Variant report

Variant	esv2758990
Chromosome Location	chr1:196590837-197169772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4394)
CpG islands
(count:2991)
Chromatin interactive
region (count:239)
LncRNA
region (count:47)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:4394 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:196620960-196621314	K562	blood:	n/a	n/a
2	ARID3A	chr1:197142850-197143703	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:197168611-197169006	K562	blood:	n/a	n/a
4	ARID3A	chr1:196630070-196630378	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:197112143-197112170	K562	blood:	n/a	n/a
6	ARID3A	chr1:196622856-196622973	K562	blood:	n/a	n/a
7	ARID3A	chr1:197169385-197169814	K562	blood:	n/a	n/a
8	ARID3A	chr1:196961119-196961475	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:196976420-196976467	K562	blood:	n/a	n/a
10	ARID3A	chr1:196712502-196712701	K562	blood:	n/a	n/a
11	ARID3A	chr1:197115609-197116380	K562	blood:	n/a	n/a
12	ARID3A	chr1:197036264-197036959	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:196996590-196996957	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:197035700-197036063	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:197115676-197116328	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:196856986-196857227	HepG2	liver:	n/a	n/a
17	ARID3A	chr1:197148161-197148543	K562	blood:	n/a	n/a
18	ATF1	chr1:196920683-196920808	K562	blood:	n/a	n/a
19	ATF1	chr1:196677817-196677904	K562	blood:	n/a	n/a
20	ATF1	chr1:196945587-196945612	K562	blood:	n/a	n/a
21	ATF1	chr1:197000124-197000133	K562	blood:	n/a	n/a
22	ATF1	chr1:197035585-197035625	K562	blood:	n/a	n/a
23	ATF1	chr1:196688114-196688182	K562	blood:	n/a	n/a
24	ATF1	chr1:197024184-197024295	K562	blood:	n/a	n/a
25	ATF1	chr1:196982603-196982800	K562	blood:	n/a	n/a
26	ATF1	chr1:196986708-196987316	K562	blood:	n/a	n/a
27	ATF1	chr1:196978066-196978277	K562	blood:	n/a	n/a
28	ATF1	chr1:196996958-196997028	K562	blood:	n/a	n/a
29	ATF1	chr1:197115660-197116278	K562	blood:	n/a	n/a
30	ATF2	chr1:197115869-197116225	GM12878	blood:	n/a	n/a
31	ATF2	chr1:196920857-196921198	GM12878	blood:	n/a	n/a
32	ATF2	chr1:196920798-196921176	GM12878	blood:	n/a	n/a
33	ATF2	chr1:196929984-196930356	GM12878	blood:	n/a	n/a
34	ATF2	chr1:197115463-197116052	GM12878	blood:	n/a	n/a
35	ATF3	chr1:196990852-196991057	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr1:197169652-197169753	K562	blood:	n/a	n/a
37	BACH1	chr1:196624597-196624690	K562	blood:	n/a	n/a
38	BACH1	chr1:197073109-197073136	K562	blood:	n/a	n/a
39	BACH1	chr1:197162983-197163017	K562	blood:	n/a	n/a
40	BACH1	chr1:197072339-197072887	K562	blood:	n/a	n/a
41	BACH1	chr1:196866267-196866431	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr1:196966799-196966805	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr1:197115545-197115832	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr1:197115244-197115303	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr1:196993821-196993930	K562	blood:	n/a	n/a
46	BACH1	chr1:197109159-197109190	K562	blood:	n/a	n/a
47	BACH1	chr1:197148085-197148442	K562	blood:	n/a	n/a
48	BATF	chr1:196856972-196857380	GM12878	blood:	n/a	chr1:196857241-196857249
49	BATF	chr1:196920821-196921204	GM12878	blood:	n/a	n/a
50	BATF	chr1:197148116-197148453	GM12878	blood:	n/a	chr1:197148311-197148322

(count:2991 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196865686-196865736	BE2_C	brain:	n/a
2	chr1:196620963-196621013	HAEpiC	amniotic membrane:	n/a
3	chr1:196865686-196865736	BE2_C	brain:	n/a
4	chr1:196620963-196621013	HAEpiC	amniotic membrane:	n/a
5	chr1:197037504-197037554	CMK	blood:	n/a
6	chr1:196795943-196795993	PrEC	prostate:	n/a
7	chr1:196865686-196865736	CMK	blood:	n/a
8	chr1:196787850-196787900	HL-60	blood:	n/a
9	chr1:197168834-197168884	HRE	kidney:	n/a
10	chr1:196866512-196866562	HNPCEpiC	eye:	n/a
11	chr1:196945845-196945895	HRCEpiC	kidney:	n/a
12	chr1:196866512-196866562	BJ	skin:	n/a
13	chr1:196746875-196746925	GM12891	blood:	n/a
14	chr1:196619631-196619681	SKMC	muscle:	n/a
15	chr1:196746875-196746925	AG04450	lung:	fetal
16	chr1:196847182-196847232	SAEC	small airway:	n/a
17	chr1:197115979-197116029	LNCaP	prostate:	n/a
18	chr1:197116190-197116240	HNPCEpiC	eye:	n/a
19	chr1:196923877-196923927	BE2_C	brain:	n/a
