Variant report

Variant	nsv527863
Chromosome Location	chr1:212617423-212700618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2087)
CpG islands
(count:1224)
Chromatin interactive
region (count:181)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2087 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:212671000-212671162	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:212659393-212659732	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:212691820-212692145	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:212687448-212687508	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:212672140-212672462	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:212629322-212629574	HepG2	liver:	n/a	n/a
7	ATF1	chr1:212658290-212658394	K562	blood:	n/a	n/a
8	ATF1	chr1:212659036-212659611	K562	blood:	n/a	n/a
9	ATF1	chr1:212699247-212699254	K562	blood:	n/a	n/a
10	ATF1	chr1:212661868-212662226	K562	blood:	n/a	n/a
11	ATF1	chr1:212668358-212668386	K562	blood:	n/a	n/a
12	ATF1	chr1:212687433-212687668	K562	blood:	n/a	n/a
13	ATF2	chr1:212650470-212650862	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr1:212650373-212650759	GM12878	blood:	n/a	n/a
15	ATF2	chr1:212661770-212662307	GM12878	blood:	n/a	n/a
16	ATF2	chr1:212661748-212662394	GM12878	blood:	n/a	n/a
17	ATF2	chr1:212686004-212686299	GM12878	blood:	n/a	n/a
18	ATF2	chr1:212650336-212650867	GM12878	blood:	n/a	n/a
19	ATF2	chr1:212671636-212672177	GM12878	blood:	n/a	n/a
20	ATF3	chr1:212650361-212650925	A549	lung:	n/a	n/a
21	ATF3	chr1:212661819-212662229	K562	blood:	n/a	chr1:212662175-212662184 chr1:212662044-212662057
22	ATF3	chr1:212661716-212662272	A549	lung:	n/a	chr1:212662175-212662184 chr1:212662044-212662057
23	ATF3	chr1:212659231-212659657	K562	blood:	n/a	n/a
24	ATF3	chr1:212658110-212658687	A549	lung:	n/a	n/a
25	ATF3	chr1:212659232-212659872	A549	lung:	n/a	n/a
26	ATF3	chr1:212686320-212686848	A549	lung:	n/a	n/a
27	ATF3	chr1:212659306-212659554	K562	blood:	n/a	n/a
28	ATF3	chr1:212656204-212656383	K562	blood:	n/a	n/a
29	BATF	chr1:212686080-212686402	GM12878	blood:	n/a	n/a
30	BATF	chr1:212686068-212686364	GM12878	blood:	n/a	n/a
31	BCL3	chr1:212659159-212659906	A549	lung:	n/a	n/a
32	BCL3	chr1:212661631-212662423	A549	lung:	n/a	chr1:212662097-212662106
33	BCL3	chr1:212659099-212659996	A549	lung:	n/a	n/a
34	BCL3	chr1:212658044-212658583	A549	lung:	n/a	n/a
35	BCL3	chr1:212661706-212662421	A549	lung:	n/a	chr1:212662097-212662106
36	BCL3	chr1:212686313-212686933	A549	lung:	n/a	n/a
37	BCL3	chr1:212671595-212671938	GM12878	blood:	n/a	chr1:212671824-212671831
38	BCL3	chr1:212661819-212662294	GM12878	blood:	n/a	chr1:212662097-212662106
39	BCL3	chr1:212658000-212658641	A549	lung:	n/a	n/a
40	BCL3	chr1:212686348-212686927	A549	lung:	n/a	n/a
41	BCL3	chr1:212655728-212656536	A549	lung:	n/a	n/a
42	BCLAF1	chr1:212650363-212650872	GM12878	blood:	n/a	chr1:212650705-212650714
43	BCLAF1	chr1:212650451-212650848	GM12878	blood:	n/a	chr1:212650705-212650714
44	BHLHE40	chr1:212661999-212662260	HepG2	liver:	n/a	n/a
45	BHLHE40	chr1:212631302-212631304	GM12878	blood:	n/a	n/a
46	BHLHE40	chr1:212671761-212671817	GM12878	blood:	n/a	n/a
47	BHLHE40	chr1:212629194-212629545	K562	blood:	n/a	n/a
48	BHLHE40	chr1:212656184-212656438	GM12878	blood:	n/a	n/a
49	BHLHE40	chr1:212691807-212692219	HepG2	liver:	n/a	n/a
50	BHLHE40	chr1:212691901-212692202	K562	blood:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212619380-212619430	HEK293	kidney:	embryo
2	chr1:212619380-212619430	RPTEC	kidney:	n/a
3	chr1:212688762-212688812	GM06990	blood:	n/a
4	chr1:212626474-212626524	Hepatocyte	liver:	n/a
5	chr1:212619380-212619430	HEK293	kidney:	embryo
6	chr1:212619380-212619430	RPTEC	kidney:	n/a
7	chr1:212688762-212688812	GM06990	blood:	n/a
8	chr1:212626474-212626524	Hepatocyte	liver:	n/a
9	chr1:212662017-212662067	HCPEpiC	choroid plexus:	n/a
10	chr1:212688417-212688467	HRCEpiC	kidney:	n/a
11	chr1:212688762-212688812	HCT-116	colon:	n/a
12	chr1:212662017-212662067	Hepatocyte	liver:	n/a
13	chr1:212688447-212688497	ProgFib	skin:	n/a
14	chr1:212619763-212619813	SAEC	small airway:	n/a
15	chr1:212692190-212692240	SK-N-SH	brain:	n/a
16	chr1:212688417-212688467	HNPCEpiC	eye:	n/a
17	chr1:212635804-212635854	BJ	skin:	n/a
18	chr1:212619380-212619430	GM06990	blood:	n/a
19	chr1:212671907-212671957	HAEpiC	amniotic membrane:	n/a
20	chr1:212688417-212688467	BJ	skin:	n/a
21	chr1:212688916-212688966	IMR90	lung:	fetal
22	chr1:212620748-212620798	HRE	kidney:	n/a
23	chr1:212619380-212619430	SKMC	muscle:	n/a
24	chr1:212658636-212658686	ProgFib	skin:	n/a
