Variant report

Variant	nsv518180
Chromosome Location	chr7:11198193-11475819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2179)
CpG islands
(count:550)
Chromatin interactive
region (count:116)
LncRNA
region (count:55)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2179 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:11383426-11383809	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:11467383-11467617	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:11251750-11252065	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:11321430-11322312	K562	blood:	n/a	n/a
5	ARID3A	chr7:11383472-11383822	K562	blood:	n/a	n/a
6	ARID3A	chr7:11287818-11288185	HepG2	liver:	n/a	n/a
7	ATF1	chr7:11295980-11296164	K562	blood:	n/a	n/a
8	ATF1	chr7:11221045-11221594	K562	blood:	n/a	n/a
9	ATF1	chr7:11321603-11321938	K562	blood:	n/a	n/a
10	ATF2	chr7:11224855-11225204	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr7:11224807-11225248	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:11232775-11233077	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr7:11371931-11372779	GM12878	blood:	n/a	n/a
14	ATF2	chr7:11371829-11372640	GM12878	blood:	n/a	n/a
15	BACH1	chr7:11231364-11231607	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:11232750-11233085	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr7:11296612-11296698	K562	blood:	n/a	n/a
18	BACH1	chr7:11321579-11321959	K562	blood:	n/a	n/a
19	BATF	chr7:11372084-11372588	GM12878	blood:	n/a	n/a
20	BATF	chr7:11372058-11372861	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:11372015-11372572	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:11224826-11225121	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL11A	chr7:11224931-11225119	H1-hESC	embryonic stem cell:	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	chr7:11251822-11252032	GM12878	blood:	n/a	n/a
30	BHLHE40	chr7:11297291-11297301	K562	blood:	n/a	n/a
31	BHLHE40	chr7:11215693-11215816	K562	blood:	n/a	n/a
32	BHLHE40	chr7:11258948-11259424	K562	blood:	n/a	n/a
33	BHLHE40	chr7:11228287-11228806	K562	blood:	n/a	n/a
34	BHLHE40	chr7:11253041-11253054	HepG2	liver:	n/a	n/a
35	BHLHE40	chr7:11321620-11321922	K562	blood:	n/a	n/a
36	BHLHE40	chr7:11372043-11372570	GM12878	blood:	n/a	n/a
37	BHLHE40	chr7:11305072-11305074	K562	blood:	n/a	n/a
38	BHLHE40	chr7:11370523-11370707	GM12878	blood:	n/a	n/a
39	BHLHE40	chr7:11434104-11434404	HepG2	liver:	n/a	n/a
40	BHLHE40	chr7:11210726-11210891	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	chr7:11321665-11322011	K562	blood:	n/a	n/a
44	CCNT2	chr7:11217186-11217420	K562	blood:	n/a	n/a
45	CEBPB	chr7:11410088-11410342	A549	lung:	n/a	chr7:11410273-11410286 chr7:11410275-11410284 chr7:11410275-11410284 chr7:11410275-11410284 chr7:11410274-11410285
46	CEBPB	chr7:11371136-11371507	ECC-1	luminal epithelium:	n/a	chr7:11371313-11371322 chr7:11371313-11371322 chr7:11371313-11371322 chr7:11371311-11371324 chr7:11371312-11371323
47	CEBPB	chr7:11300941-11301574	MCF-7	breast:	n/a	n/a
48	CEBPB	chr7:11405752-11406092	HepG2	liver:	n/a	chr7:11405989-11406001 chr7:11405933-11405944
49	CEBPB	chr7:11454605-11454883	H1-hESC	embryonic stem cell:	n/a	chr7:11454732-11454743
50	CEBPB	chr7:11383284-11383846	A549	lung:	n/a	chr7:11383602-11383613 chr7:11383602-11383611

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:11468680-11468730	Caco-2	colon:	n/a
2	chr7:11468680-11468730	Caco-2	colon:	n/a
3	chr7:11279531-11279581	Jurkat	blood:	n/a
4	chr7:11279531-11279581	PrEC	prostate:	n/a
5	chr7:11412105-11412155	NT2-D1	testis:	n/a
6	chr7:11292672-11292722	MCF10A-Er-Src	breast:	n/a
7	chr7:11273481-11273531	RPTEC	kidney:	n/a
8	chr7:11315835-11315885	ProgFib	skin:	n/a
9	chr7:11232035-11232085	ECC-1	luminal epithelium:	n/a
10	chr7:11273481-11273531	HAEpiC	amniotic membrane:	n/a
11	chr7:11456440-11456490	U87	brain:	n/a
12	chr7:11315835-11315885	HEEpiC	esophagus:	n/a
13	chr7:11456440-11456490	MCF10A-Er-Src	breast:	n/a
14	chr7:11292672-11292722	HCF	heart:	n/a
