Variant report

Variant	esv2422188
Chromosome Location	chr7:124782873-125254203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1541)
CpG islands
(count:244)
Chromatin interactive
region (count:87)
LncRNA
region (count:65)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:125245371-125245822	K562	blood:	n/a	n/a
2	ARID3A	chr7:125036847-125037232	K562	blood:	n/a	n/a
3	ARID3A	chr7:125112702-125112705	K562	blood:	n/a	n/a
4	ARID3A	chr7:125235405-125235419	K562	blood:	n/a	n/a
5	ARID3A	chr7:124896704-124896904	K562	blood:	n/a	n/a
6	ARID3A	chr7:125145112-125145113	K562	blood:	n/a	n/a
7	ARID3A	chr7:125238528-125238531	K562	blood:	n/a	n/a
8	ARID3A	chr7:125207883-125208163	K562	blood:	n/a	n/a
9	ATF1	chr7:125036628-125037136	K562	blood:	n/a	n/a
10	ATF1	chr7:125099017-125099154	K562	blood:	n/a	n/a
11	ATF1	chr7:125102482-125102530	K562	blood:	n/a	n/a
12	ATF1	chr7:125155568-125155672	K562	blood:	n/a	n/a
13	ATF2	chr7:124995766-124996416	GM12878	blood:	n/a	n/a
14	ATF2	chr7:125208736-125209317	GM12878	blood:	n/a	n/a
15	ATF2	chr7:125208800-125209277	GM12878	blood:	n/a	n/a
16	ATF2	chr7:124995927-124996331	GM12878	blood:	n/a	n/a
17	ATF3	chr7:124956563-124956950	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr7:124956558-124956827	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr7:125245272-125245589	K562	blood:	n/a	n/a
20	ATF3	chr7:125036857-125037111	K562	blood:	n/a	n/a
21	BACH1	chr7:125245462-125245548	H1-hESC	embryonic stem cell:	n/a	chr7:125245471-125245485
22	BACH1	chr7:125144864-125145256	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr7:125144988-125145184	K562	blood:	n/a	n/a
24	BACH1	chr7:124927356-124927377	K562	blood:	n/a	n/a
25	BACH1	chr7:125250853-125250856	K562	blood:	n/a	n/a
26	BACH1	chr7:124912339-124912344	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr7:125144978-125145174	GM12878	blood:	n/a	chr7:125145074-125145085
28	BATF	chr7:125131056-125131238	GM12878	blood:	n/a	n/a
29	BATF	chr7:124996043-124996381	GM12878	blood:	n/a	n/a
30	BATF	chr7:125208879-125209269	GM12878	blood:	n/a	n/a
31	BATF	chr7:125208852-125209217	GM12878	blood:	n/a	n/a
32	BATF	chr7:124795049-124795303	GM12878	blood:	n/a	n/a
33	BATF	chr7:124996009-124996436	GM12878	blood:	n/a	n/a
34	BCL11A	chr7:125208879-125209307	GM12878	blood:	n/a	n/a
35	BCL11A	chr7:125208927-125209202	GM12878	blood:	n/a	n/a
36	BCL11A	chr7:124995894-124996370	GM12878	blood:	n/a	n/a
37	BCL3	chr7:125208897-125209206	GM12878	blood:	n/a	n/a
38	BCL3	chr7:124995875-124996328	GM12878	blood:	n/a	n/a
39	BCLAF1	chr7:125208875-125209224	GM12878	blood:	n/a	n/a
40	BCLAF1	chr7:125208811-125209257	GM12878	blood:	n/a	n/a
41	BHLHE40	chr7:125178945-125179203	K562	blood:	n/a	chr7:125179077-125179098 chr7:125179081-125179094
42	BHLHE40	chr7:125201165-125201410	GM12878	blood:	n/a	n/a
43	BHLHE40	chr7:125208861-125209208	GM12878	blood:	n/a	n/a
44	BHLHE40	chr7:124995944-124996351	GM12878	blood:	n/a	n/a
45	BHLHE40	chr7:125052988-125053632	GM12878	blood:	n/a	n/a
46	BHLHE40	chr7:125242283-125242313	K562	blood:	n/a	n/a
47	BRCA1	chr7:125131722-125131738	GM12878	blood:	n/a	n/a
48	CBX3	chr7:125099171-125099452	K562	blood:	n/a	n/a
49	CBX3	chr7:125099156-125099430	K562	blood:	n/a	n/a
50	CBX3	chr7:125204088-125204395	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:124904981-124905031	ProgFib	skin:	n/a
2	chr7:124904981-124905031	NH-A	brain:	n/a
3	chr7:124898559-124898609	HCF	heart:	n/a
4	chr7:124821737-124821787	AG04450	lung:	fetal
5	chr7:124898559-124898609	RPTEC	kidney:	n/a
6	chr7:124898559-124898609	NHBE	bronchial:	n/a
7	chr7:124821737-124821787	A549	lung:	n/a
8	chr7:124821737-124821787	HCF	heart:	n/a
9	chr7:124898559-124898609	GM19239	blood:	n/a
10	chr7:124821737-124821787	HRPEpiC	eye:	n/a
11	chr7:124821777-124821827	U87	brain:	n/a
12	chr7:124821737-124821787	H1-hESC	embryonic stem cell:	embryo
13	chr7:124904981-124905031	PFSK-1	brain:	n/a
14	chr7:124898559-124898609	AG10803	skin:	n/a
15	chr7:124904981-124905031	HepG2	liver:	n/a
16	chr7:124904981-124905031	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:124898559-124898609	MCF10A-Er-Src	breast:	n/a
18	chr7:124821737-124821787	NB4	blood:	n/a
19	chr7:124898559-124898609	AG04450	lung:	fetal
20	chr7:124898559-124898609	AG09319	gingival:	n/a
