Variant report

Variant	nsv538732
Chromosome Location	chr7:11208733-11475112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2144)
CpG islands
(count:550)
Chromatin interactive
region (count:107)
LncRNA
region (count:55)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2144 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:11321430-11322312	K562	blood:	n/a	n/a
2	ARID3A	chr7:11383472-11383822	K562	blood:	n/a	n/a
3	ARID3A	chr7:11467383-11467617	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:11383426-11383809	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:11251750-11252065	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:11287818-11288185	HepG2	liver:	n/a	n/a
7	ATF1	chr7:11321603-11321938	K562	blood:	n/a	n/a
8	ATF1	chr7:11221045-11221594	K562	blood:	n/a	n/a
9	ATF1	chr7:11295980-11296164	K562	blood:	n/a	n/a
10	ATF2	chr7:11232775-11233077	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr7:11371829-11372640	GM12878	blood:	n/a	n/a
12	ATF2	chr7:11371931-11372779	GM12878	blood:	n/a	n/a
13	ATF2	chr7:11224807-11225248	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr7:11224855-11225204	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr7:11232750-11233085	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:11296612-11296698	K562	blood:	n/a	n/a
17	BACH1	chr7:11231364-11231607	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr7:11321579-11321959	K562	blood:	n/a	n/a
19	BATF	chr7:11372058-11372861	GM12878	blood:	n/a	n/a
20	BATF	chr7:11372084-11372588	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:11224931-11225119	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr7:11224826-11225121	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL11A	chr7:11372015-11372572	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:11372128-11372500	GM12878	blood:	n/a	n/a
25	BCL3	chr7:11372163-11372537	GM12878	blood:	n/a	n/a
26	BCL3	chr7:11372096-11372474	GM12878	blood:	n/a	n/a
27	BCLAF1	chr7:11251750-11252062	GM12878	blood:	n/a	n/a
28	BCLAF1	chr7:11372132-11372539	GM12878	blood:	n/a	n/a
29	BHLHE40	chr7:11210726-11210891	GM12878	blood:	n/a	n/a
30	BHLHE40	chr7:11228287-11228806	K562	blood:	n/a	n/a
31	BHLHE40	chr7:11434104-11434404	HepG2	liver:	n/a	n/a
32	BHLHE40	chr7:11258948-11259424	K562	blood:	n/a	n/a
33	BHLHE40	chr7:11253041-11253054	HepG2	liver:	n/a	n/a
34	BHLHE40	chr7:11370523-11370707	GM12878	blood:	n/a	n/a
35	BHLHE40	chr7:11297291-11297301	K562	blood:	n/a	n/a
36	BHLHE40	chr7:11321620-11321922	K562	blood:	n/a	n/a
37	BHLHE40	chr7:11215693-11215816	K562	blood:	n/a	n/a
38	BHLHE40	chr7:11305072-11305074	K562	blood:	n/a	n/a
39	BHLHE40	chr7:11251822-11252032	GM12878	blood:	n/a	n/a
40	BHLHE40	chr7:11372043-11372570	GM12878	blood:	n/a	n/a
41	BRCA1	chr7:11254177-11254219	GM12878	blood:	n/a	n/a
42	CBX3	chr7:11321519-11321993	K562	blood:	n/a	n/a
43	CCNT2	chr7:11217186-11217420	K562	blood:	n/a	n/a
44	CCNT2	chr7:11321665-11322011	K562	blood:	n/a	n/a
45	CEBPB	chr7:11398126-11398437	HepG2	liver:	n/a	chr7:11398183-11398196 chr7:11398285-11398296
46	CEBPB	chr7:11469271-11470056	A549	lung:	n/a	chr7:11469588-11469601 chr7:11469588-11469599 chr7:11469274-11469287
47	CEBPB	chr7:11383410-11383836	ECC-1	luminal epithelium:	n/a	chr7:11383602-11383613 chr7:11383602-11383611
48	CEBPB	chr7:11341173-11341288	K562	blood:	n/a	n/a
49	CEBPB	chr7:11371118-11371494	ECC-1	luminal epithelium:	n/a	chr7:11371313-11371322 chr7:11371313-11371322 chr7:11371313-11371322 chr7:11371311-11371324 chr7:11371312-11371323
50	CEBPB	chr7:11321244-11321372	A549	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:11315835-11315885	HRE	kidney:	n/a
2	chr7:11315835-11315885	HRE	kidney:	n/a
3	chr7:11456440-11456490	AG04449	skin:	fetal
4	chr7:11412105-11412155	U87	brain:	n/a
5	chr7:11291686-11291736	HNPCEpiC	eye:	n/a
6	chr7:11292672-11292722	A549	lung:	n/a
7	chr7:11232035-11232085	T-47D	breast:	n/a
8	chr7:11273481-11273531	SAEC	small airway:	n/a
9	chr7:11273481-11273531	ovcar-3	ovarian:	n/a
10	chr7:11412105-11412155	HEK293	kidney:	embryo
11	chr7:11279531-11279581	LNCaP	prostate:	n/a
