Variant report

Variant	esv3394090
Chromosome Location	chr7:124602150-124900799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1280)
CpG islands
(count:489)
Chromatin interactive
region (count:67)
LncRNA
region (count:67)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1280 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:124632397-124633404	K562	blood:	n/a	n/a
2	ARID3A	chr7:124656923-124656953	K562	blood:	n/a	n/a
3	ARID3A	chr7:124700002-124700270	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:124699875-124700188	K562	blood:	n/a	n/a
5	ARID3A	chr7:124637007-124637167	K562	blood:	n/a	n/a
6	ARID3A	chr7:124896704-124896904	K562	blood:	n/a	n/a
7	ARID3A	chr7:124702214-124702414	K562	blood:	n/a	n/a
8	ATF1	chr7:124632844-124633185	K562	blood:	n/a	n/a
9	ATF2	chr7:124738399-124738950	GM12878	blood:	n/a	n/a
10	ATF3	chr7:124702093-124702392	K562	blood:	n/a	n/a
11	ATF3	chr7:124632775-124633232	K562	blood:	n/a	n/a
12	BACH1	chr7:124767606-124767626	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr7:124632839-124633414	K562	blood:	n/a	n/a
14	BACH1	chr7:124702235-124702311	K562	blood:	n/a	n/a
15	BACH1	chr7:124632210-124632237	K562	blood:	n/a	n/a
16	BATF	chr7:124795049-124795303	GM12878	blood:	n/a	n/a
17	BATF	chr7:124702173-124702423	GM12878	blood:	n/a	chr7:124702272-124702283
18	BATF	chr7:124738517-124738718	GM12878	blood:	n/a	chr7:124738608-124738619 chr7:124738609-124738619
19	BATF	chr7:124702194-124702398	GM12878	blood:	n/a	chr7:124702272-124702283
20	BATF	chr7:124738440-124738777	GM12878	blood:	n/a	chr7:124738608-124738619 chr7:124738609-124738619
21	BCL11A	chr7:124776492-124776702	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr7:124702193-124702389	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:124644549-124644599	K562	blood:	n/a	n/a
24	BHLHE40	chr7:124632911-124633233	K562	blood:	n/a	n/a
25	BHLHE40	chr7:124759668-124759931	GM12878	blood:	n/a	n/a
26	BHLHE40	chr7:124738474-124738831	GM12878	blood:	n/a	n/a
27	BHLHE40	chr7:124702123-124702446	GM12878	blood:	n/a	n/a
28	BHLHE40	chr7:124702000-124702384	K562	blood:	n/a	n/a
29	BHLHE40	chr7:124698048-124698259	K562	blood:	n/a	n/a
30	BHLHE40	chr7:124724253-124724254	GM12878	blood:	n/a	n/a
31	BRCA1	chr7:124700024-124700193	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr7:124702033-124702410	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr7:124632774-124633230	K562	blood:	n/a	n/a
34	CCNT2	chr7:124813780-124813862	K562	blood:	n/a	n/a
35	CCNT2	chr7:124745648-124745845	K562	blood:	n/a	n/a
36	CCNT2	chr7:124797085-124797285	K562	blood:	n/a	n/a
37	CCNT2	chr7:124702118-124702419	K562	blood:	n/a	n/a
38	CCNT2	chr7:124899215-124899437	K562	blood:	n/a	n/a
39	CCNT2	chr7:124632875-124633179	K562	blood:	n/a	n/a
40	CEBPB	chr7:124722882-124722994	A549	lung:	n/a	chr7:124722952-124722961
41	CEBPB	chr7:124776367-124776746	ECC-1	luminal epithelium:	n/a	chr7:124776499-124776511
42	CEBPB	chr7:124632938-124633193	K562	blood:	n/a	n/a
43	CEBPB	chr7:124665488-124665855	HepG2	liver:	n/a	n/a
44	CEBPB	chr7:124632731-124633255	MCF-7	breast:	n/a	n/a
45	CEBPB	chr7:124641115-124641235	K562	blood:	n/a	n/a
46	CEBPB	chr7:124799503-124799797	K562	blood:	n/a	chr7:124799654-124799665
47	CEBPB	chr7:124752836-124753259	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr7:124606210-124606293	HepG2	liver:	n/a	n/a
49	CEBPB	chr7:124705644-124705956	IMR90	lung:	n/a	chr7:124705807-124705818
50	CEBPB	chr7:124705649-124705960	A549	lung:	n/a	chr7:124705807-124705818

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:124898559-124898609	ProgFib	skin:	n/a
2	chr7:124898559-124898609	ProgFib	skin:	n/a
3	chr7:124625362-124625412	Caco-2	colon:	n/a
4	chr7:124898559-124898609	HRCEpiC	kidney:	n/a
5	chr7:124633001-124633051	HRE	kidney:	n/a
6	chr7:124765450-124765500	GM12892	blood:	n/a
7	chr7:124625362-124625412	ProgFib	skin:	n/a
8	chr7:124898559-124898609	HCF	heart:	n/a
9	chr7:124821777-124821827	NT2-D1	testis:	n/a
10	chr7:124765425-124765475	PrEC	prostate:	n/a
11	chr7:124898559-124898609	BJ	skin:	n/a
12	chr7:124765450-124765500	ovcar-3	ovarian:	n/a
13	chr7:124765450-124765500	SAEC	small airway:	n/a
14	chr7:124633001-124633051	K562	blood:	n/a
15	chr7:124625362-124625412	PFSK-1	brain:	n/a
16	chr7:124625362-124625412	Hela-S3	cervix:	n/a
