826058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181781851	chr8:6826060-6826061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544784192	chr8:6826074-6826075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71525777	chr8:6826081-6826082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558268919	chr8:6826084-6826085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2978947	chr8:6826089-6826090	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148631801	chr8:6826094-6826095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71511146	chr8:6826099-6826100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71535994	chr8:6826115-6826116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71525778	chr8:6826140-6826141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370098457	chr8:6826152-6826153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Behcet''s disease	22219625	CNVD
Crohn''s disease	21701837	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6794600-6829200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:6822800-6830000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:6824600-6828200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:6824800-6829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:6826400-6826600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:6826400-6826800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr8:6826400-6826800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:6826400-6826800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:6826400-6826800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:6826400-6827000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr8:6826600-6826800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr8:6828200-6828600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:6828200-6828600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:6828400-6828600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:6828600-6829600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:6829200-6829400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:6829200-6829400	Enhancers	Right Ventricle	heart
18	chr8:6829200-6830200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:6829600-6830000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:6829600-6830000	Enhancers	Fetal Brain Male	brain
21	chr8:6829600-6830200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:6829800-6830000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:6830000-6833000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:6831000-6831200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:6833000-6833600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:6833600-6837800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:6837800-6838200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:6838200-6840600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:6840600-6841800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:6856800-6857400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:6863200-6866800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:6867000-6871800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:6871800-6873000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:6872400-6872600	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:6873000-6873400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:6873400-6884600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:6879800-6881200	Enhancers	Dnd41	blood
38	chr8:6881200-6881400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
39	chr8:6882000-6882400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:6882200-6882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:6883200-6883400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:6883800-6884000	Bivalent Enhancer	Fetal Intestine Large	intestine
43	chr8:6884200-6884800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:6884400-6884600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:6884600-6885000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr8:6884600-6885000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr8:6884600-6885000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:6886800-6887000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links