Variant report

Variant	nsv428170
Chromosome Location	chr7:71783434-71917539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:564)
CpG islands
(count:1342)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:71909323-71909898	HepG2	liver:	n/a	n/a
2	ATF1	chr7:71870432-71870646	K562	blood:	n/a	n/a
3	ATF1	chr7:71876524-71876741	K562	blood:	n/a	n/a
4	ATF1	chr7:71891576-71891586	K562	blood:	n/a	n/a
5	ATF2	chr7:71870273-71870756	GM12878	blood:	n/a	n/a
6	ATF3	chr7:71870358-71870662	K562	blood:	n/a	n/a
7	BACH1	chr7:71885255-71885560	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:71799942-71799978	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:71801868-71802965	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:71800945-71801571	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:71894186-71894194	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr7:71870402-71870726	GM12878	blood:	n/a	chr7:71870568-71870579 chr7:71870569-71870579
13	BCL3	chr7:71912749-71913168	GM12878	blood:	n/a	n/a
14	BCL3	chr7:71877934-71878609	GM12878	blood:	n/a	n/a
15	BCL3	chr7:71878620-71878955	GM12878	blood:	n/a	n/a
16	BCL3	chr7:71870320-71870747	GM12878	blood:	n/a	chr7:71870567-71870576 chr7:71870568-71870577
17	BCL3	chr7:71878195-71878815	GM12878	blood:	n/a	n/a
18	BHLHE40	chr7:71878774-71878955	K562	blood:	n/a	n/a
19	BHLHE40	chr7:71876145-71876250	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:71823147-71823309	K562	blood:	n/a	n/a
21	BHLHE40	chr7:71910801-71910875	K562	blood:	n/a	n/a
22	BHLHE40	chr7:71887345-71887429	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:71870452-71870792	GM12878	blood:	n/a	n/a
24	BHLHE40	chr7:71870208-71870784	K562	blood:	n/a	n/a
25	BRCA1	chr7:71814539-71814706	H1-hESC	embryonic stem cell:	n/a	n/a
26	CBX3	chr7:71872035-71872377	K562	blood:	n/a	n/a
27	CEBPB	chr7:71899714-71899909	K562	blood:	n/a	n/a
28	CEBPB	chr7:71859718-71859750	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr7:71901891-71902170	HepG2	liver:	n/a	chr7:71902010-71902021
30	CEBPB	chr7:71901855-71902157	K562	blood:	n/a	chr7:71902010-71902021
31	CEBPB	chr7:71826938-71827321	K562	blood:	n/a	n/a
32	CEBPB	chr7:71868458-71868818	IMR90	lung:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
33	CEBPB	chr7:71826906-71827200	HepG2	liver:	n/a	n/a
34	CEBPB	chr7:71822855-71823202	K562	blood:	n/a	chr7:71823032-71823043
35	CEBPB	chr7:71822928-71823201	HepG2	liver:	n/a	chr7:71823032-71823043
36	CEBPB	chr7:71868496-71869031	H1-hESC	embryonic stem cell:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
37	CEBPB	chr7:71868465-71869067	K562	blood:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
38	CEBPB	chr7:71826949-71827134	A549	lung:	n/a	n/a
39	CEBPB	chr7:71868463-71868983	HepG2	liver:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
40	CEBPB	chr7:71868442-71868861	MCF-7	breast:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
41	CEBPB	chr7:71868455-71869071	A549	lung:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
42	CEBPB	chr7:71868503-71869087	Hela-S3	cervix:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
43	CEBPB	chr7:71901924-71902150	H1-hESC	embryonic stem cell:	n/a	chr7:71902010-71902021
44	CEBPB	chr7:71868467-71868959	K562	blood:	n/a	chr7:71868628-71868639 chr7:71868626-71868639 chr7:71868626-71868637 chr7:71868628-71868637
45	CEBPB	chr7:71828035-71828140	A549	lung:	n/a	n/a
46	CEBPB	chr7:71901925-71902125	A549	lung:	n/a	chr7:71902010-71902021
47	CEBPD	chr7:71876860-71877409	K562	blood:	n/a	n/a
48	CHD1	chr7:71800735-71800917	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr7:71801446-71801578	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr7:71802439-71802627	H1-hESC	embryonic stem cell:	n/a	chr7:71802464-71802474