17	chr7:124633001-124633051	PrEC	prostate:	n/a
18	chr7:124765471-124765521	Caco-2	colon:	n/a
19	chr7:124625362-124625412	NHDF-neo	bronchial:	n/a
20	chr7:124625362-124625412	HUVEC	blood vessel:	n/a
21	chr7:124633001-124633051	HCM	heart:	n/a
22	chr7:124821777-124821827	GM19239	blood:	n/a
23	chr7:124898559-124898609	NH-A	brain:	n/a
24	chr7:124821777-124821827	T-47D	breast:	n/a
25	chr7:124765471-124765521	SK-N-SH	brain:	n/a
26	chr7:124898559-124898609	MCF-7	breast:	n/a
27	chr7:124765471-124765521	HEEpiC	esophagus:	n/a
28	chr7:124633001-124633051	HL-60	blood:	n/a
29	chr7:124625362-124625412	HNPCEpiC	eye:	n/a
30	chr7:124765471-124765521	GM06990	blood:	n/a
31	chr7:124765471-124765521	NHBE	bronchial:	n/a
32	chr7:124765471-124765521	U87	brain:	n/a
33	chr7:124765471-124765521	ProgFib	skin:	n/a
34	chr7:124821777-124821827	HepG2	liver:	n/a
35	chr7:124625362-124625412	ECC-1	luminal epithelium:	n/a
36	chr7:124765425-124765475	NH-A	brain:	n/a
37	chr7:124821777-124821827	CMK	blood:	n/a
38	chr7:124633001-124633051	ovcar-3	ovarian:	n/a
39	chr7:124765471-124765521	AoSMC	blood vessel:	n/a
40	chr7:124765425-124765475	HAEpiC	amniotic membrane:	n/a
41	chr7:124625362-124625412	HCM	heart:	n/a
42	chr7:124898559-124898609	AoSMC	blood vessel:	n/a
43	chr7:124821777-124821827	PrEC	prostate:	n/a
44	chr7:124633001-124633051	SKMC	muscle:	n/a
45	chr7:124765425-124765475	PANC-1	pancreas:	n/a
46	chr7:124765425-124765475	Jurkat	blood:	n/a
47	chr7:124821777-124821827	Hepatocyte	liver:	n/a
48	chr7:124898559-124898609	IMR90	lung:	fetal
49	chr7:124633001-124633051	U87	brain:	n/a
50	chr7:124821777-124821827	HCF	heart:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:124768386..124770245-chr7:124771796..124774751,2	MCF-7	breast:
2	chr7:124666403..124669373-chr7:124671418..124674369,2	MCF-7	breast:
3	chr7:124641428..124646399-chr7:124650390..124654210,4	K562	blood:
4	chr7:124697959..124699891-chr7:124704188..124706087,2	K562	blood:
5	chr7:124855825..124857755-chr7:124906299..124909207,2	MCF-7	breast:
6	chr7:124610367..124612617-chr7:124646921..124649703,2	K562	blood:
7	chr7:124783039..124785786-chr7:124787614..124790434,2	MCF-7	breast:
8	chr7:124846681..124848535-chr7:125206338..125208006,2	K562	blood:
9	chr7:124651129..124654102-chr7:124654805..124659375,5	K562	blood:
10	chr7:124674442..124676696-chr7:124676789..124679518,2	MCF-7	breast:
11	chr7:124699671..124700472-chr7:125310284..125311293,4	MCF-7	breast:
12	chr7:124878093..124880264-chr7:124889805..124892447,2	MCF-7	breast:
13	chr7:124715890..124718550-chr7:124819406..124822329,2	MCF-7	breast:
14	chr7:124816634..124819440-chr7:124929772..124932344,2	K562	blood:
15	chr7:124783039..124785786-chr7:124787614..124790434,2	MCF-7	breast:
16	chr7:124820580..124823044-chr7:124838776..124840487,2	MCF-7	breast:
17	chr7:124641428..124646399-chr7:124650390..124654210,4	K562	blood:
18	chr7:124728103..124730281-chr7:124737035..124739420,2	K562	blood:
19	chr7:124652094..124654102-chr7:124655952..124659375,3	K562	blood:
20	chr7:124701246..124703610-chr7:124820642..124822320,2	MCF-7	breast:
21	chr7:124570010..124572071-chr7:124632097..124634842,3	MCF-7	breast:
22	chr7:124697959..124699891-chr7:124704188..124706087,2	K562	blood:
23	chr7:124708792..124711418-chr7:124715743..124718371,2	K562	blood:
24	chr7:124652094..124654102-chr7:124655952..124659375,3	K562	blood:
25	chr7:124735275..124737095-chr7:124743479..124745063,2	K562	blood:
26	chr7:124709051..124711137-chr7:124712296..124713913,2	K562	blood:
27	chr7:124708792..124711418-chr7:124715743..124718371,2	K562	blood:
28	chr7:124699688..124701477-chr7:124956011..124957871,2	MCF-7	breast:
29	chr7:124728103..124730281-chr7:124737035..124739420,2	K562	blood:
30	chr7:124610367..124612617-chr7:124646921..124649703,2	K562	blood:
31	chr7:124715890..124718550-chr7:124819406..124822329,2	MCF-7	breast:
32	chr7:124682680..124683208-chr7:124956334..124957073,2	MCF-7	breast:
33	chr7:124704352..124706297-chr7:124709672..124711396,2	K562	blood:
34	chr7:124651129..124654102-chr7:124654805..124659375,5	K562	blood:
35	chr7:124699605..124700536-chr7:124955869..124957164,4	MCF-7	breast:
36	chr7:124701246..124703610-chr7:124820642..124822320,2	MCF-7	breast:
37	chr7:124568419..124570704-chr7:124629136..124631296,2	MCF-7	breast:
38	chr7:124820580..124823044-chr7:124838776..124840487,2	MCF-7	breast:
39	chr7:124606875..124608614-chr7:124609059..124611420,2	MCF-7	breast:
40	chr7:124738749..124741628-chr7:124743456..124745788,2	K562	blood:
41	chr7:124674442..124676696-chr7:124676789..124679518,2	MCF-7	breast:
42	chr7:124794532..124796895-chr7:124797728..124800589,2	K562	blood:
43	chr7:124885290..124887904-chr7:124890626..124892616,2	MCF-7	breast:
44	chr7:124606875..124608614-chr7:124609059..124611420,2	MCF-7	breast:
45	chr7:124735275..124737095-chr7:124743479..124745063,2	K562	blood:
46	chr7:124885290..124887904-chr7:124890626..124892616,2	MCF-7	breast:
47	chr7:124625632..124627676-chr7:124628734..124631039,2	MCF-7	breast:
48	chr7:124699558..124701618-chr7:125055753..125057701,2	K562	blood:
49	chr7:124704797..124707787-chr7:124709672..124712293,2	K562	blood:
50	chr4:125278115..125279744-chr7:124830556..124832056,2	MCF-7	breast:

(count:67 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-5	chr7:124824623-124824667	NR_110188
2	lnc-POT1-2	chr7:124870580-124870614	NONHSAT123104
3	lnc-SPAM1-4	chr7:124765879-124765961	ENSG00000224897
4	lnc-POT1-1	chr7:124791380-124791830	XLOC_006593
5	lnc-POT1-2	chr7:124869633-124870895	ENSG00000219445
6	lnc-SPAM1-5	chr7:124826098-124826546	ENSG00000237764.2
7	lnc-SPAM1-4	chr7:124729744-124729830	ENSG00000224897
8	lnc-POT1-2	chr7:124870622-124870895	NONHSAT123104
9	lnc-SPAM1-4	chr7:124638324-124638458	XLOC_006231
10	lnc-POT1-2	chr7:124888355-124888495	NR_110183
11	lnc-SPAM1-7	chr7:124627790-124627842	NONHSAT123095
12	lnc-POT1-2	chr7:124899849-124900056	NONHSAT123104
13	lnc-SPAM1-4	chr7:124660387-124660467	ENSG00000224897
14	lnc-POT1-2	chr7:124890034-124890111	NONHSAT123104
15	lnc-SPAM1-4	chr7:124782769-124785288	ENSG00000224897
16	lnc-SPAM1-4	chr7:124756928-124757082	ENSG00000224897
17	lnc-POT1-2	chr7:124890034-124890111	NR_110183
18	lnc-SPAM1-4	chr7:124778627-124778713	ENSG00000224897
19	lnc-POT1-2	chr7:124886398-124886584	ENSG00000219445
20	lnc-POT1-1	chr7:124793517-124793665	XLOC_006593
21	lnc-SPAM1-7	chr7:124631917-124632152	NONHSAT123095
22	lnc-SPAM1-4	chr7:124765879-124766031	ENSG00000224897
23	lnc-POT1-3	chr7:124656869-124658131	ucscGeneNc_uc010lky_1
24	lnc-SPAM1-5	chr7:124826098-124826546	NONHSAT123102
25	lnc-POT1-4	chr7:124800028-124800601	NONHSAT123100
26	lnc-POT1-3	chr7:124675591-124675731	ucscGeneNc_uc010lky_1
27	lnc-SPAM1-4	chr7:124739458-124739567	ENSG00000224897
28	lnc-SPAM1-4	chr7:124763035-124763129	ENSG00000224897
29	lnc-SPAM1-5	chr7:124826098-124826546	NR_110188
30	lnc-SPAM1-4	chr7:124739410-124739567	NONHSAT123098
31	lnc-SPAM1-4	chr7:124720766-124720867	ENSG00000224897
32	lnc-SPAM1-5	chr7:124835002-124835138	ENSG00000237764.2
33	lnc-SPAM1-4	chr7:124778627-124778713	ENSG00000224897
34	lnc-SPAM1-4	chr7:124720766-124720867	ENSG00000224897
35	lnc-POT1-3	chr7:124677270-124677347	ucscGeneNc_uc010lky_1
36	lnc-POT1-2	chr7:124888355-124888495	ENSG00000219445
37	lnc-SPAM1-5	chr7:124824624-124824667	NONHSAT123102
38	lnc-SPAM1-4	chr7:124756928-124757082	NONHSAT123098
39	lnc-POT1-2	chr7:124890034-124890111	ENSG00000219445
40	lnc-SPAM1-5	chr7:124835002-124835138	NONHSAT123102
41	lnc-SPAM1-4	chr7:124729744-124729830	ENSG00000224897
42	lnc-POT1-3	chr7:124691333-124691581	ucscGeneNc_uc010lky_1
43	lnc-SPAM1-5	chr7:124835002-124835138	NR_110188
44	lnc-SPAM1-4	chr7:124765879-124766031	ENSG00000224897
45	lnc-SPAM1-4	chr7:124778627-124778713	ENSG00000224897
46	lnc-POT1-3	chr7:124673634-124673820	ucscGeneNc_uc010lky_1
47	lnc-SPAM1-4	chr7:124660387-124660467	ENSG00000224897
48	lnc-SPAM1-5	chr7:124824623-124824667	ENSG00000237764.2
49	lnc-SPAM1-4	chr7:124660387-124660467	ENSG00000224897
50	lnc-SPAM1-4	chr7:124761696-124761897	ENSG00000224897

No data

Variant related genes	Relation type
POT1-AS1	TF binding region
ENSG00000224899	TF binding region
ENSG00000237764	TF binding region
ENSG00000205898	TF binding region
EEF1GP1	TF binding region
POT1-AS1	CpG island
ENSG00000224899	CpG island
ENSG00000237764	CpG island
ENSG00000205898	CpG island
EEF1GP1	CpG island
ENSG00000186676	chromatin interactions
ENSG00000224897	chromatin interactions
ENSG00000128513	chromatin interactions
MYO5C	miRNA target sites
SACM1L	miRNA target sites
YIPF5	miRNA target sites
SPRY2	miRNA target sites
ELAC2	miRNA target sites
