Variant report

Variant	nsv491610
Chromosome Location	chr7:71422560-71803630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1033)
CpG islands
(count:1101)
Chromatin interactive
region (count:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1033 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:71566408-71566651	K562	blood:	n/a	n/a
2	ARID3A	chr7:71617750-71618104	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:71455218-71455241	K562	blood:	n/a	n/a
4	ATF1	chr7:71748535-71748603	K562	blood:	n/a	n/a
5	ATF1	chr7:71566508-71566836	K562	blood:	n/a	n/a
6	ATF1	chr7:71441751-71441900	K562	blood:	n/a	n/a
7	ATF1	chr7:71503138-71503299	K562	blood:	n/a	n/a
8	ATF1	chr7:71502563-71502734	K562	blood:	n/a	n/a
9	ATF1	chr7:71455137-71455357	K562	blood:	n/a	n/a
10	ATF2	chr7:71730568-71730921	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr7:71730494-71730993	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr7:71472043-71472292	K562	blood:	n/a	n/a
13	BACH1	chr7:71532876-71532877	K562	blood:	n/a	n/a
14	BACH1	chr7:71676233-71676530	K562	blood:	n/a	n/a
15	BACH1	chr7:71676169-71676646	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:71800945-71801571	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr7:71799942-71799978	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr7:71801868-71802965	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr7:71635548-71635785	GM12878	blood:	n/a	n/a
20	BATF	chr7:71674059-71674398	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:71674079-71674389	GM12878	blood:	n/a	n/a
22	BCL3	chr7:71684529-71684809	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:71472048-71472269	HepG2	liver:	n/a	n/a
24	BHLHE40	chr7:71441508-71442071	K562	blood:	n/a	n/a
25	BHLHE40	chr7:71482409-71482546	K562	blood:	n/a	n/a
26	BHLHE40	chr7:71437671-71437780	K562	blood:	n/a	n/a
27	BHLHE40	chr7:71534366-71534433	K562	blood:	n/a	n/a
28	BHLHE40	chr7:71441760-71441968	HepG2	liver:	n/a	n/a
29	BHLHE40	chr7:71566539-71566915	K562	blood:	n/a	n/a
30	BHLHE40	chr7:71546282-71546344	GM12878	blood:	n/a	n/a
31	BHLHE40	chr7:71471980-71472347	K562	blood:	n/a	n/a
32	BHLHE40	chr7:71588969-71589244	HepG2	liver:	n/a	n/a
33	BHLHE40	chr7:71441707-71442056	GM12878	blood:	n/a	n/a
34	BHLHE40	chr7:71617595-71618001	HepG2	liver:	n/a	n/a
35	BHLHE40	chr7:71730295-71730461	K562	blood:	n/a	n/a
36	CCNT2	chr7:71566482-71566783	K562	blood:	n/a	n/a
37	CEBPB	chr7:71520530-71520682	HepG2	liver:	n/a	chr7:71520613-71520624 chr7:71520612-71520623
38	CEBPB	chr7:71530782-71531127	K562	blood:	n/a	chr7:71530941-71530952
39	CEBPB	chr7:71711676-71711904	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr7:71721022-71721087	HepG2	liver:	n/a	chr7:71721064-71721077
41	CEBPB	chr7:71518428-71518648	K562	blood:	n/a	chr7:71518594-71518607
42	CEBPB	chr7:71614550-71614874	HepG2	liver:	n/a	chr7:71614702-71614713
43	CEBPB	chr7:71711658-71711926	K562	blood:	n/a	n/a
44	CEBPB	chr7:71752628-71752861	HepG2	liver:	n/a	n/a
45	CEBPB	chr7:71452405-71452773	A549	lung:	n/a	chr7:71452584-71452593 chr7:71452584-71452593 chr7:71452584-71452593 chr7:71452581-71452598
46	CEBPB	chr7:71530790-71531096	H1-hESC	embryonic stem cell:	n/a	chr7:71530941-71530952
47	CEBPB	chr7:71530798-71531110	IMR90	lung:	n/a	chr7:71530941-71530952
48	CEBPB	chr7:71723036-71723330	IMR90	lung:	n/a	chr7:71723174-71723185
49	CEBPB	chr7:71452385-71452754	MCF-7	breast:	n/a	chr7:71452584-71452593 chr7:71452584-71452593 chr7:71452584-71452593 chr7:71452581-71452598
50	CEBPB	chr7:71723021-71723355	HepG2	liver:	n/a	chr7:71723174-71723185