25	chr1:212688762-212688812	Caco-2	colon:	n/a
26	chr1:212656756-212656806	RPTEC	kidney:	n/a
27	chr1:212698918-212698968	RPTEC	kidney:	n/a
28	chr1:212671907-212671957	Hepatocyte	liver:	n/a
29	chr1:212620748-212620798	HRCEpiC	kidney:	n/a
30	chr1:212688997-212689047	NT2-D1	testis:	n/a
31	chr1:212687842-212687892	HUVEC	blood vessel:	n/a
32	chr1:212619380-212619430	HUVEC	blood vessel:	n/a
33	chr1:212671907-212671957	HRCEpiC	kidney:	n/a
34	chr1:212619763-212619813	BJ	skin:	n/a
35	chr1:212635804-212635854	HCPEpiC	choroid plexus:	n/a
36	chr1:212656756-212656806	T-47D	breast:	n/a
37	chr1:212688997-212689047	HRE	kidney:	n/a
38	chr1:212688997-212689047	HUVEC	blood vessel:	n/a
39	chr1:212688997-212689047	IMR90	lung:	fetal
40	chr1:212688916-212688966	HCF	heart:	n/a
41	chr1:212688447-212688497	PrEC	prostate:	n/a
42	chr1:212688447-212688497	AoSMC	blood vessel:	n/a
43	chr1:212688762-212688812	PFSK-1	brain:	n/a
44	chr1:212684363-212684413	U87	brain:	n/a
45	chr1:212688447-212688497	HNPCEpiC	eye:	n/a
46	chr1:212619763-212619813	HEEpiC	esophagus:	n/a
47	chr1:212658636-212658686	NHDF-neo	bronchial:	n/a
48	chr1:212656756-212656806	HRPEpiC	eye:	n/a
49	chr1:212692190-212692240	GM12878	blood:	n/a
50	chr1:212656756-212656806	Caco-2	colon:	n/a

(count:181 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:212690257..212692182-chr1:212779999..212783511,3	K562	blood:
2	chr1:212657477..212661646-chr1:212730263..212734721,4	K562	blood:
3	chr1:212661275..212664884-chr1:212673911..212677045,3	K562	blood:
4	chr1:212650191..212651259-chr1:212838184..212839254,5	K562	blood:
5	chr1:212643861..212648443-chr1:212780343..212784958,9	K562	blood:
6	chr1:212642565..212644909-chr1:212645772..212647720,2	K562	blood:
7	chr1:212641315..212643448-chr1:212775149..212777804,2	K562	blood:
8	chr1:212643908..212648932-chr1:212649184..212654651,9	K562	blood:
9	chr1:211871766..211872437-chr1:212628934..212629488,2	K562	blood:
10	chr1:212646367..212648750-chr1:212657386..212659832,2	K562	blood:
11	chr1:212650603..212651105-chr1:212842126..212842894,2	K562	blood:
12	chr1:212243790..212245029-chr1:212629216..212630156,6	K562	blood:
13	chr1:212651824..212654736-chr1:212678210..212680308,2	K562	blood:
14	chr1:212667460..212673417-chr1:212776098..212784429,11	K562	blood:
15	chr1:212690794..212693307-chr1:212697888..212699429,2	K562	blood:
16	chr1:212660151..212661692-chr1:212667519..212669650,2	K562	blood:
17	chr1:212700413..212703212-chr1:212780058..212782151,2	K562	blood:
18	chr1:212654477..212657612-chr1:212658521..212662499,5	K562	blood:
19	chr1:212650231..212651131-chr1:213168597..213169449,2	K562	blood:
20	chr1:212682129..212685194-chr1:212794381..212797024,3	K562	blood:
21	chr1:212639292..212640942-chr1:212781990..212784541,2	K562	blood:
22	chr1:212665451..212668027-chr1:212669826..212672664,2	K562	blood:
23	chr1:212687310..212689846-chr1:212695967..212699890,3	K562	blood:
24	chr1:212630558..212633496-chr1:212671302..212673120,2	K562	blood:
25	chr1:212693408..212696360-chr1:212780129..212783501,6	K562	blood:
26	chr1:212675568..212680156-chr1:212685148..212688870,4	K562	blood:
27	chr1:212660685..212662687-chr1:212682544..212685415,2	K562	blood:
28	chr1:212645805..212648932-chr1:212650111..212654210,5	K562	blood:
29	chr1:212650175..212651195-chr1:212803104..212804056,5	K562	blood:
30	chr1:212687936..212690352-chr1:212730094..212732951,2	K562	blood:
31	chr1:212642565..212644909-chr1:212645772..212647720,2	K562	blood:
32	chr1:212651212..212653872-chr1:212658074..212660402,3	K562	blood:
33	chr1:212694260..212697495-chr1:212698581..212701408,3	K562	blood:
34	chr1:212629922..212631691-chr1:212659895..212661692,2	K562	blood:
35	chr1:212673894..212676530-chr1:212787699..212789472,2	K562	blood:
36	chr1:212636838..212639720-chr1:212643460..212645324,2	K562	blood:
37	chr1:212656733..212659516-chr1:212769214..212770797,2	MCF-7	breast:
38	chr1:212663187..212667039-chr1:212686323..212689300,3	K562	blood:
39	chr1:212673623..212675813-chr1:212676044..212678475,3	K562	blood:
40	chr1:212688645..212690882-chr1:212691410..212694199,2	MCF-7	breast:
41	chr1:212630852..212631355-chr1:212641154..212641815,2	K562	blood:
42	chr1:212622646..212625445-chr1:212627199..212631249,4	K562	blood:
43	chr1:212686747..212688926-chr1:212729063..212731425,2	K562	blood:
44	chr1:212660151..212661692-chr1:212667519..212669650,2	K562	blood:
45	chr1:212641496..212643517-chr1:212649175..212651881,2	K562	blood:
46	chr1:212687346..212690563-chr1:212787177..212790270,4	K562	blood:
47	chr1:212648977..212651974-chr1:212781395..212783104,2	MCF-7	breast:
48	chr1:212663791..212666125-chr1:212687800..212689535,2	K562	blood:
49	chr1:212611206..212613997-chr1:212623720..212626273,2	MCF-7	breast:
50	chr1:212650902..212653623-chr1:212731690..212733930,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM206-4	chr1:212679674-212679832	XLOC_001194
2	lnc-TMEM206-2	chr1:212641009-212641085	XLOC_001193
3	lnc-TMEM206-2	chr1:212640158-212640439	XLOC_001193
4	lnc-TMEM206-4	chr1:212687866-212688157	XLOC_001194
5	lnc-TMEM206-4	chr1:212687632-212687654	NONHSAT009374
6	lnc-TMEM206-4	chr1:212687891-212688141	NONHSAT009374

No data

Variant related genes	Relation type
ENSG00000224535	TF binding region
ENSG00000224535	CpG island
ENSG00000260805	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000162771	chromatin interactions
ENSG00000117691	chromatin interactions
ENSG00000224535	chromatin interactions
ENSG00000264590	chromatin interactions
ENSG00000237980	chromatin interactions

Extended variants
information (count: 3093 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3093 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12567517	chr1:212617423-212617424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546795419	chr1:212617438-212617439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186330397	chr1:212617498-212617499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs61830681	chr1:212617504-212617505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs66912346	chr1:212617520-212617521	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs569810013	chr1:212617547-212617548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537058895	chr1:212617556-212617557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189075928	chr1:212617562-212617563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112019441	chr1:212617576-212617577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113115770	chr1:212617593-212617594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534975687	chr1:212617595-212617596	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61156296	chr1:212617612-212617613	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs578132698	chr1:212617622-212617623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376335474	chr1:212617627-212617628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370403962	chr1:212617641-212617642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369609833	chr1:212617646-212617647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111498838	chr1:212617649-212617650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201049372	chr1:212617650-212617651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559017760	chr1:212617678-212617679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371536685	chr1:212617688-212617689	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200749781	chr1:212617692-212617693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17355091	chr1:212617701-212617702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143536302	chr1:212617708-212617709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368519726	chr1:212617717-212617718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150200730	chr1:212617718-212617719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138812341	chr1:212617720-212617721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371937877	chr1:212617721-212617722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200458426	chr1:212617723-212617724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146397413	chr1:212617736-212617737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375003557	chr1:212617737-212617738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78790038	chr1:212617740-212617741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150141411	chr1:212617755-212617756	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186483007	chr1:212617765-212617766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368019136	chr1:212617780-212617781	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113560940	chr1:212617785-212617786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371443125	chr1:212617787-212617788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374760790	chr1:212617807-212617808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368854305	chr1:212617820-212617821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2275712	chr1:212617829-212617830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs562182432	