15	chr7:11456440-11456490	Caco-2	colon:	n/a
16	chr7:11456440-11456490	RPTEC	kidney:	n/a
17	chr7:11412105-11412155	Caco-2	colon:	n/a
18	chr7:11456440-11456490	NT2-D1	testis:	n/a
19	chr7:11232035-11232085	NHDF-neo	bronchial:	n/a
20	chr7:11273481-11273531	AG04450	lung:	fetal
21	chr7:11468680-11468730	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:11291686-11291736	AG09319	gingival:	n/a
23	chr7:11412105-11412155	GM12892	blood:	n/a
24	chr7:11315835-11315885	U87	brain:	n/a
25	chr7:11468680-11468730	MCF10A-Er-Src	breast:	n/a
26	chr7:11456440-11456490	HAEpiC	amniotic membrane:	n/a
27	chr7:11292672-11292722	HRCEpiC	kidney:	n/a
28	chr7:11232035-11232085	GM12891	blood:	n/a
29	chr7:11232035-11232085	HEK293	kidney:	embryo
30	chr7:11468680-11468730	HCPEpiC	choroid plexus:	n/a
31	chr7:11292672-11292722	HEK293	kidney:	embryo
32	chr7:11279531-11279581	T-47D	breast:	n/a
33	chr7:11292672-11292722	BE2_C	brain:	n/a
34	chr7:11412105-11412155	CMK	blood:	n/a
35	chr7:11292672-11292722	GM12892	blood:	n/a
36	chr7:11292672-11292722	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:11279531-11279581	PANC-1	pancreas:	n/a
38	chr7:11279531-11279581	HUVEC	blood vessel:	n/a
39	chr7:11291686-11291736	SKMC	muscle:	n/a
40	chr7:11315835-11315885	A549	lung:	n/a
41	chr7:11315835-11315885	GM19239	blood:	n/a
42	chr7:11468680-11468730	ProgFib	skin:	n/a
43	chr7:11456440-11456490	NHBE	bronchial:	n/a
44	chr7:11279531-11279581	GM06990	blood:	n/a
45	chr7:11279531-11279581	K562	blood:	n/a
46	chr7:11273481-11273531	HMEC	breast:	n/a
47	chr7:11291686-11291736	HRE	kidney:	n/a
48	chr7:11468680-11468730	GM12891	blood:	n/a
49	chr7:11412105-11412155	SAEC	small airway:	n/a
50	chr7:11315835-11315885	Jurkat	blood:	n/a

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:11271128..11274673-chr7:11275122..11277135,3	MCF-7	breast:
2	chr7:11252043..11254339-chr7:11287708..11289525,2	MCF-7	breast:
3	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
4	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
5	chr7:11252043..11254339-chr7:11287708..11289525,2	MCF-7	breast:
6	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:
7	chr17:56332401..56332956-chr7:11310992..11311492,2	MCF-7	breast:
8	chr7:11467369..11467919-chr7:11871403..11872276,3	MCF-7	breast:
9	chr7:11229782..11232630-chr7:11260914..11263136,3	K562	blood:
10	chr7:11010971..11012619-chr7:11259384..11261240,2	MCF-7	breast:
11	chr7:11256893..11259555-chr7:11260673..11263509,2	K562	blood:
12	chr7:11260927..11263844-chr7:11265441..11267133,2	MCF-7	breast:
13	chr7:11300390..11302568-chr7:11306434..11309079,2	K562	blood:
14	chr7:11405882..11407841-chr7:11412022..11414441,2	K562	blood:
15	chr7:11256893..11259555-chr7:11260673..11263509,2	K562	blood:
16	chr7:11460090..11463607-chr7:11464944..11467497,3	K562	blood:
17	chr7:11292499..11294774-chr7:11295925..11298788,3	K562	blood:
18	chr7:11282275..11284554-chr7:11292723..11294327,2	MCF-7	breast:
19	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:
20	chr7:11287653..11289211-chr7:11291988..11294174,2	MCF-7	breast:
21	chr7:11413756..11416647-chr7:11417032..11420437,3	K562	blood:
22	chr7:11277040..11279683-chr7:11299557..11301437,2	MCF-7	breast:
23	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
24	chr7:11271122..11274578-chr7:11276351..11278199,3	MCF-7	breast:
25	chr7:11244458..11249354-chr7:11252765..11256676,5	MCF-7	breast:
26	chr7:10977336..10979714-chr7:11321113..11323195,2	K562	blood:
27	chr7:11270835..11273820-chr7:11282821..11286972,3	MCF-7	breast:
28	chr7:11310747..11312959-chr7:11363468..11365814,2	MCF-7	breast:
29	chr7:11251355..11252341-chr7:11383095..11384072,2	K562	blood:
30	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
31	chr7:11242328..11245146-chr7:11247823..11250208,3	K562	blood:
32	chr7:11230694..11232235-chr7:11241525..11243997,2	MCF-7	breast:
33	chr7:11244458..11249354-chr7:11252765..11256676,5	MCF-7	breast:
34	chr7:11271122..11274578-chr7:11276351..11278199,3	MCF-7	breast:
35	chr7:11196790..11199292-chr7:11202946..11205439,2	K562	blood:
36	chr7:11265557..11267999-chr7:11268815..11270353,2	K562	blood:
37	chr7:11267687..11270680-chr7:11271994..11274932,4	K562	blood:
38	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:
39	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
40	chr7:11305179..11307568-chr7:11307740..11310059,2	K562	blood:
41	chr7:11453079..11455917-chr7:11456610..11459458,2	K562	blood:
42	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
43	chr7:11305179..11307568-chr7:11307740..11310059,2	K562	blood:
44	chr7:11249621..11251321-chr7:11263470..11265207,2	K562	blood:
45	chr7:11197789..11199466-chr7:11199534..11202480,2	K562	blood:
46	chr7:11245322..11247054-chr7:11253506..11255264,2	K562	blood:
47	chr7:11196790..11199292-chr7:11202946..11205439,2	K562	blood:
48	chr7:11283625..11286458-chr7:11299427..11301201,2	MCF-7	breast:
49	chr7:11460090..11463607-chr7:11464944..11467497,3	K562	blood:
50	chr7:11229782..11232630-chr7:11260914..11263136,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-1	chr7:11292257-11293759	NONHSAT119212
2	lnc-PHF14-1	chr7:11236937-11237071	ENSG00000230333.2
3	lnc-PHF14-9	chr7:11385439-11385521	ucscGeneNc_uc003ssb_2
4	lnc-PHF14-1	chr7:11236934-11237071	ENSG00000230333.1
5	lnc-PHF14-7	chr7:11348370-11348437	FPKM1_group_29119_transcript_1
6	lnc-PHF14-1	chr7:11423424-11425305	ENSG00000230333.1
7	lnc-PHF14-1	chr7:11236937-11237071	ENSG00000230333.1
8	lnc-PHF14-1	chr7:11292740-11292852	ENSG00000230333.1
9	lnc-PHF14-1	chr7:11418324-11418996	ENSG00000230333.2
10	lnc-PHF14-1	chr7:11423424-11423496	ENSG00000230333.2
11	lnc-PHF14-6	chr7:11344275-11345327	NONHSAT119216
12	lnc-PHF14-1	chr7:11416625-11416708	ENSG00000230333.2
13	lnc-PHF14-6	chr7:11342306-11343759	NONHSAT119216
14	lnc-PHF14-1	chr7:11423424-11424045	ENSG00000230333.1
15	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.2
16	lnc-PHF14-1	chr7:11417505-11417804	ENSG00000230333.2
17	lnc-PHF14-1	chr7:11377320-11377438	ENSG00000230333.2
18	lnc-PHF14-1	chr7:11232622-11232677	ENSG00000230333.2
19	lnc-PHF14-8	chr7:11382275-11382281	FPKM1_group_29126_transcript_2
20	lnc-PHF14-1	chr7:11267144-11267282	ENSG00000230333.2
21	lnc-PHF14-2	chr7:11453441-11453656	NONHSAT119224
22	lnc-PHF14-7	chr7:11349080-11349292	NONHSAT119217
23	lnc-PHF14-2	chr7:11449918-11450157	NONHSAT119224
24	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.2
25	lnc-PHF14-8	chr7:11382275-11382344	NONHSAT119218
26	lnc-PHF14-1	chr7:11267144-11267282	ENSG00000230333.2
27	lnc-PHF14-1	chr7:11236937-11237071	ENSG00000230333.1
28	lnc-PHF14-1	chr7:11228166-11228261	ENSG00000230333.2
29	lnc-PHF14-1	chr7:11232993-11233049	ENSG00000230333.1
30	lnc-PHF14-1	chr7:11293826-11295704	NONHSAT119212
31	lnc-THSD7A-1	chr7:11410062-11410947	NONHSAT119219
32	lnc-PHF14-1	chr7:11418914-11418996	ENSG00000230333.1
33	lnc-PHF14-1	chr7:11287920-11288002	ENSG00000230333.1
34	lnc-PHF14-1	chr7:11232993-11233049	ENSG00000230333.1
35	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.1
36	lnc-PHF14-1	chr7:11418914-11418993	ENSG00000230333.1
37	lnc-PHF14-9	chr7:11389949-11391828	ucscGeneNc_uc003ssb_2
38	lnc-PHF14-1	chr7:11418914-11418996	ENSG00000230333.1
39	lnc-PHF14-1	chr7:11266645-11266691	ENSG00000230333.1
40	lnc-PHF14-1	chr7:11283885-11284106	ENSG00000230333.1
41	lnc-PHF14-1	chr7:11361876-11361951	ENSG00000230333.1
42	lnc-PHF14-1	chr7:11283885-11284106	ENSG00000230333.1
43	lnc-PHF14-1	chr7:11236934-11237071	ENSG00000230333.1
44	lnc-PHF14-7	chr7:11348370-11348437	NONHSAT119217
45	lnc-PHF14-8	chr7:11379524-11380122	FPKM1_group_29126_transcript_2
46	lnc-PHF14-7	chr7:11348441-11348653	FPKM1_group_29119_transcript_1
47	lnc-THSD7A-2	chr7:11297308-11298162	NONHSAT119215
48	lnc-PHF14-9	chr7:11259265-11259377	ucscGeneNc_uc003ssb_2
49	lnc-PHF14-8	chr7:11379524-11380122	NONHSAT119218
50	lnc-PHF14-1	chr7:11418914-11418996	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
ENSG00000230333	chromatin interactions
ENSG00000189043	chromatin interactions
ENSG00000226827	chromatin interactions