12	chr7:11468680-11468730	ECC-1	luminal epithelium:	n/a
13	chr7:11412105-11412155	AG09309	skin:	n/a
14	chr7:11273481-11273531	GM12878	blood:	n/a
15	chr7:11279531-11279581	HNPCEpiC	eye:	n/a
16	chr7:11456440-11456490	Jurkat	blood:	n/a
17	chr7:11232035-11232085	NT2-D1	testis:	n/a
18	chr7:11315835-11315885	HUVEC	blood vessel:	n/a
19	chr7:11273481-11273531	HIPEpiC	eye:	n/a
20	chr7:11315835-11315885	HAEpiC	amniotic membrane:	n/a
21	chr7:11279531-11279581	BE2_C	brain:	n/a
22	chr7:11315835-11315885	SAEC	small airway:	n/a
23	chr7:11291686-11291736	HRCEpiC	kidney:	n/a
24	chr7:11468680-11468730	SAEC	small airway:	n/a
25	chr7:11412105-11412155	HNPCEpiC	eye:	n/a
26	chr7:11273481-11273531	NHBE	bronchial:	n/a
27	chr7:11232035-11232085	AG09309	skin:	n/a
28	chr7:11315835-11315885	PrEC	prostate:	n/a
29	chr7:11456440-11456490	BE2_C	brain:	n/a
30	chr7:11273481-11273531	MCF-7	breast:	n/a
31	chr7:11456440-11456490	AG09319	gingival:	n/a
32	chr7:11456440-11456490	SAEC	small airway:	n/a
33	chr7:11315835-11315885	HCM	heart:	n/a
34	chr7:11468680-11468730	MCF10A-Er-Src	breast:	n/a
35	chr7:11279531-11279581	NB4	blood:	n/a
36	chr7:11232035-11232085	U87	brain:	n/a
37	chr7:11291686-11291736	GM19239	blood:	n/a
38	chr7:11315835-11315885	ECC-1	luminal epithelium:	n/a
39	chr7:11315835-11315885	GM12892	blood:	n/a
40	chr7:11412105-11412155	SKMC	muscle:	n/a
41	chr7:11291686-11291736	PANC-1	pancreas:	n/a
42	chr7:11232035-11232085	GM12891	blood:	n/a
43	chr7:11468680-11468730	SK-N-SH_RA	brain:	n/a
44	chr7:11279531-11279581	GM12891	blood:	n/a
45	chr7:11412105-11412155	RPTEC	kidney:	n/a
46	chr7:11273481-11273531	NH-A	brain:	n/a
47	chr7:11291686-11291736	AG10803	skin:	n/a
48	chr7:11279531-11279581	HL-60	blood:	n/a
49	chr7:11291686-11291736	Jurkat	blood:	n/a
50	chr7:11291686-11291736	H1-hESC	embryonic stem cell:	embryo

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:
2	chr7:11193309..11193972-chr7:11380975..11381751,3	MCF-7	breast:
3	chr7:11466869..11467685-chr7:12498254..12498786,2	MCF-7	breast:
4	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:
5	chr7:11467968..11470082-chr7:11470357..11472664,2	K562	blood:
6	chr7:11300668..11301550-chr7:11377175..11377834,2	MCF-7	breast:
7	chr7:11251355..11252341-chr7:11383095..11384072,2	K562	blood:
8	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
9	chr7:11256893..11259555-chr7:11260673..11263509,2	K562	blood:
10	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
11	chr7:11141677..11144293-chr7:11222755..11224742,2	K562	blood:
12	chr7:11460090..11463607-chr7:11464944..11467497,3	K562	blood:
13	chr7:11251507..11252169-chr7:11380655..11381512,2	MCF-7	breast:
14	chr7:11193047..11193912-chr7:11250807..11251473,2	MCF-7	breast:
15	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
16	chr7:11252043..11254339-chr7:11287708..11289525,2	MCF-7	breast:
17	chr7:11230694..11232235-chr7:11241525..11243997,2	MCF-7	breast:
18	chr7:11271122..11274578-chr7:11276351..11278199,3	MCF-7	breast:
19	chr7:11251355..11252341-chr7:11383095..11384072,2	K562	blood:
20	chr7:10977336..10979714-chr7:11321113..11323195,2	K562	blood:
21	chr17:78500461..78501088-chr7:11221500..11222496,2	HCT-116	colon:
22	chr7:11249621..11251321-chr7:11263470..11265207,2	K562	blood:
23	chr7:11405882..11407841-chr7:11412022..11414441,2	K562	blood:
24	chr7:11192916..11193961-chr7:11251567..11252421,4	MCF-7	breast:
25	chr7:11267687..11270680-chr7:11271994..11274932,4	K562	blood:
26	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
27	chr7:11193091..11193870-chr7:11383205..11383845,2	MCF-7	breast:
28	chr7:11193379..11193920-chr7:11380707..11381612,2	MCF-7	breast:
29	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
30	chr7:11283625..11286458-chr7:11299427..11301201,2	MCF-7	breast:
31	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:
32	chr7:11267788..11269326-chr7:11281868..11283883,2	K562	blood:
33	chr7:11453079..11455917-chr7:11456610..11459458,2	K562	blood:
34	chr6:27880639..27883461-chr7:11306851..11309270,2	MCF-7	breast:
35	chr7:10929007..10929956-chr7:11380303..11381142,3	MCF-7	breast:
