Variant report

Variant	nsv556857
Chromosome Location	chr12:282465-377904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1455)
CpG islands
(count:3602)
Chromatin interactive
region (count:40)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1455 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:298349-298388	K562	blood:	n/a	n/a
2	ARID3A	chr12:345774-345842	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:346692-346907	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:319277-319842	HepG2	liver:	n/a	n/a
5	ATF1	chr12:285620-285967	K562	blood:	n/a	n/a
6	ATF1	chr12:308947-309267	K562	blood:	n/a	n/a
7	ATF1	chr12:373538-373815	K562	blood:	n/a	n/a
8	ATF2	chr12:320931-321290	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr12:329110-329313	K562	blood:	n/a	n/a
10	ATF3	chr12:289702-289924	K562	blood:	n/a	n/a
11	BACH1	chr12:328963-329532	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr12:308502-308715	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr12:321015-321189	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr12:288438-288716	H1-hESC	embryonic stem cell:	n/a	chr12:288578-288592
15	BACH1	chr12:312656-312881	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL11A	chr12:368058-368307	GM12878	blood:	n/a	n/a
17	BCL3	chr12:377133-378098	A549	lung:	n/a	n/a
18	BHLHE40	chr12:366144-366293	K562	blood:	n/a	n/a
19	BHLHE40	chr12:298401-298467	K562	blood:	n/a	n/a
20	BHLHE40	chr12:294691-295034	K562	blood:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294868-294877 chr12:294869-294878
21	BHLHE40	chr12:319496-319845	HepG2	liver:	n/a	n/a
22	BHLHE40	chr12:319461-319850	HepG2	liver:	n/a	n/a
23	BHLHE40	chr12:302513-302839	K562	blood:	n/a	chr12:302670-302679 chr12:302671-302680 chr12:302748-302764 chr12:302671-302680 chr12:302665-302686
24	BHLHE40	chr12:294714-295081	HepG2	liver:	n/a	chr12:294869-294878 chr12:294870-294879 chr12:294867-294880 chr12:294868-294877 chr12:294869-294878
25	BHLHE40	chr12:298253-298607	HepG2	liver:	n/a	n/a
26	BHLHE40	chr12:319181-319880	HepG2	liver:	n/a	n/a
27	BHLHE40	chr12:289673-290107	GM12878	blood:	n/a	n/a
28	BHLHE40	chr12:346383-346899	HepG2	liver:	n/a	n/a
29	BHLHE40	chr12:289650-290110	K562	blood:	n/a	n/a
30	BHLHE40	chr12:329121-329447	K562	blood:	n/a	n/a
31	BHLHE40	chr12:344171-344359	K562	blood:	n/a	chr12:344223-344232 chr12:344217-344238 chr12:344223-344232 chr12:344222-344231 chr12:344221-344234
32	BRCA1	chr12:298216-298256	HepG2	liver:	n/a	n/a
33	BRCA1	chr12:319500-319950	HepG2	liver:	n/a	n/a
34	CBX3	chr12:344865-345227	K562	blood:	n/a	n/a
35	CCNT2	chr12:298259-298565	K562	blood:	n/a	n/a
36	CCNT2	chr12:284479-284668	K562	blood:	n/a	n/a
37	CEBPB	chr12:299833-299960	K562	blood:	n/a	chr12:299932-299943
38	CEBPB	chr12:323305-323515	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr12:319495-319805	HepG2	liver:	n/a	chr12:319676-319688
40	CEBPB	chr12:373496-373744	K562	blood:	n/a	n/a
41	CEBPB	chr12:323304-323528	HepG2	liver:	n/a	n/a
42	CEBPB	chr12:308999-309199	IMR90	lung:	n/a	n/a
43	CEBPB	chr12:362659-363007	HepG2	liver:	n/a	n/a
44	CEBPB	chr12:299770-300001	HepG2	liver:	n/a	chr12:299932-299943
45	CEBPB	chr12:319474-319857	HepG2	liver:	n/a	chr12:319676-319688
46	CEBPB	chr12:346655-346961	HepG2	liver:	n/a	n/a
47	CEBPB	chr12:362727-362918	HepG2	liver:	n/a	n/a
48	CEBPB	chr12:322087-322305	HepG2	liver:	n/a	n/a
49	CEBPD	chr12:319456-319844	HepG2	liver:	n/a	n/a
50	CEBPD	chr12:323124-323381	HepG2	liver:	n/a	n/a

(count:3602 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:324682-324732	HAEpiC	amniotic membrane:	n/a
2	chr12:312595-312645	MCF10A-Er-Src	breast:	n/a
3	chr12:316456-316506	AG09309	skin:	n/a
4	chr12:324682-324732	HAEpiC	amniotic membrane:	n/a
5	chr12:312595-312645	MCF10A-Er-Src	breast:	n/a
6	chr12:316456-316506	AG09309	skin:	n/a
7	chr12:322659-322709	IMR90	lung:	fetal
8	chr12:334268-334318	HUVEC	blood vessel:	n/a
9	chr12:322876-322926	HL-60	blood:	n/a
10	chr12:372259-372309	GM12878	blood:	n/a
11	chr12:371916-371966	ovcar-3	ovarian:	n/a
12	chr12:324682-324732	SKMC	muscle:	n/a
13	chr12:341431-341481	SK-N-SH	brain:	n/a
14	chr12:329792-329842	HCM	heart:	n/a
15	chr12:312595-312645	AG04449	skin:	fetal
16	chr12:371950-372000	SK-N-SH_RA	brain:	n/a
17	chr12:298151-298201	A549	lung:	n/a
18	chr12:334268-334318	SK-N-SH_RA	brain:	n/a
19	chr12:297356-297406	SK-N-SH_RA	brain:	n/a
20	chr12:286620-286670	Jurkat	blood:	n/a