ENSG00000106443	chromatin interactions
ENSG00000005108	chromatin interactions

Extended variants
information (count: 12036 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:12036 , 50 per page) page: 1 2 3 4 5 6 7 ... 241

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10279430	chr7:11198193-11198194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182170520	chr7:11198224-11198225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549470615	chr7:11198266-11198267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114842222	chr7:11198271-11198272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112807225	chr7:11198274-11198275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144167142	chr7:11198296-11198297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73679507	chr7:11198300-11198301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs372710656	chr7:11198307-11198308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112822978	chr7:11198331-11198332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542962719	chr7:11198412-11198413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186846819	chr7:11198414-11198415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557332048	chr7:11198420-11198421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77162211	chr7:11198421-11198422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536420169	chr7:11198422-11198423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190064013	chr7:11198425-11198426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571792733	chr7:11198513-11198514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75088490	chr7:11198552-11198553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182078616	chr7:11198595-11198596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376458906	chr7:11198625-11198626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543709468	chr7:11198633-11198634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547096512	chr7:11198643-11198644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185634252	chr7:11198678-11198679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529107658	chr7:11198714-11198715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542435564	chr7:11198735-11198736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141335312	chr7:11198796-11198797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190398989	chr7:11198836-11198837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62438684	chr7:11198855-11198856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374406203	chr7:11198877-11198878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111586769	chr7:11198900-11198901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115013884	chr7:11198903-11198904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201539409	chr7:11198927-11198928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115652333	chr7:11198994-11198995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567845058	chr7:11199126-11199127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533092107	chr7:11199130-11199131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549978123	chr7:11199172-11199173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7798427	chr7:11199180-11199181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370866789	chr7:11199189-11199190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565485679	chr7:11199248-11199249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182281192	chr7:11199328-11199329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185319659	chr7:11199333-11199334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577234202	chr7:11199335-11199336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547804585	chr7:11199404-11199405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7802053	chr7:11199440-11199441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565838979	chr7:11199518-11199519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543211190	