36	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
37	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
38	chr7:11253594..11256260-chr7:11264068..11266812,3	MCF-7	breast:
39	chr7:11460090..11463607-chr7:11464944..11467497,3	K562	blood:
40	chr7:11413756..11416647-chr7:11417032..11420437,3	K562	blood:
41	chr7:11260927..11263844-chr7:11265441..11267133,2	MCF-7	breast:
42	chr7:11300390..11302568-chr7:11306434..11309079,2	K562	blood:
43	chr7:11292499..11294774-chr7:11295925..11298788,3	K562	blood:
44	chr7:11268854..11270680-chr7:11272398..11274932,2	K562	blood:
45	chr7:11242328..11245146-chr7:11247823..11250208,3	K562	blood:
46	chr7:11375660..11377782-chr7:11381542..11383525,2	K562	blood:
47	chr7:11467068..11467774-chr7:11597036..11597764,2	MCF-7	breast:
48	chr7:11287653..11289211-chr7:11291988..11294174,2	MCF-7	breast:
49	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
50	chr7:11467369..11467919-chr7:11871403..11872276,3	MCF-7	breast:

(count:55 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-1	chr7:11236934-11237071	ENSG00000230333.1
2	lnc-PHF14-9	chr7:11389949-11391828	ucscGeneNc_uc003ssb_2
3	lnc-PHF14-6	chr7:11342306-11343759	NONHSAT119216
4	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.2
5	lnc-PHF14-1	chr7:11416625-11416708	ENSG00000230333.2
6	lnc-PHF14-8	chr7:11382275-11382281	FPKM1_group_29126_transcript_2
7	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.2
8	lnc-PHF14-1	chr7:11267144-11267282	ENSG00000230333.2
9	lnc-PHF14-1	chr7:11283885-11284106	ENSG00000230333.1
10	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.1
11	lnc-PHF14-1	chr7:11423424-11423496	ENSG00000230333.2
12	lnc-PHF14-7	chr7:11348370-11348437	NONHSAT119217
13	lnc-PHF14-1	chr7:11423424-11424045	ENSG00000230333.1
14	lnc-PHF14-7	chr7:11348370-11348437	FPKM1_group_29119_transcript_1
15	lnc-PHF14-1	chr7:11377320-11377438	ENSG00000230333.2
16	lnc-PHF14-1	chr7:11361876-11361951	ENSG00000230333.1
17	lnc-PHF14-7	chr7:11348441-11348653	FPKM1_group_29119_transcript_1
18	lnc-PHF14-1	chr7:11236934-11237071	ENSG00000230333.1
19	lnc-PHF14-1	chr7:11287920-11288002	ENSG00000230333.1
20	lnc-PHF14-1	chr7:11417505-11417804	ENSG00000230333.2
21	lnc-PHF14-1	chr7:11236937-11237071	ENSG00000230333.1
22	lnc-PHF14-1	chr7:11292740-11292852	ENSG00000230333.1
23	lnc-PHF14-2	chr7:11449918-11450157	NONHSAT119224
24	lnc-PHF14-2	chr7:11453441-11453656	NONHSAT119224
25	lnc-PHF14-7	chr7:11349080-11349292	NONHSAT119217
26	lnc-PHF14-1	chr7:11418914-11418996	ENSG00000230333.1
27	lnc-PHF14-8	chr7:11379524-11380122	NONHSAT119218
28	lnc-THSD7A-1	chr7:11410062-11410947	NONHSAT119219
29	lnc-PHF14-1	chr7:11418914-11418996	ENSG00000230333.1
30	lnc-PHF14-1	chr7:11232993-11233049	ENSG00000230333.1
31	lnc-PHF14-1	chr7:11293826-11295704	NONHSAT119212
32	lnc-THSD7A-2	chr7:11297308-11298162	NONHSAT119215
33	lnc-PHF14-1	chr7:11221359-11221463	ENSG00000230333.2
34	lnc-PHF14-1	chr7:11232993-11233049	ENSG00000230333.1
35	lnc-PHF14-1	chr7:11292257-11293759	NONHSAT119212
36	lnc-PHF14-1	chr7:11283885-11284106	ENSG00000230333.1
37	lnc-PHF14-1	chr7:11236937-11237071	ENSG00000230333.1
38	lnc-PHF14-1	chr7:11267144-11267282	ENSG00000230333.2
39	lnc-PHF14-1	chr7:11292607-11292852	ENSG00000230333.1
40	lnc-PHF14-8	chr7:11382275-11382344	NONHSAT119218
41	lnc-PHF14-1	chr7:11267144-11267282	ENSG00000230333.1
42	lnc-PHF14-1	chr7:11232622-11232677	ENSG00000230333.2
43	lnc-PHF14-1	chr7:11418914-11418996	ENSG00000230333.1
44	lnc-PHF14-1	chr7:11228166-11228261	ENSG00000230333.2
45	lnc-PHF14-9	chr7:11385439-11385521	ucscGeneNc_uc003ssb_2
46	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.1
47	lnc-PHF14-6	chr7:11344275-11345327	NONHSAT119216
48	lnc-PHF14-9	chr7:11259265-11259377	ucscGeneNc_uc003ssb_2
49	lnc-PHF14-8	chr7:11379524-11380122	FPKM1_group_29126_transcript_2
50	lnc-PHF14-1	chr7:11423424-11423535	ENSG00000230333.1

No data

Variant related genes	Relation type
ENSG00000230333	TF binding region
ENSG00000230435	TF binding region
NPM1P11	TF binding region
THSD7A	TF binding region
ENSG00000230333	CpG island