(count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:71802184-71802234	AG04450	lung:	fetal
2	chr7:71747632-71747682	A549	lung:	n/a
3	chr7:71799220-71799270	HepG2	liver:	n/a
4	chr7:71802184-71802234	AG04450	lung:	fetal
5	chr7:71747632-71747682	A549	lung:	n/a
6	chr7:71799220-71799270	HepG2	liver:	n/a
7	chr7:71799177-71799227	BJ	skin:	n/a
8	chr7:71798428-71798478	HL-60	blood:	n/a
9	chr7:71799220-71799270	CMK	blood:	n/a
10	chr7:71802184-71802234	ECC-1	luminal epithelium:	n/a
11	chr7:71682306-71682356	HEK293	kidney:	embryo
12	chr7:71682306-71682356	GM06990	blood:	n/a
13	chr7:71803433-71803483	H1-hESC	embryonic stem cell:	embryo
14	chr7:71801793-71801843	BE2_C	brain:	n/a
15	chr7:71803433-71803483	SK-N-MC	brain:	n/a
16	chr7:71744787-71744837	AoSMC	blood vessel:	n/a
17	chr7:71801793-71801843	HUVEC	blood vessel:	n/a
18	chr7:71801535-71801585	T-47D	breast:	n/a
19	chr7:71744787-71744837	HRE	kidney:	n/a
20	chr7:71800987-71801037	MCF10A-Er-Src	breast:	n/a
21	chr7:71799982-71800032	MCF-7	breast:	n/a
22	chr7:71802574-71802624	HCPEpiC	choroid plexus:	n/a
23	chr7:71747028-71747078	ProgFib	skin:	n/a
24	chr7:71802184-71802234	HepG2	liver:	n/a
25	chr7:71578347-71578397	GM06990	blood:	n/a
26	chr7:71682306-71682356	HCPEpiC	choroid plexus:	n/a
27	chr7:71799982-71800032	HCF	heart:	n/a
28	chr7:71799177-71799227	AG09319	gingival:	n/a
29	chr7:71803123-71803173	PrEC	prostate:	n/a
30	chr7:71801535-71801585	HL-60	blood:	n/a
31	chr7:71802574-71802624	Hepatocyte	liver:	n/a
32	chr7:71747028-71747078	NT2-D1	testis:	n/a
33	chr7:71578347-71578397	GM19239	blood:	n/a
34	chr7:71798428-71798478	IMR90	lung:	fetal
35	chr7:71744787-71744837	BJ	skin:	n/a
36	chr7:71799982-71800032	HCT-116	colon:	n/a
37	chr7:71747028-71747078	Hela-S3	cervix:	n/a
38	chr7:71729065-71729115	RPTEC	kidney:	n/a
39	chr7:71682306-71682356	SK-N-MC	brain:	n/a
40	chr7:71803123-71803173	SKMC	muscle:	n/a
41	chr7:71682306-71682356	RPTEC	kidney:	n/a
42	chr7:71799982-71800032	HRPEpiC	eye:	n/a
43	chr7:71800987-71801037	Hepatocyte	liver:	n/a
44	chr7:71799220-71799270	MCF10A-Er-Src	breast:	n/a
45	chr7:71802184-71802234	NHDF-neo	bronchial:	n/a
46	chr7:71799220-71799270	HCM	heart:	n/a
47	chr7:71747632-71747682	AG04449	skin:	fetal
48	chr7:71802574-71802624	SK-N-SH	brain:	n/a
49	chr7:71801793-71801843	AG10803	skin:	n/a
50	chr7:71578347-71578397	HCM	heart:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:71752349..71754126-chr7:71756443..71759399,2	K562	blood:
2	chr7:71452826..71454470-chr7:71455028..71457199,2	MCF-7	breast:
3	chr7:71648521..71649566-chr7:71958858..71959802,3	MCF-7	breast:
4	chr7:71585300..71586969-chr7:71589158..71591405,2	K562	blood:
5	chr7:71549650..71551366-chr7:71562854..71564713,2	K562	blood:
6	chr7:71390493..71391255-chr7:71799190..71800147,2	MCF-7	breast:
7	chr7:71526544..71528574-chr7:71533413..71536214,2	K562	blood:
8	chr7:71549650..71551366-chr7:71562854..71564713,2	K562	blood:
9	chr7:71642905..71645487-chr7:71655969..71658022,2	K562	blood:
10	chr7:71663421..71665320-chr7:71669615..71672136,2	K562	blood:
11	chr7:71765415..71767059-chr7:71769100..71770926,2	K562	blood:
12	chr7:71721877..71723519-chr7:71725703..71728534,2	K562	blood:
13	chr7:71743468..71744150-chr7:71798805..71799347,2	MCF-7	breast:
14	chr7:71526544..71528574-chr7:71533413..71536214,2	K562	blood:
15	chr7:71544603..71546705-chr7:71548451..71549976,2	K562	blood:
16	chr7:71628262..71630650-chr7:71934094..71936911,2	K562	blood:
17	chr7:71789897..71791400-chr7:71794472..71797210,2	K562	blood:
18	chr7:71730756..71733410-chr7:71737455..71739236,2	K562	blood:
19	chr7:71721716..71724334-chr7:71739335..71741214,2	K562	blood:
20	chr7:71765415..71767059-chr7:71769100..71770926,2	K562	blood:
21	chr7:71752349..71754126-chr7:71756443..71759399,2	K562	blood:
22	chr7:71789897..71791400-chr7:71794472..71797210,2	K562	blood:
23	chr7:71663421..71665320-chr7:71669615..71672136,2	K562	blood:
24	chr6:30851925..30854155-chr7:71462779..71465346,2	MCF-7	breast:
25	chr7:71721716..71724334-chr7:71739335..71741214,2	K562	blood:
26	chr7:71390296..71390850-chr7:71798734..71799708,2	K562	blood:
27	chr7:71721877..71723519-chr7:71725703..71728534,2	K562	blood:
28	chr7:71318085..71319740-chr7:71534697..71536684,2	K562	blood:
29	chr7:71724576..71726876-chr7:71731815..71733875,3	K562	blood:
30	chr7:71430764..71432829-chr7:71445344..71447656,2	K562	blood:
31	chr7:71585300..71586969-chr7:71589158..71591405,2	K562	blood:
32	chr7:71642905..71645487-chr7:71655969..71658022,2	K562	blood:
33	chr1:64494077..64494875-chr7:71705794..71706323,2	MCF-7	breast:
34	chr7:71730756..71733410-chr7:71737455..71739236,2	K562	blood:
35	chr7:71593896..71596339-chr7:71598361..71599867,2	K562	blood:
36	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
37	chr7:71586492..71588717-chr7:71593112..71596072,2	K562	blood:
38	chr7:71544603..71546705-chr7:71548451..71549976,2	K562	blood:
39	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
40	chr7:71593896..71596339-chr7:71598361..71599867,2	K562	blood:
41	chr7:71724576..71726876-chr7:71731815..71733875,3	K562	blood:
42	chr7:71430764..71432829-chr7:71445344..71447656,2	K562	blood:
43	chr7:71336149..71336845-chr7:71534184..71534711,2	MCF-7	breast:
44	chr7:71586492..71588717-chr7:71593112..71596072,2	K562	blood:
45	chr15:82275396..82277038-chr7:71501737..71504586,2	MCF-7	breast:
46	chr7:71452826..71454470-chr7:71455028..71457199,2	MCF-7	breast:

No data

Variant related genes	Relation type
CALN1	TF binding region
ABCF2P2	TF binding region
CALN1	CpG island
ABCF2P2	CpG island
ENSG00000204580	chromatin interactions
ENSG00000207190	chromatin interactions
ENSG00000183166	chromatin interactions

Extended variants
information (count: 17302 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:17302 , 50 per page) page: 1 2 3 4 5 6 7 ... 347

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569233673	chr7:71422563-71422564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533297828	chr7:71422568-71422569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566337978	chr7:71422613-71422614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6957010	chr7:71422650-71422651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs34305878	chr7:71422720-71422721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528465609	chr7:71422742-71422743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147633670	chr7:71422769-71422770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553162999	chr7:71422815-71422816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568405075	chr7:71422861-71422862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535744889	chr7:71422878-71422879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374964104	chr7:71422940-71422941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386714573	chr7:71422948-71422949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568475964	chr7:71423050-71423051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562615858	chr7:71423051-71423052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71092939	chr7:71423067-71423068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56355838	chr7:71423068-71423069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199738931	chr7:71423069-71423070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556710278	chr7:71423084-71423085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145031785	chr7:71423100-71423101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575163079	chr7:71423147-71423148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545447571	chr7:71423179-71423180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557856281	chr7:71423188-71423189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35665757	chr7:71423238-71423239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7795661	chr7:71423265-71423266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570166422	chr7:71423272-71423273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183973536	chr7:71423280-71423281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529591781	chr7:71423282-71423283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553783637	chr7:71423301-71423302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544872401	chr7:71423344-71423345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566816585	chr7:71423367-71423368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60738488	chr7:71423381-71423382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35077840	chr7:71423399-71423400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373301686	chr7:71423410-71423411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537127219	chr7:71423411-71423412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186780484	chr7:71423422-71423423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546862376	chr7:71423424-71423425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568238960	chr7:71423441-71423442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535471281	chr7:71423449-71423450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112437252	chr7:71423460-71423461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550868726	chr7:71423462-71423463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377499049	chr7:71423470-71423471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539422368	chr7:71423506-71423507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117156488	chr7:71423531-71423532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13235785	chr7:71423557-71423558	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs60038723	chr7:71423562-71423563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558347492	chr7:71423565-71423566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190675127	chr7:71423570-71423571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546932205	chr7:71423600-71423601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544449510	chr7:71423619-71423620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114592343	chr7:71423653-71423654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	21990379	CNVD
Williams Syndrome	16773131	CNVD
Breast cancer	16417655	CNVD
Rheumatoid arthritis	21728841	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Williams Syndrome	16617304	CNVD
Williams Syndrome	20206275	CNVD
Williams Syndrome	16199537	CNVD
Williams Syndrome	18923514	CNVD
Williams Syndrome	20970697	CNVD
Williams-beuren syndrome	20926892	CNVD
Williams-beuren syndrome	21808859	CNVD
periventricular nodular heterotopia	20648244	CNVD
Williams Syndrome	20425783	CNVD
Williams-beuren syndrome	22226172	CNVD
Williams-beuren syndrome	18923513	CNVD
Williams-beuren syndrome	17565757	CNVD
Williams-beuren syndrome	18787571	CNVD
Williams Syndrome	22241247	CNVD
Autism	21686962	CNVD
Autism	20970697	CNVD
Epilepsy	22118685	CNVD
Epilepsy	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21686962	CNVD
Schizophrenia	22118685	CNVD
Williams-beuren syndrome	18337728	CNVD
language delay	21686962	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
Mental retardation	16773131	CNVD
Colorectal cancer	19455253	CNVD
Williams-beuren syndrome	16971481	CNVD
Idiopathic infantile hypercalcaemia	20466674	CNVD
Williams Syndrome	18308711	CNVD
Williams Syndrome	19255058	CNVD
Williams Syndrome	18924169	CNVD
Williams Syndrome	21939500	CNVD
Williams Syndrome	20425784	CNVD
Williams Syndrome	22241097	CNVD
Williams Syndrome	19176822	CNVD
Williams Syndrome	17505701	CNVD
Supravalvular aortic stenosis	19844261	CNVD
Williams Syndrome	16760918	CNVD
Williams-beuren syndrome	18452001	CNVD
Williams-beuren syndrome	19880526	CNVD
Autism	17666889	CNVD
speech delay	17666889	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:1605 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71400400-71424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71401200-71431000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71403400-71431000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:71408000-71430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71409400-71430800	Weak transcription	Fetal Thymus	thymus
6	chr7:71420400-71423400	Weak transcription	Thymus	Thymus
7	chr7:71423400-71424000	Strong transcription	Thymus	Thymus
8	chr7:71424000-71430800	Weak transcription	Thymus	Thymus
9	chr7:71427600-71427800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:71428000-71429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:71428800-71429000	Enhancers	Brain Hippocampus Middle	brain
12	chr7:71428800-71429600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:71429000-71429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:71429000-71429200	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr7:71429000-71429200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:71429000-71429200	Active TSS	Brain Substantia Nigra	brain
17	chr7:71429000-71429400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:71429000-71429400	Enhancers	Brain Angular Gyrus	brain
19	chr7:71429000-71429400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:71429000-71429400	Enhancers	Fetal Brain Female	brain
21	chr7:71429200-71429400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:71429200-71429400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:71429200-71429600	Active TSS	Brain Cingulate Gyrus	brain
24	chr7:71429200-71429600	Active TSS	Brain Hippocampus Middle	brain
25	chr7:71429200-71429600	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr7:71429200-71430000	Active TSS	Brain Anterior Caudate	brain
27	chr7:71429400-71429600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:71429400-71429800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr7:71429400-71433000	Weak transcription	Fetal Brain Female	brain
30	chr7:71429600-71429800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:71429600-71429800	Enhancers	Brain Substantia Nigra	brain
32	chr7:71429600-71430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:71429800-71430000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:71429800-71430000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:71430000-71430200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:71430000-71430400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:71430200-71430600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:71430800-71431600	Strong transcription	Thymus	Thymus
39	chr7:71430800-71431800	Strong transcription	Fetal Thymus	thymus
40	chr7:71430800-71432000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:71431000-71431600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:71431000-71432000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr7:71431600-71440600	Weak transcription	Thymus	Thymus
44	chr7:71431600-71445800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:71431800-71443400	Weak transcription	Fetal Thymus	thymus
46	chr7:71432000-71439400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:71432000-71446400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:71432600-71433400	Enhancers	Fetal Heart	heart
49	chr7:71433000-71433400	Enhancers	Fetal Brain Female	brain
50	chr7:71435800-71436000	Enhancers	Brain Germinal Matrix	brain

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