Variant report

Variant	nsv525440
Chromosome Location	chr8:96254346-96276292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:96260945-96261297	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:96266427-96266458	K562	blood:	n/a	n/a
3	ARID3A	chr8:96260867-96261286	K562	blood:	n/a	chr8:96260887-96260903 chr8:96260886-96260902
4	ATF1	chr8:96263778-96264366	K562	blood:	n/a	n/a
5	ATF1	chr8:96271062-96271261	K562	blood:	n/a	n/a
6	ATF2	chr8:96260917-96261308	GM12878	blood:	n/a	n/a
7	ATF2	chr8:96260868-96261328	GM12878	blood:	n/a	n/a
8	BCLAF1	chr8:96260979-96261212	GM12878	blood:	n/a	n/a
9	BCLAF1	chr8:96260961-96261367	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:96263762-96263996	K562	blood:	n/a	n/a
11	BHLHE40	chr8:96261002-96261231	K562	blood:	n/a	n/a
12	CCNT2	chr8:96263765-96263950	K562	blood:	n/a	n/a
13	CEBPB	chr8:96272522-96272721	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:96263755-96264141	K562	blood:	n/a	n/a
15	CEBPB	chr8:96263736-96264176	K562	blood:	n/a	n/a
16	CEBPD	chr8:96263752-96264191	K562	blood:	n/a	n/a
17	CTCF	chr8:96261032-96261181	MCF-7	breast:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
18	CTCF	chr8:96260153-96260229	LNCaP	prostate:	n/a	n/a
19	CTCF	chr8:96261060-96261210	SAEC	small airway:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
20	CTCF	chr8:96261040-96261190	AoAF	blood vessel:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
21	CTCF	chr8:96261020-96261170	HRPEpiC	eye:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
22	CTCF	chr8:96261080-96261230	GM12873	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
23	CTCF	chr8:96261020-96261170	AG04449	skin:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
24	CTCF	chr8:96261080-96261230	GM12875	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
25	CTCF	chr8:96261040-96261190	NB4	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
26	CTCF	chr8:96261040-96261190	SAEC	small airway:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
27	CTCF	chr8:96261040-96261190	AG04450	lung:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
28	CTCF	chr8:96261120-96261270	HAc	cerebellar:	n/a	n/a
29	CTCF	chr8:96261020-96261170	GM12874	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
30	CTCF	chr8:96261040-96261190	GM12873	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
31	CTCF	chr8:96260960-96261257	HUVEC	blood vessel:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
32	CTCF	chr8:96260980-96261130	BE2_C	brain:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
33	CTCF	chr8:96261040-96261190	HPF	lung:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
34	CTCF	chr8:96261020-96261170	NHEK	skin:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
35	CTCF	chr8:96266380-96266530	HCFaa	heart:	n/a	n/a
36	CTCF	chr8:96261001-96261225	GM10266	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
37	CTCF	chr8:96260987-96261230	MCF-7	breast:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
38	CTCF	chr8:96261060-96261210	HVMF	connective:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
39	CTCF	chr8:96261020-96261170	HRE	kidney:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
40	CTCF	chr8:96261038-96261157	GM12892	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
41	CTCF	chr8:96261080-96261230	GM06990	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
42	CTCF	chr8:96261000-96261150	HVMF	connective:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
43	CTCF	chr8:96261120-96261270	A549	lung:	n/a	n/a
44	CTCF	chr8:96261040-96261190	RPTEC	kidney:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
45	CTCF	chr8:96261680-96261830	BE2_C	brain:	n/a	n/a
46	CTCF	chr8:96261280-96261430	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr8:96266340-96266490	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr8:96261060-96261210	GM12871	blood:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
49	CTCF	chr8:96260898-96261280	HCT-116	colon:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115
50	CTCF	chr8:96261040-96261190	Hela-S3	cervix:	n/a	chr8:96261103-96261113 chr8:96261101-96261117 chr8:96261095-96261116 chr8:96261100-96261118 chr8:96261102-96261115 chr8:96261106-96261115

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96258496-96258546	K562	blood:	n/a
2	chr8:96258496-96258546	ECC-1	luminal epithelium:	n/a
3	chr8:96258496-96258546	GM06990	blood:	n/a
4	chr8:96258496-96258546	HepG2	liver:	n/a