20	chr1:197115755-197115805	MCF10A-Er-Src	breast:	n/a
21	chr1:197115755-197115805	PrEC	prostate:	n/a
22	chr1:197115927-197115977	AG09319	gingival:	n/a
23	chr1:197116190-197116240	ProgFib	skin:	n/a
24	chr1:197116622-197116672	HEEpiC	esophagus:	n/a
25	chr1:196945845-196945895	BE2_C	brain:	n/a
26	chr1:196619732-196619782	SK-N-MC	brain:	n/a
27	chr1:197115812-197115862	SAEC	small airway:	n/a
28	chr1:196624484-196624534	SKMC	muscle:	n/a
29	chr1:196855851-196855901	NHDF-neo	bronchial:	n/a
30	chr1:196946228-196946278	HUVEC	blood vessel:	n/a
31	chr1:197116622-197116672	SKMC	muscle:	n/a
32	chr1:197115964-197116014	SK-N-MC	brain:	n/a
33	chr1:197149498-197149548	HCPEpiC	choroid plexus:	n/a
34	chr1:197115755-197115805	HRPEpiC	eye:	n/a
35	chr1:197115812-197115862	HUVEC	blood vessel:	n/a
36	chr1:197037732-197037782	HCPEpiC	choroid plexus:	n/a
37	chr1:197149498-197149548	GM12878	blood:	n/a
38	chr1:197168834-197168884	PrEC	prostate:	n/a
39	chr1:196787850-196787900	SK-N-MC	brain:	n/a
40	chr1:196624484-196624534	GM12878	blood:	n/a
41	chr1:197115964-197116014	AG04450	lung:	fetal
42	chr1:196946512-196946562	GM06990	blood:	n/a
43	chr1:196743672-196743722	Hepatocyte	liver:	n/a
44	chr1:196702931-196702981	HIPEpiC	eye:	n/a
45	chr1:197115958-197116008	NT2-D1	testis:	n/a
46	chr1:197116190-197116240	NB4	blood:	n/a
47	chr1:197124878-197124928	SK-N-SH	brain:	n/a
48	chr1:197115834-197115884	ProgFib	skin:	n/a
49	chr1:196855851-196855901	MCF-7	breast:	n/a
50	chr1:196787850-196787900	ProgFib	skin:	n/a

(count:239 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr1:197096123..197098122-chr1:197113804..197115489,2	K562	blood:
2	chr1:197017524..197019536-chr1:197026374..197028329,2	K562	blood:
3	chr1:197147456..197149812-chr1:197152847..197154402,2	K562	blood:
4	chr1:197075415..197078387-chr1:197103819..197106746,2	K562	blood:
5	chr1:197095850..197097444-chr1:197103656..197105716,2	K562	blood:
6	chr1:197112577..197117470-chr1:197168821..197172597,7	K562	blood:
7	chr1:197149215..197150102-chr1:197326053..197326779,3	MCF-7	breast:
8	chr1:197096123..197098122-chr1:197113804..197115489,2	K562	blood:
9	chr1:196594698..196597154-chr1:196642219..196645210,2	K562	blood:
10	chr1:197108980..197111975-chr1:197160260..197161833,2	K562	blood:
11	chr1:196985265..196987466-chr1:196989063..196990748,2	K562	blood:
12	chr1:196866686..196869291-chr1:196870395..196872004,2	K562	blood:
13	chr1:196993317..196995109-chr1:197057738..197060458,2	K562	blood:
14	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
15	chr1:197086007..197089050-chr1:197097882..197101609,3	K562	blood:
16	chr1:197090849..197092576-chr1:197169357..197171640,2	K562	blood:
17	chr1:197089752..197091362-chr1:197102516..197104850,2	K562	blood:
18	chr1:196988548..196990975-chr1:197072466..197074203,2	K562	blood:
19	chr1:197152680..197155309-chr1:197165847..197169413,3	MCF-7	breast:
20	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
21	chr1:196969979..196972874-chr1:196985004..196987728,2	K562	blood:
22	chr1:197083131..197085209-chr1:197097769..197099515,2	K562	blood:
23	chr1:197145604..197149489-chr1:197168238..197172355,4	K562	blood:
24	chr1:196616585..196619020-chr1:196619312..196622105,3	K562	blood:
25	chr1:197121011..197127851-chr1:197128597..197135190,9	K562	blood:
26	chr1:196692213..196693146-chr1:196701336..196702240,4	MCF-7	breast:
27	chr1:197159273..197161304-chr1:197164955..197167252,3	K562	blood:
28	chr1:196594698..196597154-chr1:196642219..196645210,2	K562	blood:
29	chr1:197086007..197087668-chr1:197097835..197099382,2	K562	blood:
30	chr1:196987048..196988692-chr1:196993357..196995367,2	K562	blood:
31	chr1:196629812..196630524-chr1:196701384..196702319,3	MCF-7	breast:
32	chr1:197149643..197151239-chr1:197155881..197158669,2	K562	blood:
33	chr1:196700723..196702673-chr1:196877017..196878794,2	K562	blood:
34	chr1:197086007..197087668-chr1:197097835..197099382,2	K562	blood:
35	chr1:197094788..197098380-chr1:197102598..197105893,5	K562	blood:
36	chr1:197128463..197130578-chr1:197135579..197137702,2	K562	blood:
37	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
38	chr1:196692236..196693111-chr1:196859470..196860182,3	MCF-7	breast:
39	chr1:197086992..197089260-chr1:197103012..197104578,2	K562	blood:
40	chr1:197100050..197103962-chr1:197110434..197115621,7	K562	blood:
41	chr1:196988548..196990975-chr1:197072466..197074203,2	K562	blood:
42	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:
43	chr1:196821183..196821683-chr13:114578689..114579580,2	NB4	blood:
44	chr1:196687090..196688977-chr1:196689893..196692748,2	MCF-7	breast:
45	chr1:197155834..197158603-chr1:197158660..197160759,2	K562	blood:
46	chr1:196701976..196704900-chr1:197163664..197165558,2	K562	blood:
47	chr1:197093048..197099045-chr1:197107378..197117076,12	K562	blood:
48	chr1:196286732..196287389-chr1:196629899..196630582,2	MCF-7	breast:
49	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
50	chr1:197152680..197155309-chr1:197165847..197169413,3	MCF-7	breast:

(count:47 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPM-1	chr1:197136163-197136321	NONHSAT008612
2	lnc-ASPM-1	chr1:197043410-197043995	NONHSAT008612
3	lnc-CFHR5-1	chr1:196918566-196918779	NONHSAT008607
4	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008603
5	lnc-CFHR5-1	chr1:196920030-196920158	NONHSAT008605
6	lnc-CFHR5-1	chr1:196918747-196918779	NONHSAT008606
7	lnc-CFHR2-1	chr1:196797200-196797225	NONHSAT008600
8	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008609
9	lnc-F13B-1	chr1:196834519-196834621	NONHSAT008604
10	lnc-CFHR2-1	chr1:196788995-196789032	NONHSAT008602
11	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008608
12	lnc-CFHR2-1	chr1:196794607-196794801	NONHSAT008600
13	lnc-CFHR5-1	chr1:196912957-196913068	NONHSAT008608
14	lnc-ASPM-2	chr1:197009275-197009507	NONHSAT008610
15	lnc-ASPM-1	chr1:197062778-197062807	l_160_chr1:197043319-197062807_placenta
16	lnc-CFHR2-1	chr1:196794354-196794801	NONHSAT008603
17	lnc-CFHR5-1	chr1:196919982-196920069	NONHSAT008607
18	lnc-CFHR5-1	chr1:196912947-196913068	NONHSAT008607
19	lnc-CFHR1-1	chr1:196758890-196759357	NONHSAT008599
20	lnc-ASPM-1	chr1:197134241-197136321	ucscGeneNc_uc001guz_1
21	lnc-CFHR2-1	chr1:196788952-196789032	NONHSAT008601
22	lnc-CFHR5-1	chr1:196918585-196918779	NONHSAT008605
23	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008600
24	lnc-ASPM-1	chr1:197043320-197043793	l_160_chr1:197043319-197062807_placenta
25	lnc-CFHR5-1	chr1:196919982-196920157	NONHSAT008606
26	lnc-ASPM-1	chr1:197062778-197062968	NONHSAT008611
27	lnc-CFHR2-1	chr1:196790015-196790332	NONHSAT008601
28	lnc-CFHR5-1	chr1:196927021-196927203	NONHSAT008605
29	lnc-CFHR5-1	chr1:196928011-196928349	NONHSAT008608
30	lnc-F13B-1	chr1:196833477-196833736	NONHSAT008604
31	lnc-CFHR5-1	chr1:196919982-196920158	NONHSAT008608
32	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008606
33	lnc-ASPM-1	chr1:197135770-197136321	NONHSAT008615
34	lnc-ASPM-2	chr1:197009652-197009865	NONHSAT008610
35	lnc-CFHR2-1	chr1:196788893-196789032	NONHSAT008600
36	lnc-ASPM-1	chr1:197043802-197043995	l_160_chr1:197043319-197062807_placenta
37	lnc-CFHR5-1	chr1:196928011-196928345	NONHSAT008609
38	lnc-CFHR2-1	chr1:196797280-196797376	NONHSAT008600
39	lnc-ASPM-2	chr1:197019827-197019975	NONHSAT008610
40	lnc-CFHR1-1	chr1:196762447-196762763	NONHSAT008599
41	lnc-ASPM-1	chr1:197043245-197043995	NONHSAT008611
42	lnc-CFHR5-1	chr1:196928011-196928178	NONHSAT008605
43	lnc-ZBTB41-2	chr1:197107878-197108437	NONHSAT008613
44	lnc-CFHR2-1	chr1:196794607-196795156	NONHSAT008602
45	lnc-CFHR2-1	chr1:196797200-196797297	NONHSAT008603
46	lnc-CFHR5-1	chr1:196912988-196913068	NONHSAT008609
47	lnc-CFHR5-1	chr1:196912902-196913068	NONHSAT008605

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	F13B	hsa-miR-26b-5p	chr1:197008392-197008411
2	ZBTB41	hsa-miR-93-5p	chr1:197127238-197127232
3	ZBTB41	hsa-miR-93-5p	chr1:197127051-197127045
4	ZBTB41	hsa-miR-93-5p	chr1:197127232-197127255
5	CFH	hsa-miR-146a-5p	chr1:196716478-196716499
6	ZBTB41	hsa-miR-374b-5p	chr1:197126457-197126479
7	ZBTB41	hsa-miR-374b-5p	chr1:197126567-197126589
8	ZBTB41	hsa-miR-374b-5p	chr1:197126423-197126443
9	ZBTB41	hsa-miR-93-5p	chr1:197127045-197127065

Variant related genes	Relation type
CFH	TF binding region
CRB1	TF binding region
F13B	TF binding region
CFHR5	TF binding region
CFHR4	TF binding region
ENSG00000235748	TF binding region
ZBTB41	TF binding region
CFHR2	TF binding region
ASPM	TF binding region
CFHR1	TF binding region
CFHR3	TF binding region
CFH	CpG island
CRB1	CpG island
F13B	CpG island