ENSG00000230435	CpG island
NPM1P11	CpG island
THSD7A	CpG island
ENSG00000189043	chromatin interactions
ENSG00000005108	chromatin interactions
ENSG00000106443	chromatin interactions
ENSG00000226827	chromatin interactions
ENSG00000230333	chromatin interactions

Extended variants
information (count: 11604 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:11604 , 50 per page) page: 1 2 3 4 5 6 7 ... 233

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539905030	chr7:11208858-11208859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187934839	chr7:11208889-11208890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531980082	chr7:11208921-11208922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546098108	chr7:11208982-11208983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28394821	chr7:11208989-11208990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376197216	chr7:11208993-11208994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191603302	chr7:11209047-11209048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371122029	chr7:11209058-11209059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375464982	chr7:11209063-11209064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117444431	chr7:11209087-11209088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79953724	chr7:11209141-11209142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148404002	chr7:11209152-11209153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570840437	chr7:11209202-11209203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374261675	chr7:11209288-11209289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537063713	chr7:11209291-11209292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539429558	chr7:11209344-11209345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150723557	chr7:11209372-11209373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556852370	chr7:11209373-11209374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13223329	chr7:11209416-11209417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557057145	chr7:11209429-11209430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111992605	chr7:11209471-11209472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187899714	chr7:11209507-11209508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193032327	chr7:11209573-11209574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545628719	chr7:11209624-11209625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs368654816	chr7:11209639-11209640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369171482	chr7:11209642-11209643	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559489890	chr7:11209673-11209674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs184997987	chr7:11209682-11209683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553561430	chr7:11209719-11209720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188029806	chr7:11209752-11209753	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192122636	chr7:11209772-11209773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76549024	chr7:11209805-11209806	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531497847	chr7:11209807-11209808	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147540384	chr7:11209816-11209817	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561555218	chr7:11209837-11209838	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527449438	chr7:11209864-11209865	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547898795	chr7:11209870-11209871	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73065489	chr7:11209873-11209874	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184716689	chr7:11209874-11209875	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76812969	chr7:11209888-11209889	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552749506	chr7:11210134-11210135	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140229672	chr7:11210143-11210144	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189389921	