21	chr12:300298-300348	ECC-1	luminal epithelium:	n/a
22	chr12:313104-313154	HL-60	blood:	n/a
23	chr12:323439-323489	AG04449	skin:	fetal
24	chr12:322983-323033	MCF-7	breast:	n/a
25	chr12:322649-322699	HRE	kidney:	n/a
26	chr12:295951-296001	NH-A	brain:	n/a
27	chr12:329792-329842	HRE	kidney:	n/a
28	chr12:328259-328309	HIPEpiC	eye:	n/a
29	chr12:322659-322709	MCF-7	breast:	n/a
30	chr12:322649-322699	MCF10A-Er-Src	breast:	n/a
31	chr12:324747-324797	BJ	skin:	n/a
32	chr12:334268-334318	NT2-D1	testis:	n/a
33	chr12:323439-323489	RPTEC	kidney:	n/a
34	chr12:322983-323033	Hepatocyte	liver:	n/a
35	chr12:322659-322709	RPTEC	kidney:	n/a
36	chr12:371916-371966	HepG2	liver:	n/a
37	chr12:328259-328309	NH-A	brain:	n/a
38	chr12:372191-372241	GM12891	blood:	n/a
39	chr12:372049-372099	NH-A	brain:	n/a
40	chr12:298268-298318	ovcar-3	ovarian:	n/a
41	chr12:296609-296659	SK-N-MC	brain:	n/a
42	chr12:323242-323292	Jurkat	blood:	n/a
43	chr12:323439-323489	MCF-7	breast:	n/a
44	chr12:341431-341481	NT2-D1	testis:	n/a
45	chr12:324682-324732	LNCaP	prostate:	n/a
46	chr12:322983-323033	GM06990	blood:	n/a
47	chr12:372259-372309	SAEC	small airway:	n/a
48	chr12:291668-291718	HMEC	breast:	n/a
49	chr12:329792-329842	Caco-2	colon:	n/a
50	chr12:322876-322926	NH-A	brain:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:316788..319750-chr12:320209..321794,2	K562	blood:
2	chr12:287241..288955-chr12:290597..292679,2	MCF-7	breast:
3	chr12:303209..305233-chr12:388816..390804,2	K562	blood:
4	chr12:297600..300406-chr12:301639..304265,3	K562	blood:
5	chr12:261934..262973-chr12:328743..329813,6	MCF-7	breast:
6	chr12:312121..313775-chr12:317297..318932,2	K562	blood:
7	chr12:277716..278396-chr12:328816..329813,2	MCF-7	breast:
8	chr12:308043..310053-chr12:310352..312706,2	MCF-7	breast:
9	chr12:329421..332739-chr12:333658..336710,3	K562	blood:
10	chr12:287922..289463-chr12:291196..293394,2	K562	blood:
11	chr12:297965..298734-chr12:308100..308686,2	MCF-7	breast:
12	chr12:298095..299012-chr12:328485..329986,6	MCF-7	breast:
13	chr12:280534..283039-chr12:284171..287283,4	K562	blood:
14	chr12:238738..241077-chr12:328094..330048,2	K562	blood:
15	chr12:371815..373339-chr12:375834..377443,2	K562	blood:
16	chr12:284257..286850-chr12:289241..291499,2	MCF-7	breast:
17	chr12:278455..281013-chr12:283457..285093,2	K562	blood:
18	chr12:297943..299013-chr12:328724..329295,3	K562	blood:
19	chr12:297943..299013-chr12:328724..329295,3	K562	blood:
20	chr12:301002..302613-chr12:305489..307990,2	MCF-7	breast:
21	chr12:335174..337021-chr12:347324..348997,2	MCF-7	breast:
22	chr12:284226..286607-chr12:303579..306228,2	K562	blood:
23	chr12:277748..279992-chr12:305232..307484,2	MCF-7	breast:
24	chr12:308043..310053-chr12:310352..312706,2	MCF-7	breast:
25	chr12:313171..315687-chr12:321794..324554,2	K562	blood:
26	chr12:311759..314778-chr12:317325..320101,3	MCF-7	breast:
27	chr12:272899..275602-chr12:282568..284207,2	MCF-7	breast:
28	chr12:329666..332151-chr12:332922..335452,2	MCF-7	breast:
29	chr12:309101..311206-chr12:317148..318705,2	K562	blood:
30	chr12:297600..300406-chr12:301338..304265,4	K562	blood:
31	chr12:211691..214245-chr12:294558..297175,2	K562	blood:
32	chr12:298095..299012-chr12:328485..329986,6	MCF-7	breast:
33	chr12:371815..374343-chr12:375834..377592,4	K562	blood:
34	chr12:335174..337021-chr12:347324..348997,2	MCF-7	breast:
35	chr12:343024..345718-chr12:346456..348624,2	MCF-7	breast:
36	chr12:296668..298848-chr12:310032..311975,2	K562	blood:
37	chr12:311759..314778-chr12:317325..320101,3	MCF-7	breast:
38	chr12:309101..311206-chr12:317148..318705,2	K562	blood:
39	chr12:311562..313775-chr12:316272..318932,2	K562	blood:
40	chr12:360330..361839-chr12:364810..367065,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM5A-2	chr12:362608-362913	ENSG00000255746.1
2	lnc-KDM5A-2	chr12:366437-366602	NONHSAT025324
3	lnc-KDM5A-2	chr12:365639-365806	ENSG00000255746.1
4	lnc-CCDC77-4	chr12:285648-285729	NONHSAT025309
5	lnc-KDM5A-2	chr12:367087-367167	NONHSAT025324
6	lnc-CCDC77-4	chr12:287177-287620	NONHSAT025309
7	lnc-IQSEC3-2	chr12:313184-313395	ENSG00000256577.1
8	lnc-IQSEC3-2	chr12:313806-314228	NONHSAT025315
9	lnc-IQSEC3-2	chr12:313033-313411	NONHSAT025315
10	lnc-IQSEC3-2	chr12:312808-312905	ENSG00000256577.1
11	lnc-SLC6A12-1	chr12:291234-291562	ENSG00000256540
12	lnc-IQSEC3-2	chr12:313806-314189	ENSG00000256577.1
