Variant report

Variant	nsv482867
Chromosome Location	chr1:221855871-222040335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4797)
CpG islands
(count:2137)
Chromatin interactive
region (count:139)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:4797 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:221881286-221882591	K562	blood:	n/a	n/a
2	ARID3A	chr1:221890136-221890559	K562	blood:	n/a	n/a
3	ARID3A	chr1:221915240-221915875	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:221882852-221883046	K562	blood:	n/a	n/a
5	ARID3A	chr1:221938966-221939099	K562	blood:	n/a	n/a
6	ARID3A	chr1:221885446-221885985	K562	blood:	n/a	n/a
7	ARID3A	chr1:221934181-221934683	K562	blood:	n/a	n/a
8	ARID3A	chr1:221911312-221911334	K562	blood:	n/a	n/a
9	ARID3A	chr1:221916658-221917130	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:221912453-221912494	K562	blood:	n/a	n/a
11	ARID3A	chr1:221949949-221950242	K562	blood:	n/a	n/a
12	ARID3A	chr1:221891624-221892654	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:221888590-221889216	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:221896474-221897430	K562	blood:	n/a	n/a
15	ARID3A	chr1:221890589-221891014	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:221986454-221986504	K562	blood:	n/a	n/a
17	ARID3A	chr1:221884985-221884988	K562	blood:	n/a	n/a
18	ARID3A	chr1:221886604-221886642	K562	blood:	n/a	n/a
19	ARID3A	chr1:221915692-221915921	K562	blood:	n/a	n/a
20	ARID3A	chr1:221882356-221882712	HepG2	liver:	n/a	n/a
21	ARID3A	chr1:221899157-221899511	K562	blood:	n/a	n/a
22	ARID3A	chr1:222008539-222008794	HepG2	liver:	n/a	n/a
23	ARID3A	chr1:221887571-221888160	K562	blood:	n/a	n/a
24	ATF1	chr1:221934923-221935123	K562	blood:	n/a	n/a
25	ATF1	chr1:221861063-221861351	K562	blood:	n/a	n/a
26	ATF1	chr1:222023905-222024027	K562	blood:	n/a	n/a
27	ATF1	chr1:221890834-221891148	K562	blood:	n/a	n/a
28	ATF1	chr1:222019215-222019496	K562	blood:	n/a	n/a
29	ATF1	chr1:221949896-221950640	K562	blood:	n/a	n/a
30	ATF1	chr1:221983744-221983938	K562	blood:	n/a	n/a
31	ATF1	chr1:221885565-221885994	K562	blood:	n/a	n/a
32	ATF1	chr1:221861616-221861766	K562	blood:	n/a	n/a
33	ATF1	chr1:221888872-221889114	K562	blood:	n/a	n/a
34	ATF1	chr1:221887541-221888069	K562	blood:	n/a	n/a
35	ATF1	chr1:221864531-221864917	K562	blood:	n/a	n/a
36	ATF1	chr1:221896377-221897230	K562	blood:	n/a	n/a
37	ATF1	chr1:221899179-221899461	K562	blood:	n/a	n/a
38	ATF1	chr1:221910121-221910432	K562	blood:	n/a	n/a
39	ATF1	chr1:221880163-221880475	K562	blood:	n/a	n/a
40	ATF1	chr1:222000170-222000510	K562	blood:	n/a	n/a
41	ATF1	chr1:221970006-221970247	K562	blood:	n/a	n/a
42	ATF1	chr1:221890207-221890591	K562	blood:	n/a	n/a
43	ATF1	chr1:221986328-221986700	K562	blood:	n/a	n/a
44	ATF1	chr1:222003251-222003390	K562	blood:	n/a	n/a
45	ATF1	chr1:221959672-221959872	K562	blood:	n/a	n/a
46	ATF1	chr1:221914850-221915930	K562	blood:	n/a	n/a
47	ATF1	chr1:221881363-221881781	K562	blood:	n/a	n/a
48	ATF1	chr1:221862612-221863146	K562	blood:	n/a	n/a
49	ATF2	chr1:221916842-221917469	GM12878	blood:	n/a	n/a
50	ATF2	chr1:221950026-221951593	GM12878	blood:	n/a	n/a