chr7:11210145-11210146	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192934597	chr7:11210208-11210209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184174177	chr7:11210212-11210213	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs189553577	chr7:11210217-11210218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553863980	chr7:11210232-11210233	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs576854827	chr7:11210243-11210244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147732404	chr7:11210282-11210283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12668838	chr7:11210291-11210292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
2	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
3	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
4	chr7:11156400-11209800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:11168200-11208800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:11169000-11208800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:11170600-11217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:11175400-11213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:11180000-11210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:11183600-11208800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:11189000-11210400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:11189200-11214000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:11190000-11213200	Weak transcription	Dnd41	blood
14	chr7:11193200-11211200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:11195400-11210000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:11198200-11209600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:11199800-11210200	Weak transcription	Fetal Lung	lung
18	chr7:11204200-11213200	Weak transcription	Primary B cells from cord blood	blood
19	chr7:11204400-11217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:11206800-11209400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:11207000-11226000	Weak transcription	Gastric	stomach
22	chr7:11207400-11209600	Weak transcription	Liver	Liver
23	chr7:11208200-11209000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:11208400-11208800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:11208800-11210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:11209000-11209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:11209000-11211400	Weak transcription	HUVEC	blood vessel
28	chr7:11209400-11209600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:11209400-11209600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:11209600-11209800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:11209600-11210000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:11209600-11210200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:11209600-11210600	Enhancers	Liver	Liver
34	chr7:11209600-11210800	Enhancers	Fetal Brain Male	brain
35	chr7:11209800-11210000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr7:11209800-11210200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:11209800-11210200	Enhancers	Colon Smooth Muscle	Colon
38	chr7:11209800-11210200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:11209800-11210400	Enhancers	Brain Angular Gyrus	brain
40	chr7:11210000-11210200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:11210000-11210200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:11210000-11210400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:11210000-11211000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:11210000-11211000	Enhancers	Adipose Nuclei	Adipose
45	chr7:11210000-11211000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr7:11210000-11211600	Enhancers	Fetal Brain Female	brain
47	chr7:11210200-11210600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:11210200-11211800	Enhancers	Fetal Lung	lung
49	chr7:11210600-11211400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr7:11211000-11212200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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