CKAP5	miRNA target sites
ING3	miRNA target sites
E2F3	miRNA target sites
GTF2A2	miRNA target sites
ISM2	miRNA target sites
XYLT2	miRNA target sites
PITX1	miRNA target sites
FGL2	miRNA target sites
PHF10	miRNA target sites
CA2	miRNA target sites
ENC1	miRNA target sites
MCL1	miRNA target sites
NUDT15	miRNA target sites
IMPA1	miRNA target sites
ZNF238	miRNA target sites
NOTCH1	miRNA target sites
ZNF776	miRNA target sites
SOCS6	miRNA target sites
CDKN2AIP	miRNA target sites
RRBP1	miRNA target sites
HIBADH	miRNA target sites
CREBZF	miRNA target sites
ARHGAP19	miRNA target sites
ILF2	miRNA target sites

Extended variants
information (count: 6423 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:6423 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567529643	chr7:124602239-124602240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369334173	chr7:124602321-124602322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150345442	chr7:124602342-124602343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138052070	chr7:124602345-124602346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184947351	chr7:124602351-124602352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189065316	chr7:124602374-124602375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181733089	chr7:124602379-124602380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186293276	chr7:124602393-124602394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538562098	chr7:124602427-124602428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375233237	chr7:124602428-124602429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547075043	chr7:124602446-124602447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191536413	chr7:124602456-124602457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181358782	chr7:124602493-124602494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556576411	chr7:124602564-124602565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185959065	chr7:124602567-124602568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189605867	chr7:124604812-124604813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553238853	chr7:124604891-124604892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371022485	chr7:124604897-124604898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147154090	chr7:124604933-124604934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199697104	chr7:124604964-124604965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140422691	chr7:124604981-124604982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558635462	chr7:124605081-124605082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1011721	chr7:124605159-124605160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs1011722	chr7:124605207-124605208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs563628550	chr7:124605222-124605223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574028145	chr7:124605239-124605240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542788776	chr7:124605244-124605245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1011723	chr7:124605261-124605262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs181531205	chr7:124605272-124605273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551541713	chr7:124605282-124605283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565385138	chr7:124605324-124605325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558269720	chr7:124605325-124605326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185171956	chr7:124605336-124605337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551037664	chr7:124605379-124605380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567553900	chr7:124605382-124605383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536579534	chr7:124605397-124605398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575167383	chr7:124612440-124612441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188947413	chr7:124612448-124612449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193072564	chr7:124612449-124612450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557222116	chr7:124612454-124612455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111413970	