CFHR5	CpG island
CFHR4	CpG island
ENSG00000235748	CpG island
ZBTB41	CpG island
CFHR2	CpG island
ASPM	CpG island
CFHR1	CpG island
CFHR3	CpG island
ENSG00000023572	chromatin interactions
ENSG00000143278	chromatin interactions
ENSG00000162687	chromatin interactions
ENSG00000134376	chromatin interactions
ENSG00000177888	chromatin interactions
ENSG00000235748	chromatin interactions
ENSG00000066279	chromatin interactions
ENSG00000000971	chromatin interactions
ENSG00000116785	chromatin interactions
ENSG00000237861	chromatin interactions
ENSG00000259884	chromatin interactions

Extended variants
information (count: 17562 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:17562 , 50 per page) page: 1 2 3 4 5 6 7 ... 352

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547800638	chr1:196616102-196616103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs510251	chr1:196616126-196616127	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563079596	chr1:196616128-196616129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574973829	chr1:196616134-196616135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs75197651	chr1:196616141-196616142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74650613	chr1:196616150-196616151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553456940	chr1:196616170-196616171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184643915	chr1:196616193-196616194	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189012510	chr1:196616203-196616204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs146323452	chr1:196616235-196616236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551342562	chr1:196616344-196616345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565228332	chr1:196616398-196616399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540473623	chr1:196616415-196616416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540834034	chr1:196616417-196616418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558992211	chr1:196616424-196616425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs78686138	chr1:196616461-196616462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547911911	chr1:196616462-196616463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529066198	chr1:196616466-196616467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569536059	chr1:196616523-196616524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs530569292	chr1:196616528-196616529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs527570128	chr1:196616531-196616532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs192837171	chr1:196616552-196616553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201658848	chr1:196616599-196616600	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377639638	chr1:196616693-196616694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376026818	chr1:196616705-196616706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112918954	chr1:196616708-196616709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535195632	chr1:196616716-196616717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547236526	chr1:196616749-196616750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568697562	chr1:196616752-196616753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535935345	chr1:196616753-196616754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189379803	chr1:196616896-196616897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs481595	chr1:196616909-196616910	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs481538	chr1:196616928-196616929	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558528902	chr1:196616950-196616951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531017693	chr1:196616963-196616964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540801602	chr1:196617023-196617024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559102828	chr1:196617052-196617053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77225901	chr1:196617061-196617062	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570775245	chr1:196617074-196617075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541516787	chr1:196617082-196617083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs479718	