chr7:11199552-11199553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56071938	chr7:11199559-11199560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190869241	chr7:11199581-11199582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559581373	chr7:11199597-11199598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111978077	chr7:11199618-11199619	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545535955	chr7:11199682-11199683	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:1460 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

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	chr7:11118000-11199000	Weak transcription	HSMM	muscle
5	chr7:11156400-11209800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:11157000-11199600	Weak transcription	Fetal Lung	lung
7	chr7:11168200-11208800	Weak transcription	Primary T cells from cord blood	blood
8	chr7:11169000-11208800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:11170600-11217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:11170800-11198200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:11170800-11199400	Weak transcription	Psoas Muscle	Psoas
12	chr7:11170800-11199800	Weak transcription	Primary B cells from cord blood	blood
13	chr7:11173400-11199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:11175400-11199600	Weak transcription	Left Ventricle	heart
15	chr7:11175400-11206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:11175400-11213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:11175800-11201400	Weak transcription	A549	lung
18	chr7:11180000-11210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:11183600-11208800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:11184800-11200200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:11188200-11208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:11189000-11210400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:11189200-11214000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:11190000-11213200	Weak transcription	Dnd41	blood
25	chr7:11193200-11211200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:11195400-11210000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:11198200-11209600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:11199600-11199800	ZNF genes & repeats	Fetal Lung	lung
29	chr7:11199600-11199800	ZNF genes & repeats	Left Ventricle	heart
30	chr7:11199600-11200200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:11199800-11200000	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr7:11199800-11210200	Weak transcription	Fetal Lung	lung
33	chr7:11200000-11203200	Weak transcription	Primary B cells from cord blood	blood
34	chr7:11200200-11208400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:11200600-11205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:11203200-11204200	Strong transcription	Primary B cells from cord blood	blood
37	chr7:11203600-11203800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:11204000-11205200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:11204200-11213200	Weak transcription	Primary B cells from cord blood	blood
40	chr7:11204400-11217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:11205200-11205800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:11205800-11208200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:11206800-11209400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:11207000-11226000	Weak transcription	Gastric	stomach
45	chr7:11207400-11209600	Weak transcription	Liver	Liver
46	chr7:11208200-11209000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:11208400-11208600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:11208400-11208800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:11208800-11210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:11209000-11209400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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