chr1:212617844-212617845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145109984	chr1:212617861-212617862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373344142	chr1:212617862-212617863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574816270	chr1:212617898-212617899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536100635	chr1:212617901-212617902	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs71585824	chr1:212617907-212617908	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs57582682	chr1:212617911-212617912	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201648282	chr1:212617912-212617913	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190920646	chr1:212617955-212617956	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12024457	chr1:212617961-212617962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs589669	chr1:212618022-212618023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1850 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212607000-212623400	Weak transcription	HSMMtube	muscle
2	chr1:212607200-212617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:212607400-212617600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:212607400-212617600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:212607400-212618800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr1:212607400-212622800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:212607400-212625800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212607400-212626000	Weak transcription	Colonic Mucosa	Colon
9	chr1:212607400-212629200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:212607600-212617600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:212607600-212617600	Weak transcription	Placenta	Placenta
12	chr1:212607600-212617800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:212607600-212618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:212607600-212618000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:212607600-212619000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:212607600-212619000	Weak transcription	Thymus	Thymus
17	chr1:212607600-212619200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:212607600-212620600	Weak transcription	HMEC	breast
19	chr1:212607600-212621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:212607600-212624000	Weak transcription	Fetal Brain Male	brain
21	chr1:212607600-212625800	Weak transcription	Stomach Mucosa	stomach
22	chr1:212607600-212626000	Weak transcription	NH-A	brain
23	chr1:212607800-212617600	Weak transcription	Primary T cells from cord blood	blood
24	chr1:212607800-212617600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:212607800-212617600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:212607800-212617600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:212607800-212617600	Weak transcription	Right Ventricle	heart
28	chr1:212607800-212617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:212607800-212617800	Weak transcription	Adipose Nuclei	Adipose
30	chr1:212607800-212618800	Weak transcription	Brain Germinal Matrix	brain
31	chr1:212607800-212619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:212607800-212619200	Weak transcription	Fetal Thymus	thymus
33	chr1:212607800-212620000	Weak transcription	Osteobl	bone
34	chr1:212607800-212623400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:212607800-212624400	Weak transcription	NHEK	skin
36	chr1:212607800-212625800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:212607800-212625800	Weak transcription	NHLF	lung
38	chr1:212607800-212629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:212608000-212617600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:212608000-212617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:212608000-212617600	Weak transcription	A549	lung
42	chr1:212608000-212617800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:212608000-212618800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:212608000-212621600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:212608000-212625800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:212608000-212627000	Weak transcription	HepG2	liver
47	chr1:212608200-212617600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:212608400-212617600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:212608400-212617600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:212608400-212618600	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links