chr7:124612498-124612499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568196475	chr7:124612506-124612507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199954731	chr7:124612517-124612518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150291617	chr7:124612519-124612520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55830526	chr7:124612520-124612521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185274795	chr7:124612521-124612522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574309000	chr7:124612543-124612544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542830692	chr7:124612609-124612610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553502830	chr7:124612668-124612669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545616405	chr7:124612686-124612687	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Autism	20858243	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124600400-124602400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124602400-124602600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:124604800-124605400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:124612400-124612800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:124629600-124632600	Weak transcription	Stomach Mucosa	stomach
6	chr7:124629800-124630400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:124630000-124630400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:124630200-124630400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:124630200-124630400	Enhancers	Hela-S3	cervix
10	chr7:124630200-124630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:124630200-124630600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:124630200-124630600	Enhancers	NH-A	brain
13	chr7:124630400-124632800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:124630400-124633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:124630600-124631000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:124630600-124631800	Weak transcription	Hela-S3	cervix
17	chr7:124630600-124632200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:124630600-124632400	Weak transcription	NH-A	brain
19	chr7:124631000-124631200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:124631000-124631200	Enhancers	Aorta	Aorta
21	chr7:124631200-124632800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:124631800-124632800	Enhancers	Hela-S3	cervix
23	chr7:124632200-124633200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:124632400-124632800	Enhancers	NH-A	brain
25	chr7:124632600-124633600	Enhancers	Stomach Mucosa	stomach
26	chr7:124632800-124633000	Flanking Active TSS	Hela-S3	cervix
27	chr7:124632800-124633000	Flanking Active TSS	K562	blood
28	chr7:124632800-124633000	Flanking Active TSS	NH-A	brain
29	chr7:124632800-124633200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:124632800-124633200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:124632800-124633200	Enhancers	Osteobl	bone
32	chr7:124632800-124633600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:124632800-124633800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:124632800-124633800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:124632800-124633800	Enhancers	HUVEC	blood vessel
36	chr7:124633000-124633200	Active TSS	K562	blood
37	chr7:124633000-124633400	Active TSS	Hela-S3	cervix
38	chr7:124633000-124633400	Active TSS	NH-A	brain
39	chr7:124633200-124633600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:124633200-124633600	Weak transcription	Aorta	Aorta
41	chr7:124633200-124633600	Flanking Active TSS	K562	blood
42	chr7:124633200-124633600	Active TSS	Osteobl	bone
43	chr7:124633200-124633800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:124633200-124633800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:124633200-124634000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:124633200-124634200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:124633400-124634000	Flanking Active TSS	Hela-S3	cervix
48	chr7:124633400-124634000	Flanking Active TSS	NH-A	brain
49	chr7:124633600-124633800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:124633600-124633800	Flanking Active TSS	Aorta	Aorta

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