21	chr7:124821737-124821787	BJ	skin:	n/a
22	chr7:124821737-124821787	HepG2	liver:	n/a
23	chr7:124821777-124821827	MCF10A-Er-Src	breast:	n/a
24	chr7:124898559-124898609	K562	blood:	n/a
25	chr7:124898559-124898609	HMEC	breast:	n/a
26	chr7:124904981-124905031	AG09309	skin:	n/a
27	chr7:124904981-124905031	SKMC	muscle:	n/a
28	chr7:124898559-124898609	GM12878	blood:	n/a
29	chr7:124821777-124821827	AG10803	skin:	n/a
30	chr7:124821777-124821827	HMEC	breast:	n/a
31	chr7:124821737-124821787	IMR90	lung:	fetal
32	chr7:124904981-124905031	GM12891	blood:	n/a
33	chr7:124821777-124821827	GM12878	blood:	n/a
34	chr7:124898559-124898609	SK-N-SH	brain:	n/a
35	chr7:124821737-124821787	NT2-D1	testis:	n/a
36	chr7:124898559-124898609	HCM	heart:	n/a
37	chr7:124898559-124898609	HEEpiC	esophagus:	n/a
38	chr7:124898559-124898609	Hepatocyte	liver:	n/a
39	chr7:124904981-124905031	NHBE	bronchial:	n/a
40	chr7:124904981-124905031	HEK293	kidney:	embryo
41	chr7:124821777-124821827	CMK	blood:	n/a
42	chr7:124821777-124821827	RPTEC	kidney:	n/a
43	chr7:124904981-124905031	MCF10A-Er-Src	breast:	n/a
44	chr7:124821777-124821827	HRCEpiC	kidney:	n/a
45	chr7:124904981-124905031	HAEpiC	amniotic membrane:	n/a
46	chr7:124821777-124821827	NT2-D1	testis:	n/a
47	chr7:124898559-124898609	SAEC	small airway:	n/a
48	chr7:124904981-124905031	BE2_C	brain:	n/a
49	chr7:124821777-124821827	K562	blood:	n/a
50	chr7:124898559-124898609	GM12892	blood:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:124914060..124916364-chr7:124917880..124920305,2	K562	blood:
2	chr7:124783039..124785786-chr7:124787614..124790434,2	MCF-7	breast:
3	chr7:125023517..125024026-chr7:125310752..125311652,2	MCF-7	breast:
4	chr7:124965414..124966985-chr7:125006930..125009873,2	K562	blood:
5	chr7:125044926..125048888-chr7:125049294..125054485,5	K562	blood:
6	chr7:125108997..125111782-chr7:125114989..125116888,2	K562	blood:
7	chr7:125218658..125220340-chr7:125222287..125223970,2	K562	blood:
8	chr7:124979372..124981820-chr7:124985278..124987442,3	K562	blood:
9	chr7:125125355..125128224-chr7:125131443..125135163,4	K562	blood:
10	chr7:124855825..124857755-chr7:124906299..124909207,2	MCF-7	breast:
11	chr7:124820580..124823044-chr7:124838776..124840487,2	MCF-7	breast:
12	chr7:125241383..125243591-chr7:125245619..125247438,2	K562	blood:
13	chr4:125278115..125279744-chr7:124830556..124832056,2	MCF-7	breast:
14	chr7:125241383..125243841-chr7:125245305..125247119,2	K562	blood:
15	chr7:124699688..124701477-chr7:124956011..124957871,2	MCF-7	breast:
16	chr7:125241383..125243591-chr7:125245619..125247438,2	K562	blood:
17	chr7:124904732..124906870-chr7:124909560..124912125,2	K562	blood:
18	chr7:125241383..125243841-chr7:125245305..125247119,2	K562	blood:
19	chr7:124965414..124966985-chr7:125006930..125009873,2	K562	blood:
20	chr7:124816634..124819440-chr7:124929772..124932344,2	K562	blood:
21	chr7:125126724..125128959-chr7:125132341..125134111,2	K562	blood:
22	chr7:125070959..125073239-chr7:125075739..125078658,3	K562	blood:
23	chr7:125203772..125205320-chr7:125225530..125228131,2	K562	blood:
24	chr7:124701709..124702473-chr7:124956278..124956931,2	MCF-7	breast:
25	chr7:125089598..125092751-chr7:125096828..125101024,3	K562	blood:
26	chr7:124980320..124982022-chr7:124985560..124987145,2	K562	blood:
27	chr7:125235978..125238946-chr7:125246634..125248463,2	K562	blood:
28	chr7:124701246..124703610-chr7:124820642..124822320,2	MCF-7	breast:
29	chr7:124656588..124658906-chr7:124962987..124965229,2	K562	blood:
30	chr7:125126724..125128959-chr7:125132341..125134111,2	K562	blood:
31	chr7:124904732..124906870-chr7:124909560..124912125,2	K562	blood:
32	chr7:125234594..125236456-chr7:125238613..125240921,2	K562	blood:
33	chr7:125083153..125085780-chr7:125088082..125089929,2	K562	blood:
34	chr7:125234853..125237677-chr7:125237685..125240938,4	K562	blood:
35	chr7:125251686..125253446-chr7:125261235..125263882,2	K562	blood:
36	chr7:125037857..125040245-chr7:125044740..125047619,2	K562	blood:
37	chr7:125014089..125016137-chr7:125017840..125020682,3	K562	blood:
38	chr7:125003566..125005765-chr7:125027328..125029861,2	K562	blood:
39	chr7:125190321..125191930-chr7:125194449..125196273,2	K562	blood:
40	chr7:125205327..125207901-chr7:125208820..125211664,2	K562	blood:
41	chr7:124914060..124916364-chr7:124917880..124920305,2	K562	blood:
42	chr7:125118097..125121016-chr7:125124179..125126346,2	K562	blood:
43	chr7:124699558..124701618-chr7:125055753..125057701,2	K562	blood:
44	chr7:124699717..124700520-chr7:124956250..124957181,4	MCF-7	breast:
45	chr7:125172761..125175135-chr7:125186431..125188601,2	K562	blood:
46	chr7:124682680..124683208-chr7:124956334..124957073,2	MCF-7	breast:
47	chr7:125235978..125238946-chr7:125246634..125248463,2	K562	blood:
48	chr7:125125355..125128224-chr7:125131443..125135163,4	K562	blood:
49	chr7:125226088..125228401-chr7:125230345..125233728,3	K562	blood:
50	chr7:125243932..125247685-chr7:125249366..125252787,4	K562	blood:

(count:65 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-6	chr7:125101535-125101923	NONHSAT123109
2	lnc-POT1-2	chr7:124888355-124888495	NR_110183
3	lnc-SPAM1-5	chr7:124826098-124826546	ENSG00000237764.2
4	lnc-POT1-2	chr7:124899849-124900056	NONHSAT123104
5	lnc-SPAM1-5	chr7:124969736-124969801	NR_110188
6	lnc-POT1-1	chr7:124791380-124791830	XLOC_006593
7	lnc-SPAM1-5	chr7:125019112-125019375	ENSG00000237764.2
8	lnc-POT1-1	chr7:124793517-124793665	XLOC_006593
9	lnc-SPAM1-5	chr7:124835002-124835138	NR_110188
10	lnc-SPAM1-5	chr7:125003489-125003570	NR_110188
11	lnc-SPAM1-6	chr7:125078165-125078351	ENSG00000227869
12	lnc-SPAM1-6	chr7:125071401-125071647	NONHSAT123109
13	lnc-SPAM1-9	chr7:124985879-124986251	NONHSAT123107
14	lnc-SPAM1-5	chr7:124970311-124970457	NR_110188
15	lnc-POT1-2	chr7:124890034-124890111	NONHSAT123104
16	lnc-SPAM1-5	chr7:124969736-124969801	NONHSAT123102
17	lnc-SPAM1-5	chr7:124824623-124824667	ENSG00000237764.2
18	lnc-SPAM1-6	chr7:125101535-125101923	ENSG00000227869
19	lnc-POT1-2	chr7:124890034-124890111	ENSG00000219445
20	lnc-POT1-4	chr7:124800028-124800601	NONHSAT123100
21	lnc-POT1-2	chr7:124869633-124870895	NR_110183
22	lnc-SPAM1-5	chr7:125003489-125003570	NONHSAT123102
23	lnc-POT1-2	chr7:124870622-124870895	NONHSAT123104
24	lnc-SPAM1-6	chr7:125071401-125071647	ENSG00000227869
25	lnc-SPAM1-5	chr7:125003489-125003570	ENSG00000237764.2
26	lnc-SPAM1-5	chr7:124826098-124826546	NONHSAT123102
27	lnc-SPAM1-6	chr7:125078276-125078351	ENSG00000227869
28	lnc-POT1-2	chr7:124904097-124904345	NR_110183
29	lnc-SPAM1-5	chr7:124987179-124987261	ENSG00000237764.2
30	lnc-SPAM1-5	chr7:124975307-124975469	ENSG00000237764.2
31	lnc-POT1-2	chr7:124888355-124888495	NONHSAT123104
32	lnc-SPAM1-5	chr7:124835002-124835138	ENSG00000237764.2
33	lnc-SPAM1-5	chr7:124987179-124987261	NR_110188
34	lnc-SPAM1-4	chr7:124782769-124785288	ENSG00000224897
35	lnc-SPAM1-5	chr7:124975307-124975469	NONHSAT123102
36	lnc-SPAM1-5	chr7:124987179-124987261	NONHSAT123102
37	lnc-SPAM1-5	chr7:124970311-124970457	NONHSAT123102
38	lnc-SPAM1-5	chr7:124835002-124835138	NONHSAT123102
39	lnc-POT1-2	chr7:124869633-124870895	ENSG00000219445
40	lnc-SPAM1-5	chr7:124812272-124812288	ENSG00000237764.2
41	lnc-SPAM1-5	chr7:125019112-125019375	NONHSAT123102
42	lnc-SPAM1-5	chr7:124824624-124824667	NONHSAT123102
43	lnc-SPAM1-6	chr7:125106324-125106455	NONHSAT123109
44	lnc-SPAM1-5	chr7:125019112-125019375	NR_110188
45	lnc-SPAM1-6	chr7:125101535-125101665	ENSG00000227869
46	lnc-POT1-2	chr7:124870580-124870614	NONHSAT123104
47	lnc-SPAM1-5	chr7:124970311-124970457	ENSG00000237764.2
48	lnc-SPAM1-5	chr7:124826098-124826546	NR_110188
49	lnc-POT1-2	chr7:124904097-124904345	ENSG00000219445
50	lnc-SPAM1-6	chr7:125078165-125078351	NONHSAT123109

No data

Variant related genes	Relation type
ENSG00000227869	TF binding region
ENSG00000227847	TF binding region
ENSG00000205898	TF binding region
ENSG00000234071	TF binding region
ENSG00000213291	TF binding region
ENSG00000224899	TF binding region
ENSG00000237764	TF binding region
ENSG00000219445	TF binding region
ENSG00000227869	CpG island
ENSG00000227847	CpG island
ENSG00000205898	CpG island
ENSG00000234071	CpG island
ENSG00000213291	CpG island
ENSG00000224899	CpG island
ENSG00000237764	CpG island
ENSG00000219445	CpG island
ENSG00000227847	chromatin interactions
ENSG00000106302	chromatin interactions
ENSG00000227869	chromatin interactions
SOCS6	miRNA target sites
PHF10	miRNA target sites
ZNF776	miRNA target sites
CDKN2AIP	miRNA target sites