5	chr8:96258496-96258546	GM19239	blood:	n/a
6	chr8:96258496-96258546	NHDF-neo	bronchial:	n/a
7	chr8:96258496-96258546	NT2-D1	testis:	n/a
8	chr8:96258496-96258546	SK-N-SH_RA	brain:	n/a
9	chr8:96258496-96258546	HIPEpiC	eye:	n/a
10	chr8:96258496-96258546	NHBE	bronchial:	n/a
11	chr8:96258496-96258546	HMEC	breast:	n/a
12	chr8:96258496-96258546	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:96258496-96258546	BE2_C	brain:	n/a
14	chr8:96258496-96258546	SKMC	muscle:	n/a
15	chr8:96258496-96258546	HL-60	blood:	n/a
16	chr8:96258496-96258546	Caco-2	colon:	n/a
17	chr8:96258496-96258546	BJ	skin:	n/a
18	chr8:96258496-96258546	NB4	blood:	n/a
19	chr8:96258496-96258546	HCM	heart:	n/a
20	chr8:96258496-96258546	HRE	kidney:	n/a
21	chr8:96258496-96258546	MCF10A-Er-Src	breast:	n/a
22	chr8:96258496-96258546	PFSK-1	brain:	n/a
23	chr8:96258496-96258546	SAEC	small airway:	n/a
24	chr8:96258496-96258546	AG09309	skin:	n/a
25	chr8:96258496-96258546	HEK293	kidney:	embryo
26	chr8:96258496-96258546	HRPEpiC	eye:	n/a
27	chr8:96258496-96258546	H1-hESC	embryonic stem cell:	embryo
28	chr8:96258496-96258546	ProgFib	skin:	n/a
29	chr8:96258496-96258546	GM12878	blood:	n/a
30	chr8:96258496-96258546	RPTEC	kidney:	n/a
31	chr8:96258496-96258546	NH-A	brain:	n/a
32	chr8:96258496-96258546	HCF	heart:	n/a
33	chr8:96258496-96258546	AG09319	gingival:	n/a
34	chr8:96258496-96258546	SK-N-SH	brain:	n/a
35	chr8:96258496-96258546	HRCEpiC	kidney:	n/a
36	chr8:96258496-96258546	HUVEC	blood vessel:	n/a
37	chr8:96258496-96258546	T-47D	breast:	n/a
38	chr8:96258496-96258546	Hela-S3	cervix:	n/a
39	chr8:96258496-96258546	AG04449	skin:	fetal
40	chr8:96258496-96258546	SK-N-MC	brain:	n/a
41	chr8:96258496-96258546	ovcar-3	ovarian:	n/a
42	chr8:96258496-96258546	PrEC	prostate:	n/a
43	chr8:96258496-96258546	IMR90	lung:	fetal
44	chr8:96258496-96258546	HNPCEpiC	eye:	n/a
45	chr8:96258496-96258546	AoSMC	blood vessel:	n/a
46	chr8:96258496-96258546	HEEpiC	esophagus:	n/a
47	chr8:96258496-96258546	CMK	blood:	n/a
48	chr8:96258496-96258546	GM12892	blood:	n/a
49	chr8:96258496-96258546	U87	brain:	n/a
50	chr8:96258496-96258546	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96145784..96147714-chr8:96256412..96258560,3	MCF-7	breast:
2	chr12:23751457..23751957-chr8:96260931..96261523,3	MCF-7	breast:
3	chr8:96210702..96213000-chr8:96259520..96261197,2	MCF-7	breast:
4	chr8:96145046..96147483-chr8:96262186..96264321,3	MCF-7	breast:
5	chr8:96259384..96261070-chr8:96280673..96282664,2	MCF-7	breast:
6	chr8:96271978..96274186-chr8:96280108..96281656,2	MCF-7	breast:
7	chr8:96247598..96249978-chr8:96254089..96255776,2	K562	blood:
8	chr8:96123802..96126736-chr8:96258433..96260604,2	MCF-7	breast:
9	chr8:96265023..96267392-chr8:96279244..96281685,3	MCF-7	breast:
10	chr8:96036259..96038702-chr8:96260972..96263190,2	MCF-7	breast:
11	chr8:96267958..96270319-chr8:96278452..96280953,2	K562	blood:
12	chr8:96267529..96269819-chr8:96274003..96276020,2	MCF-7	breast:
13	chr8:96263544..96265203-chr8:96266424..96268396,2	MCF-7	breast:
14	chr8:96267529..96269819-chr8:96274003..96276020,2	MCF-7	breast:
15	chr8:96263544..96265203-chr8:96266424..96268396,2	MCF-7	breast:
16	chr8:96240789..96242805-chr8:96252372..96254385,3	K562	blood:
17	chr8:96145054..96147095-chr8:96263375..96266353,3	MCF-7	breast:
18	chr8:96264938..96266728-chr8:96285414..96287456,2	K562	blood:
19	chr8:96275452..96279040-chr8:96279400..96281500,3	MCF-7	breast:
20	chr8:96249665..96253673-chr8:96259430..96262765,4	K562	blood:
21	chr8:96256620..96258806-chr8:96280344..96282393,2	MCF-7	breast:
22	chr8:96268009..96270361-chr8:96279984..96282381,2	MCF-7	breast:
23	chr8:96069257..96069944-chr8:96260679..96261427,2	MCF-7	breast:
24	chr8:96241566..96243964-chr8:96265502..96267289,2	K562	blood:
25	chr8:96261077..96263105-chr8:96279082..96281612,2	K562	blood:
26	chr8:96166229..96168914-chr8:96267692..96269921,2	K562	blood:
27	chr8:96145890..96147663-chr8:96255297..96258154,2	K562	blood:
28	chr8:96260878..96262975-chr8:96277953..96279731,2	K562	blood:
29	chr8:96249492..96251130-chr8:96256592..96259030,2	K562	blood:
30	chr8:96261216..96262799-chr8:96264991..96267413,2	K562	blood:
31	chr8:96055071..96057640-chr8:96260633..96262435,2	MCF-7	breast:
32	chr8:96167676..96169648-chr8:96260449..96262617,2	MCF-7	breast:
33	chr8:96124960..96126763-chr8:96260721..96264387,3	MCF-7	breast:
34	chr8:96047716..96050435-chr8:96257562..96260562,3	MCF-7	breast:
35	chr8:96177802..96180258-chr8:96258516..96260057,2	K562	blood:
36	chr8:96262492..96264147-chr8:96281511..96283438,2	MCF-7	breast:
37	chr8:95960421..95962635-chr8:96259003..96261145,2	MCF-7	breast:
38	chr8:96248174..96249978-chr8:96253878..96256406,3	K562	blood:
39	chr8:96079167..96081297-chr8:96267070..96269403,2	MCF-7	breast:
40	chr10:89603716..89605237-chr8:96269842..96271477,2	MCF-7	breast:
41	chr8:96144307..96149700-chr8:96258787..96262664,8	MCF-7	breast:
42	chr8:96068887..96069501-chr8:96260956..96261535,2	K562	blood:
43	chr8:96144497..96146468-chr8:96258716..96261972,4	MCF-7	breast:
44	chr8:96102152..96104618-chr8:96259174..96260844,2	K562	blood:
45	chr8:95912286..95913059-chr8:96260714..96261265,2	MCF-7	breast:
46	chr8:96267545..96271748-chr8:96279577..96283221,5	MCF-7	breast:
47	chr8:96261216..96262799-chr8:96264991..96267413,2	K562	blood:
48	chr8:96264085..96267576-chr8:96268188..96270733,4	K562	blood:
49	chr8:96145775..96147564-chr8:96271079..96273144,2	K562	blood:
50	chr8:96266342..96268440-chr8:96282035..96284401,2	K562	blood:

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000253773	CpG island
ENSG00000253773	chromatin interactions
ENSG00000156172	chromatin interactions
ENSG00000175305	chromatin interactions
ENSG00000253878	chromatin interactions
ENSG00000175895	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000164938	chromatin interactions

Extended variants
information (count: 789 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13260234	chr8:96254346-96254347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375540939	chr8:96254369-96254370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556096965	chr8:96254401-96254402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576658945	chr8:96254458-96254459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79954868	chr8:96254459-96254460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560191871	chr8:96254509-96254510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151126873	chr8:96254551-96254552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542241496	chr8:96254580-96254581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562531114	chr8:96254581-96254582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78296343	chr8:96254605-96254606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76338784	chr8:96254607-96254608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138884415	chr8:96254637-96254638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146870874	chr8:96254641-96254642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552854896	chr8:96254645-96254646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548078866	chr8:96254652-96254653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567878717	chr8:96254757-96254758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536988877	chr8:96254787-96254788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539246556	chr8:96254811-96254812	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368517266	chr8:96254812-96254813	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541838915	chr8:96254841-96254842	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570082561	chr8:96254880-96254881	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538741389	chr8:96254890-96254891	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558635095	chr8:96254906-96254907	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562086760	chr8:96254907-96254908	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577370421	chr8:96254936-96254937	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533761284	chr8:96254944-96254945	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554000717	chr8:96255015-96255016	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117980431	chr8:96255066-96255067	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182249757	chr8:96255105-96255106	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73695431	chr8:96255111-96255112	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376654360	chr8:96255134-96255135	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148670162	chr8:96255227-96255228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545074000	chr8:96255251-96255252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564415322	chr8:96255267-96255268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533614040	chr8:96255279-96255280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547168982	