(count:2137 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:221908735-221908785	NHDF-neo	bronchial:	n/a
2	chr1:221914771-221914821	Caco-2	colon:	n/a
3	chr1:221908735-221908785	NHDF-neo	bronchial:	n/a
4	chr1:221914771-221914821	Caco-2	colon:	n/a
5	chr1:221933302-221933352	HEEpiC	esophagus:	n/a
6	chr1:221915475-221915525	PrEC	prostate:	n/a
7	chr1:221915475-221915525	MCF10A-Er-Src	breast:	n/a
8	chr1:221916303-221916353	SKMC	muscle:	n/a
9	chr1:221915794-221915844	HCM	heart:	n/a
10	chr1:221908735-221908785	SAEC	small airway:	n/a
11	chr1:221920271-221920321	HRPEpiC	eye:	n/a
12	chr1:222003220-222003270	HL-60	blood:	n/a
13	chr1:221945814-221945864	U87	brain:	n/a
14	chr1:221915355-221915405	HUVEC	blood vessel:	n/a
15	chr1:221916303-221916353	GM12878	blood:	n/a
16	chr1:221915650-221915700	HEK293	kidney:	embryo
17	chr1:221886639-221886689	A549	lung:	n/a
18	chr1:221916107-221916157	U87	brain:	n/a
19	chr1:221915794-221915844	HUVEC	blood vessel:	n/a
20	chr1:221915794-221915844	U87	brain:	n/a
21	chr1:221915475-221915525	HL-60	blood:	n/a
22	chr1:221910211-221910261	BJ	skin:	n/a
23	chr1:221915286-221915336	SK-N-MC	brain:	n/a
24	chr1:222003220-222003270	ECC-1	luminal epithelium:	n/a
25	chr1:221915794-221915844	Hepatocyte	liver:	n/a
26	chr1:221915650-221915700	NHBE	bronchial:	n/a
27	chr1:221912247-221912297	HCM	heart:	n/a
28	chr1:222003220-222003270	HAEpiC	amniotic membrane:	n/a
29	chr1:221915355-221915405	Hepatocyte	liver:	n/a
30	chr1:221914771-221914821	HCT-116	colon:	n/a
31	chr1:221915739-221915789	GM19239	blood:	n/a
32	chr1:221915654-221915704	SKMC	muscle:	n/a
33	chr1:221915739-221915789	HMEC	breast:	n/a
34	chr1:221891307-221891357	SAEC	small airway:	n/a
35	chr1:221915355-221915405	SKMC	muscle:	n/a
36	chr1:221933302-221933352	H1-hESC	embryonic stem cell:	embryo
37	chr1:221915650-221915700	MCF10A-Er-Src	breast:	n/a
38	chr1:221915518-221915568	AG09309	skin:	n/a
39	chr1:221915355-221915405	AG09309	skin:	n/a
40	chr1:221915355-221915405	MCF10A-Er-Src	breast:	n/a
41	chr1:221908735-221908785	LNCaP	prostate:	n/a
42	chr1:221876616-221876666	GM12891	blood:	n/a
43	chr1:221870819-221870869	ovcar-3	ovarian:	n/a
44	chr1:221916662-221916712	A549	lung:	n/a
45	chr1:221876616-221876666	GM12892	blood:	n/a
46	chr1:221990385-221990435	SKMC	muscle:	n/a
47	chr1:221916662-221916712	HRPEpiC	eye:	n/a
48	chr1:222003220-222003270	HRCEpiC	kidney:	n/a
49	chr1:222039219-222039269	SK-N-MC	brain:	n/a
50	chr1:221916662-221916712	HCF	heart:	n/a