13	lnc-SLC6A13-1	chr12:322456-322883	NONHSAT025317
14	lnc-IQSEC3-1	chr12:303127-303296	ENSG00000255671.1
15	lnc-KDM5A-2	chr12:366437-366465	ENSG00000255746.1
16	lnc-SLC6A13-1	chr12:321238-321276	NONHSAT025317
17	lnc-SLC6A12-1	chr12:291234-291565	ENSG00000256540
18	lnc-IQSEC3-1	chr12:302202-302346	ENSG00000255671.1
19	lnc-KDM5A-2	chr12:365683-365806	NONHSAT025324

No data

Variant related genes	Relation type
ENSG00000256577	TF binding region
IQSEC3	TF binding region
ENSG00000256540	TF binding region
ENSG00000255746	TF binding region
SLC6A13	TF binding region
SLC6A12	TF binding region
ENSG00000255671	TF binding region
ENSG00000256577	CpG island
IQSEC3	CpG island
ENSG00000256540	CpG island
ENSG00000255746	CpG island
SLC6A13	CpG island
SLC6A12	CpG island
ENSG00000255671	CpG island
ENSG00000010379	chromatin interactions
ENSG00000255746	chromatin interactions
ENSG00000255671	chromatin interactions
ENSG00000256540	chromatin interactions
ENSG00000120645	chromatin interactions
ENSG00000111181	chromatin interactions
ENSG00000256694	chromatin interactions
ENSG00000256577	chromatin interactions

Extended variants
information (count: 4829 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4829 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546092648	chr12:282481-282482	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534066541	chr12:282504-282505	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555423909	chr12:282538-282539	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573724448	chr12:282539-282540	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117575159	chr12:282544-282545	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532013608	chr12:282582-282583	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs563210178	chr12:282618-282619	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs184575624	chr12:282619-282620	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs370928952	chr12:282637-282638	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs560571221	chr12:282651-282652	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs77222186	chr12:282654-282655	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs549135816	chr12:282662-282663	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs560944682	chr12:282712-282713	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs187916889	chr12:282752-282753	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs140177371	chr12:282800-282801	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs571527513	chr12:282801-282802	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs76593881	chr12:282811-282812	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs572837776	chr12:282824-282825	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs374717222	chr12:282866-282867	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs192223287	chr12:282867-282868	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs76683891	chr12:282882-282883	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs555461196	chr12:282937-282938	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs573761404	chr12:282957-282958	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537856335	chr12:282974-282975	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs556235494	chr12:282979-282980	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs554278863	chr12:282990-282991	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs545420353	chr12:283021-283022	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs35315396	chr12:283041-283042	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372067879	chr12:283122-283123	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560826512	chr12:283177-283178	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116210938	chr12:283194-283195	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543216656	chr12:283245-283246	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560981423	chr12:283260-283261	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531394554	chr12:283279-283280	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549844604	chr12:283282-283283	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143805325	chr12:283283-283284	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183565902	chr12:283290-283291	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547402906	