E2F3	miRNA target sites
ILF2	miRNA target sites
HIBADH	miRNA target sites

Extended variants
information (count: 10368 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:10368 , 50 per page) page: 1 2 3 4 5 6 7 ... 208

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550842953	chr7:124782914-124782915	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189409399	chr7:124782924-124782925	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs138012507	chr7:124783002-124783003	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs375627317	chr7:124783007-124783008	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs56056794	chr7:124783027-124783028	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540053910	chr7:124783042-124783043	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs55905546	chr7:124783064-124783065	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs55859595	chr7:124783083-124783084	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181419778	chr7:124783095-124783096	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570246712	chr7:124783192-124783193	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377530271	chr7:124783228-124783229	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs572484169	chr7:124783232-124783233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs199524652	chr7:124783268-124783269	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs540937798	chr7:124783314-124783315	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs564430700	chr7:124783327-124783328	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs554549356	chr7:124783353-124783354	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs543642490	chr7:124783383-124783384	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs563039320	chr7:124783406-124783407	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs375409851	chr7:124783432-124783433	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs528909389	chr7:124783471-124783472	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1902000	chr7:124783481-124783482	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs185906206	chr7:124783488-124783489	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs565302957	chr7:124783561-124783562	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs567807569	chr7:124783575-124783576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs528098004	chr7:124783580-124783581	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs1917705	chr7:124783617-124783618	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs117529768	chr7:124783647-124783648	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs571158849	chr7:124783661-124783662	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs539637941	chr7:124783779-124783780	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs74563786	chr7:124783808-124783809	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs570270156	chr7:124783848-124783849	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs2293346	chr7:124783849-124783850	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs555916460	chr7:124783897-124783898	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs189926151	chr7:124783907-124783908	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs541447953	chr7:124783915-124783916	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs557756463	chr7:124783916-124783917	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs577914023	chr7:124783920-124783921	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs369871170	chr7:124783924-124783925	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs539611974	chr7:124783943-124783944	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs543353974	chr7:124784051-124784052	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs563101752	chr7:124784054-124784055	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs529069055	chr7:124784079-124784080	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs147476011	chr7:124784132-124784133	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs558352391	chr7:124784143-124784144	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs138418275	chr7:124784156-124784157	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs143816132	chr7:124784157-124784158	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs551398884	chr7:124784175-124784176	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs575770432	chr7:124784198-124784199	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs74517781	chr7:124784277-124784278	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs116112508	chr7:124784297-124784298	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20808228	CNVD