(count:139 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:221915958..221917862-chr1:221982281..221984311,2	MCF-7	breast:
2	chr1:221651194..221651783-chr1:221916549..221917370,2	MCF-7	breast:
3	chr1:221915958..221917862-chr1:221982281..221984311,2	MCF-7	breast:
4	chr1:221915847..221918268-chr1:222049176..222051061,2	K562	blood:
5	chr1:221856937..221858911-chr1:221881533..221884084,2	K562	blood:
6	chr1:221993297..221995497-chr1:221997155..221998693,2	K562	blood:
7	chr1:221882812..221884320-chr1:221889796..221891918,2	MCF-7	breast:
8	chr1:221909222..221912081-chr1:221948312..221951041,2	K562	blood:
9	chr1:221883604..221886254-chr1:221893154..221895130,3	K562	blood:
10	chr1:221863269..221865954-chr1:221885528..221887146,2	K562	blood:
11	chr1:222024775..222027186-chr1:222029281..222032631,4	MCF-7	breast:
12	chr1:221853501..221855745-chr1:221866739..221868318,2	K562	blood:
13	chr1:222025206..222026966-chr1:222027114..222029937,2	K562	blood:
14	chr1:221882812..221884320-chr1:221889796..221891918,2	MCF-7	breast:
15	chr1:221915763..221917609-chr1:221970690..221972444,2	MCF-7	breast:
16	chr1:221914501..221916176-chr1:221926215..221930061,3	K562	blood:
17	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:
18	chr1:222000712..222003289-chr1:222019673..222021864,2	K562	blood:
19	chr1:221899643..221902280-chr1:221903912..221907018,3	K562	blood:
20	chr1:221910475..221912061-chr1:221923373..221925676,2	MCF-7	breast:
21	chr1:221828900..221831688-chr1:221913117..221915245,2	K562	blood:
22	chr1:221915260..221918211-chr1:221931815..221934483,3	MCF-7	breast:
23	chr1:221878250..221880861-chr1:221881070..221882576,2	MCF-7	breast:
24	chr1:221965302..221967042-chr1:221979001..221981256,2	K562	blood:
25	chr1:221976813..221979723-chr1:221979739..221981450,2	MCF-7	breast:
26	chr1:221924699..221928428-chr1:221930772..221933949,5	K562	blood:
27	chr1:221915785..221917176-chr1:222059774..222060678,4	MCF-7	breast:
28	chr1:221913929..221915461-chr1:222008907..222010428,2	MCF-7	breast:
29	chr1:221950355..221953290-chr1:221957212..221959262,2	K562	blood:
30	chr1:221886064..221888475-chr1:221888570..221891136,3	K562	blood:
31	chr1:221856331..221858298-chr1:221862068..221864560,2	MCF-7	breast:
32	chr1:221902783..221905534-chr1:221906000..221908483,2	K562	blood:
33	chr1:221913498..221916410-chr1:221950188..221951845,2	K562	blood:
34	chr1:221896601..221898804-chr1:221901497..221903460,2	K562	blood:
35	chr1:221902184..221910150-chr1:221912477..221917248,16	K562	blood:
36	chr1:221887523..221889150-chr1:221891043..221892989,2	MCF-7	breast:
37	chr1:221914898..221917139-chr1:222150225..222152993,2	MCF-7	breast:
38	chr1:221887650..221891571-chr1:221892438..221898117,9	K562	blood:
39	chr1:221866342..221867259-chr15:44876515..44877015,2	MCF-7	breast:
40	chr1:221946788..221948739-chr1:221949122..221950675,2	K562	blood:
41	chr1:221889093..221891683-chr1:222160866..222163448,2	K562	blood:
42	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:
43	chr1:221993297..221995497-chr1:221997155..221998693,2	K562	blood:
44	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
45	chr1:221874687..221876447-chr1:221884456..221887339,2	MCF-7	breast:
46	chr1:222000712..222003289-chr1:222019673..222021864,2	K562	blood:
47	chr1:221915818..221916811-chr12:3067401..3068090,2	Hela-S3	cervix:
48	chr1:221975290..221977645-chr1:221996464..221998396,2	MCF-7	breast:
49	chr1:221915687..221916241-chr15:75931897..75932605,2	Hela-S3	cervix:
50	chr1:221921858..221923373-chr1:221925190..221928141,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUSP10-1	chr1:222001008-222001098	ENSG00000227925
2	lnc-DUSP10-1	chr1:222013532-222013795	NONHSAT009647
3	lnc-DUSP10-1	chr1:222007634-222007688	ENSG00000227925
4	lnc-DUSP10-1	chr1:222013878-222014008	ENSG00000227925
5	lnc-DUSP10-1	chr1:222013650-222013795	ENSG00000227925
6	lnc-DUSP10-1	chr1:222013878-222014040	NONHSAT009647

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DUSP10	hsa-miR-21-5p	chr1:221875460-221875481

Variant related genes	Relation type
ENSG00000227925	TF binding region
RNU6-403P	TF binding region
DUSP10	TF binding region
ENSG00000227925	CpG island
RNU6-403P	CpG island
DUSP10	CpG island
ENSG00000238042	chromatin interactions
ENSG00000227925	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000143507	chromatin interactions
ENSG00000234707	chromatin interactions
ENSG00000177971	chromatin interactions
ENSG00000104133	chromatin interactions
ENSG00000132432	chromatin interactions