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:71800412-71800462	HAEpiC	amniotic membrane:	n/a
2	chr7:71878121-71878171	U87	brain:	n/a
3	chr7:71912239-71912289	H1-hESC	embryonic stem cell:	embryo
4	chr7:71802574-71802624	ovcar-3	ovarian:	n/a
5	chr7:71913557-71913607	GM06990	blood:	n/a
6	chr7:71913592-71913642	HepG2	liver:	n/a
7	chr7:71800987-71801037	PFSK-1	brain:	n/a
8	chr7:71877520-71877570	HL-60	blood:	n/a
9	chr7:71799177-71799227	HAEpiC	amniotic membrane:	n/a
10	chr7:71799220-71799270	NHBE	bronchial:	n/a
11	chr7:71877520-71877570	HNPCEpiC	eye:	n/a
12	chr7:71802184-71802234	AG09319	gingival:	n/a
13	chr7:71800412-71800462	A549	lung:	n/a
14	chr7:71806067-71806117	HUVEC	blood vessel:	n/a
15	chr7:71877237-71877287	ECC-1	luminal epithelium:	n/a
16	chr7:71801793-71801843	HRCEpiC	kidney:	n/a
17	chr7:71913592-71913642	GM12892	blood:	n/a
18	chr7:71800987-71801037	LNCaP	prostate:	n/a
19	chr7:71913557-71913607	AG04450	lung:	fetal
20	chr7:71803123-71803173	SK-N-SH	brain:	n/a
21	chr7:71913557-71913607	ECC-1	luminal epithelium:	n/a
22	chr7:71801535-71801585	SK-N-SH_RA	brain:	n/a
23	chr7:71806067-71806117	MCF-7	breast:	n/a
24	chr7:71800412-71800462	HNPCEpiC	eye:	n/a
25	chr7:71798428-71798478	BE2_C	brain:	n/a
26	chr7:71799982-71800032	HIPEpiC	eye:	n/a
27	chr7:71878121-71878171	HCF	heart:	n/a
28	chr7:71877155-71877205	A549	lung:	n/a
29	chr7:71803433-71803483	ovcar-3	ovarian:	n/a
30	chr7:71806067-71806117	GM12878	blood:	n/a
31	chr7:71913592-71913642	PFSK-1	brain:	n/a
32	chr7:71913557-71913607	Caco-2	colon:	n/a
33	chr7:71911541-71911591	Hela-S3	cervix:	n/a
34	chr7:71803123-71803173	ProgFib	skin:	n/a
35	chr7:71912239-71912289	GM12891	blood:	n/a
36	chr7:71800987-71801037	AG04450	lung:	fetal
37	chr7:71911541-71911591	HCT-116	colon:	n/a
38	chr7:71913557-71913607	PrEC	prostate:	n/a
39	chr7:71800412-71800462	K562	blood:	n/a
40	chr7:71800412-71800462	SKMC	muscle:	n/a
41	chr7:71798428-71798478	AG09319	gingival:	n/a
42	chr7:71877520-71877570	BJ	skin:	n/a
43	chr7:71877113-71877163	HAEpiC	amniotic membrane:	n/a
44	chr7:71806067-71806117	HepG2	liver:	n/a
45	chr7:71877520-71877570	CMK	blood:	n/a
46	chr7:71913557-71913607	NHBE	bronchial:	n/a
47	chr7:71802184-71802234	K562	blood:	n/a
48	chr7:71878121-71878171	HEK293	kidney:	embryo
49	chr7:71803123-71803173	NT2-D1	testis:	n/a
50	chr7:71877155-71877205	MCF-7	breast:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:71876099..71879276-chr7:71880977..71883950,3	K562	blood:
2	chr7:71835115..71837488-chr7:71840184..71842880,2	K562	blood:
3	chr7:71789897..71791400-chr7:71794472..71797210,2	K562	blood:
4	chr7:71873765..71876173-chr7:71877212..71879799,2	K562	blood:
5	chr3:149645275..149646111-chr7:71851509..71852107,2	MCF-7	breast:
6	chr7:71743468..71744150-chr7:71798805..71799347,2	MCF-7	breast:
7	chr7:71390493..71391255-chr7:71799190..71800147,2	MCF-7	breast:
8	chr7:71903565..71905477-chr7:71913399..71915319,2	K562	blood:
9	chr7:71789897..71791400-chr7:71794472..71797210,2	K562	blood:
10	chr7:71810202..71812135-chr7:71814451..71816672,2	K562	blood:
11	chr7:71806092..71808807-chr7:71850228..71852499,2	K562	blood:
12	chr7:71857064..71858979-chr7:71870534..71872385,2	K562	blood:
13	chr7:71804343..71806702-chr7:71808239..71810092,2	K562	blood:
14	chr7:71838948..71841718-chr7:71841980..71845073,3	K562	blood:
15	chr7:71851405..71854103-chr7:71858001..71860587,2	MCF-7	breast:
16	chr7:71800589..71802149-chr7:71805434..71807505,2	K562	blood:
17	chr7:71810202..71812135-chr7:71814451..71816672,2	K562	blood:
18	chr7:71851405..71854103-chr7:71858001..71860587,2	MCF-7	breast:
19	chr7:71838948..71841718-chr7:71841980..71845073,3	K562	blood:
20	chr7:71390296..71390850-chr7:71798734..71799708,2	K562	blood:
21	chr7:71835115..71837488-chr7:71840184..71842880,2	K562	blood:
22	chr7:71874673..71877645-chr7:71878281..71881217,3	K562	blood:
23	chr7:71806092..71808807-chr7:71850228..71852499,2	K562	blood:
24	chr7:71870447..71872769-chr7:71875580..71878575,3	K562	blood:
25	chr7:71857064..71858979-chr7:71870534..71872385,2	K562	blood:
26	chr7:71804343..71806702-chr7:71808239..71810092,2	K562	blood:
27	chr7:71903565..71905477-chr7:71913399..71915319,2	K562	blood:

No data

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

Extended variants
information (count: 4313 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:4313 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534399421	chr7:71783488-71783489	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568175096	chr7:71783554-71783555	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570063883	chr7:71783585-71783586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537166061	chr7:71783599-71783600	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546906426	chr7:71783611-71783612	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537078827	chr7:71783644-71783645	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34415066	chr7:71783646-71783647	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550033890	chr7:71783682-71783683	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71069057	chr7:71783689-71783690	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145937292	chr7:71783734-71783735	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557503507	chr7:71783743-71783744	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538948641	chr7:71783793-71783794	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553505613	chr7:71783812-71783813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201535567	chr7:71783824-71783825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201332993	chr7:71783825-71783826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112358047	chr7:71783826-71783827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373741557	chr7:71783828-71783829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367619311	chr7:71783829-71783830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568234530	chr7:71783849-71783850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113986834	chr7:71783862-71783863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116648148	chr7:71783869-71783870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575973335	chr7:71783919-71783920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543014596	chr7:71783952-71783953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564917087	chr7:71784022-71784023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547398390	chr7:71784046-71784047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577416901	chr7:71784063-71784064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540059919	chr7:71784070-71784071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541754116	chr7:71784082-71784083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559977468	chr7:71784104-71784105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530366199	chr7:71784133-71784134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548679247	chr7:71784139-71784140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563665867	chr7:71784156-71784157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531052196	chr7:71784181-71784182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552263332	chr7:71784185-71784186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570830282	chr7:71784197-71784198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538519691	chr7:71784199-71784200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200946747	chr7:71784209-71784210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191963726	chr7:71784228-71784229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78699572	chr7:71784239-71784240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536075105	chr7:71784256-71784257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377559656	chr7:71784257-71784258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554357577	chr7:71784300-71784301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553695241	chr7:71784338-71784339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114169257	chr7:71784339-71784340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573629564	chr7:71784347-71784348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537152276	chr7:71784355-71784356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558226559	chr7:71784405-71784406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576811824	chr7:71784413-71784414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541743726	chr7:71784500-71784501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375710758	chr7:71784504-71784505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	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
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71759600-71790200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71772200-71784400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:71780200-71787200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:71781600-71783600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71782200-71783600	Enhancers	Thymus	Thymus
6	chr7:71782200-71783800	Genic enhancers	Fetal Thymus	thymus
7	chr7:71783000-71784800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:71783600-71784200	Weak transcription	Thymus	Thymus
9	chr7:71783600-71784800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:71783800-71785800	Strong transcription	Fetal Thymus	thymus
11	chr7:71784200-71787200	Strong transcription	Thymus	Thymus
12	chr7:71784400-71784800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:71784800-71785400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr7:71784800-71785600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:71784800-71785600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71784800-71786400	Weak transcription	Fetal Brain Female	brain
17	chr7:71785400-71790200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:71785600-71789800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:71785600-71790000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:71785800-71786800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:71785800-71792600	Genic enhancers	Fetal Thymus	thymus
22	chr7:71786000-71786600	Enhancers	NHEK	skin
23	chr7:71786000-71787000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:71786600-71786800	Enhancers	Fetal Brain Female	brain
25	chr7:71786600-71791800	Weak transcription	NHEK	skin
26	chr7:71787000-71791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:71787200-71787400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:71787200-71787400	Genic enhancers	Thymus	Thymus
29	chr7:71787400-71787600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:71787400-71789000	Weak transcription	Thymus	Thymus
31	chr7:71789000-71789600	Enhancers	Thymus	Thymus
32	chr7:71789600-71790000	Weak transcription	Thymus	Thymus
33	chr7:71789800-71792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:71790000-71790200	Enhancers	Thymus	Thymus
35	chr7:71790000-71792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:71790200-71790800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:71790200-71790800	Enhancers	Dnd41	blood
38	chr7:71790200-71791000	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:71790200-71797600	Weak transcription	Thymus	Thymus
40	chr7:71790600-71792200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:71790800-71792200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:71790800-71798000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:71791000-71797800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:71791200-71792000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:71791200-71792200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:71791800-71792200	Enhancers	NHEK	skin
47	chr7:71792600-71795800	Strong transcription	Fetal Thymus	thymus
48	chr7:71792600-71797600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:71792600-71797600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:71795800-71796200	Genic enhancers	Fetal Thymus	thymus

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