Chromatin state (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124778000-124786800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:124783800-124785600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:124784600-124785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:124785600-124789200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:124786800-124787200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:124787000-124787400	Enhancers	HMEC	breast
7	chr7:124787200-124789200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:124789200-124789400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:124789200-124789800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:124798800-124799200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:124819000-124819400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr7:124819400-124821600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:124821600-124821800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr7:124821600-124821800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:124821600-124822000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:124821600-124822200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:124821600-124822200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:124821600-124822200	Active TSS	K562	blood
19	chr7:124821600-124822400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:124821600-124822400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:124821800-124822000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:124821800-124822000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:124821800-124822200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:124821800-124822200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:124822000-124822200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:124822000-124822200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
27	chr7:124822000-124822400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:124822200-124822400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr7:124822200-124829600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:124822400-124827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:124824800-124825400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:124825400-124832400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:124825800-124826400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:124826400-124828200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr7:124827200-124827400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr7:124828600-124828800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:124832400-124833000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:124832600-124834000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr7:124832600-124834000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:124832600-124834200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:124833000-124834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:124833000-124836800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:124833200-124834000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:124833800-124834000	Enhancers	Fetal Brain Male	brain
45	chr7:124834200-124835400	Weak transcription	Fetal Brain Male	brain
46	chr7:124834600-124834800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:124834600-124834800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:124835000-124835200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:124835400-124835800	Enhancers	Fetal Brain Male	brain
50	chr7:124835800-124836800	Weak transcription	Fetal Brain Male	brain

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