Extended variants
information (count: 6862 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:6862 , 50 per page) page: 1 2 3 4 5 6 7 ... 138

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532973359	chr1:221855945-221855946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187824623	chr1:221855984-221855985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10863646	chr1:221855988-221855989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559422594	chr1:221856068-221856069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528523951	chr1:221856103-221856104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368618115	chr1:221856251-221856252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538538569	chr1:221856262-221856263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34849979	chr1:221856313-221856314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192948957	chr1:221856339-221856340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550440574	chr1:221856373-221856374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572372871	chr1:221856384-221856385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548652152	chr1:221856395-221856396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549664200	chr1:221856437-221856438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567946913	chr1:221856447-221856448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185070732	chr1:221856485-221856486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112291526	chr1:221856498-221856499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556915698	chr1:221856500-221856501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58909975	chr1:221856509-221856510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75499625	chr1:221856531-221856532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74337249	chr1:221856545-221856546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148071673	chr1:221856552-221856553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540020993	chr1:221856607-221856608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17010588	chr1:221856616-221856617	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573595283	chr1:221856622-221856623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189189217	chr1:221856626-221856627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2056289	chr1:221856654-221856655	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533270048	chr1:221856682-221856683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571124734	chr1:221856758-221856759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375963340	chr1:221856768-221856769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545457318	chr1:221856823-221856824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192477916	chr1:221856832-221856833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527922821	chr1:221856886-221856887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10863647	chr1:221856899-221856900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs568010039	chr1:221856953-221856954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115272247	chr1:221856968-221856969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185093091	chr1:221857034-221857035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568805713	chr1:221857054-221857055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539173405	chr1:221857070-221857071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117481519	chr1:221857075-221857076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79256415	chr1:221857101-221857102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533783455	chr1:221857104-221857105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555133039	chr1:221857129-221857130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573860353	chr1:221857176-221857177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572984508	chr1:221857194-221857195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189472894	chr1:221857221-221857222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141786303	chr1:221857233-221857234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12043339	chr1:221857243-221857244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545059492	chr1:221857248-221857249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139652013	chr1:221857287-221857288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560596752	chr1:221857334-221857335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4330 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221846000-221861000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:221846000-221869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:221856600-221857000	Enhancers	Stomach Mucosa	stomach
4	chr1:221856600-221858600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:221856800-221857800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:221857200-221857800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:221857200-221857800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:221857200-221858000	Enhancers	GM12878-XiMat	blood
9	chr1:221858000-221861200	Weak transcription	GM12878-XiMat	blood
10	chr1:221858200-221858800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:221858800-221859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:221858800-221860600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:221859200-221859400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:221859600-221860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:221859600-221860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:221860600-221861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:221860600-221862000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:221860600-221864600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:221860800-221863200	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:221860800-221863200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:221861000-221861200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:221861000-221861600	Enhancers	Fetal Muscle Leg	muscle
23	chr1:221861000-221861600	Enhancers	K562	blood
24	chr1:221861000-221861800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:221861000-221862000	Enhancers	Fetal Heart	heart
26	chr1:221861000-221862000	Enhancers	HSMMtube	muscle
27	chr1:221861000-221863400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:221861200-221861600	Enhancers	Psoas Muscle	Psoas
29	chr1:221861200-221861800	Enhancers	Left Ventricle	heart
30	chr1:221861200-221862000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:221861200-221862200	Enhancers	GM12878-XiMat	blood
32	chr1:221861400-221862800	Enhancers	Dnd41	blood
33	chr1:221861400-221863000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:221861400-221863000	Enhancers	Fetal Thymus	thymus
35	chr1:221861600-221863800	Weak transcription	Psoas Muscle	Psoas
36	chr1:221861600-221864800	Weak transcription	K562	blood
37	chr1:221861600-221875600	Weak transcription	Aorta	Aorta
38	chr1:221861800-221862200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:221861800-221875200	Weak transcription	Left Ventricle	heart
40	chr1:221862000-221862200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:221862000-221862400	Enhancers	Primary T cells from cord blood	blood
42	chr1:221862000-221864400	Weak transcription	Fetal Heart	heart
43	chr1:221862000-221868200	Weak transcription	HSMMtube	muscle
44	chr1:221862200-221862400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:221862200-221863200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:221862400-221862600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:221862400-221878600	Weak transcription	Primary T cells from cord blood	blood
48	chr1:221862600-221863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:221862800-221863400	Enhancers	HMEC	breast
50	chr1:221863000-221875000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links