chr8:96255303-96255304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143063916	chr8:96255304-96255305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73695432	chr8:96255310-96255311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547661778	chr8:96255319-96255320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370415683	chr8:96255321-96255322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561559813	chr8:96255322-96255323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62522655	chr8:96255331-96255332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558748077	chr8:96255373-96255374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550494904	chr8:96255397-96255398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs137928812	chr8:96255414-96255415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200753062	chr8:96255468-96255469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111701664	chr8:96255471-96255472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552226757	chr8:96255494-96255495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568073806	chr8:96255501-96255502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534819464	chr8:96255529-96255530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:96245200-96254600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
6	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
7	chr8:96248400-96262200	Weak transcription	HepG2	liver
8	chr8:96249000-96280800	Weak transcription	Gastric	stomach
9	chr8:96249600-96271400	Weak transcription	Aorta	Aorta
10	chr8:96250400-96261800	Weak transcription	Spleen	Spleen
11	chr8:96250600-96280400	Weak transcription	Left Ventricle	heart
12	chr8:96251000-96271000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:96251200-96280400	Weak transcription	Psoas Muscle	Psoas
14	chr8:96251400-96254400	Weak transcription	Fetal Lung	lung
15	chr8:96251400-96259800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:96251400-96260200	Weak transcription	Primary B cells from cord blood	blood
17	chr8:96251800-96258800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:96252200-96263400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:96253400-96280400	Weak transcription	Esophagus	oesophagus
20	chr8:96254400-96255400	Enhancers	Fetal Lung	lung
21	chr8:96254400-96261600	Weak transcription	Fetal Thymus	thymus
22	chr8:96254600-96254800	Enhancers	HSMMtube	muscle
23	chr8:96254600-96255200	Enhancers	Fetal Muscle Leg	muscle
24	chr8:96254800-96255200	Active TSS	Fetal Brain Male	brain
25	chr8:96254800-96259200	Weak transcription	HSMMtube	muscle
26	chr8:96255000-96263400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:96255200-96255400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:96255200-96268600	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:96255200-96280400	Weak transcription	Fetal Brain Male	brain
30	chr8:96255400-96258600	Weak transcription	Fetal Lung	lung
31	chr8:96256400-96263600	Weak transcription	Primary T cells from cord blood	blood
32	chr8:96256600-96258600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:96256800-96280400	Weak transcription	Lung	lung
34	chr8:96257000-96271400	Weak transcription	A549	lung
35	chr8:96257000-96280400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:96257400-96271000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:96257400-96271400	Weak transcription	Ovary	ovary
38	chr8:96257400-96280400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:96257600-96259200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:96257600-96263600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:96257800-96265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:96257800-96280400	Weak transcription	Fetal Kidney	kidney
43	chr8:96258000-96270800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:96258000-96280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:96258200-96280400	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:96258400-96260800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:96258400-96280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:96258600-96260000	Strong transcription	Fetal Lung	lung
49	chr8:96258600-96260400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:96258800-96259800	Genic enhancers	Primary B cells from peripheral blood	blood

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