chr12:283344-283345	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561501955	chr12:283385-283386	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565608895	chr12:283400-283401	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529852914	chr12:283415-283416	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547938543	chr12:283416-283417	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150921458	chr12:283469-283470	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs76223711	chr12:283481-283482	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564076609	chr12:283511-283512	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538003858	chr12:283517-283518	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531293922	chr12:283521-283522	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571587810	chr12:283533-283534	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539003760	chr12:283534-283535	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140508242	chr12:283536-283537	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1791 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:249000-284200	Weak transcription	Right Atrium	heart
2	chr12:253800-285600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:262800-284200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:268800-284200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:273600-284600	Weak transcription	Esophagus	oesophagus
6	chr12:276200-282800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:276200-284000	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:276400-283000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:277200-292800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:277400-283200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:278400-283400	Weak transcription	Liver	Liver
12	chr12:278400-283600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:278400-288400	Weak transcription	Fetal Kidney	kidney
14	chr12:278600-283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:279000-285200	Weak transcription	Fetal Thymus	thymus
16	chr12:279800-283400	Weak transcription	Fetal Lung	lung
17	chr12:280000-283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:280000-286000	Weak transcription	Fetal Brain Female	brain
19	chr12:280000-289600	Enhancers	Right Ventricle	heart
20	chr12:280400-283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:280400-283800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr12:280400-286000	Bivalent Enhancer	Placenta	Placenta
23	chr12:280600-282600	Enhancers	Fetal Heart	heart
24	chr12:280600-283800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr12:280600-283800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:280600-287400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:280600-288000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:281000-283000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:281000-283800	Enhancers	Colonic Mucosa	Colon
30	chr12:281000-283800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr12:281000-290000	Enhancers	Left Ventricle	heart
32	chr12:281200-282800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:281600-282600	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr12:281600-283600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr12:281600-283800	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr12:281800-283200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:281800-284400	Enhancers	Spleen	Spleen
38	chr12:281800-285400	Weak transcription	Hela-S3	cervix
39	chr12:281800-289000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:282000-283600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:282000-285400	Weak transcription	Gastric	stomach
42	chr12:282000-286600	Enhancers	Fetal Muscle Leg	muscle
43	chr12:282200-282800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:282200-282800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:282200-283200	Weak transcription	HSMMtube	muscle
46	chr12:282200-288000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:282400-282600	Enhancers	Lung	lung
48	chr12:282400-283400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:282400-284200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:282600-283000	Weak transcription	Fetal Heart	heart

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