chr1:196617104-196617105	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530379346	chr1:196617162-196617163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180936759	chr1:196617178-196617179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185916101	chr1:196617207-196617208	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553594819	chr1:196617290-196617291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367897831	chr1:196617297-196617298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556100587	chr1:196617310-196617311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189508904	chr1:196617326-196617327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568397357	chr1:196617376-196617377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568660432	chr1:196617385-196617386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Autism	21865298	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:4417 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196618000-196619200	Enhancers	Dnd41	blood
2	chr1:196619000-196619200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr1:196619000-196619400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:196619000-196619400	Active TSS	K562	blood
5	chr1:196619000-196619600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:196619000-196619800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:196619000-196619800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:196619000-196619800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:196619000-196619800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
11	chr1:196619200-196619600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:196619200-196619800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:196619200-196619800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:196619200-196619800	Enhancers	Fetal Thymus	thymus
15	chr1:196619200-196619800	Enhancers	Psoas Muscle	Psoas
16	chr1:196619200-196619800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:196619200-196620000	Active TSS	HSMM	muscle
18	chr1:196619200-196621000	Flanking Active TSS	Dnd41	blood
19	chr1:196619400-196619600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:196619400-196619600	Active TSS	HSMMtube	muscle
21	chr1:196619400-196619800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr1:196619400-196619800	Enhancers	Fetal Muscle Leg	muscle
23	chr1:196619400-196619800	Flanking Active TSS	K562	blood
24	chr1:196619400-196621400	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr1:196619600-196619800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:196619600-196619800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:196619600-196619800	Flanking Active TSS	HSMMtube	muscle
28	chr1:196619600-196620600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:196619600-196620800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:196619800-196620000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:196619800-196620000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:196619800-196620600	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:196619800-196620600	Weak transcription	Psoas Muscle	Psoas
34	chr1:196619800-196620600	Enhancers	HSMMtube	muscle
35	chr1:196619800-196620800	Weak transcription	Fetal Thymus	thymus
36	chr1:196619800-196621200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:196619800-196623800	Active TSS	K562	blood
38	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:196620000-196620200	Enhancers	Liver	Liver
40	chr1:196620000-196620400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:196620000-196620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:196620000-196620400	Enhancers	HSMM	muscle
43	chr1:196620000-196620600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:196620000-196621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:196620200-196620400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:196620200-196620400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:196620200-196620400	Flanking Active TSS	Liver	Liver
49	chr1:196620200-196620600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:196620200-196620600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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