Variant report

Variant	nsv522922
Chromosome Location	chr1:103305021-103764640
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	chr1:103424463-103424755	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:103502292-103502351	K562	blood:	n/a	n/a
3	ATF2	chr1:103715934-103716328	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr1:103715902-103716238	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:103574145-103574516	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr1:103436155-103436294	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr1:103344992-103345640	HCT-116	colon:	n/a	n/a
8	CEBPB	chr1:103590790-103591121	IMR90	lung:	n/a	chr1:103590956-103590967
9	CEBPB	chr1:103636149-103636512	HepG2	liver:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339
10	CEBPB	chr1:103675564-103675850	IMR90	lung:	n/a	n/a
11	CEBPB	chr1:103636164-103636492	H1-hESC	embryonic stem cell:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339
12	CEBPB	chr1:103621055-103621263	HepG2	liver:	n/a	chr1:103621118-103621129
13	CEBPB	chr1:103604150-103604282	H1-hESC	embryonic stem cell:	n/a	chr1:103604247-103604260
14	CEBPB	chr1:103658472-103658659	K562	blood:	n/a	chr1:103658559-103658570 chr1:103658557-103658568 chr1:103658559-103658568
15	CEBPB	chr1:103457286-103457644	H1-hESC	embryonic stem cell:	n/a	chr1:103457464-103457475 chr1:103457465-103457476
16	CEBPB	chr1:103722036-103722370	IMR90	lung:	n/a	chr1:103722171-103722182
17	CEBPB	chr1:103590219-103590253	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr1:103636255-103636461	ECC-1	luminal epithelium:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339
19	CEBPB	chr1:103519688-103519996	A549	lung:	n/a	chr1:103519829-103519842 chr1:103519831-103519840 chr1:103519831-103519840 chr1:103519831-103519840
20	CEBPB	chr1:103749600-103749931	IMR90	lung:	n/a	chr1:103749753-103749766 chr1:103749755-103749766 chr1:103749753-103749766 chr1:103749753-103749764
21	CEBPB	chr1:103737030-103737460	IMR90	lung:	n/a	n/a
22	CEBPB	chr1:103385285-103385812	IMR90	lung:	n/a	chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707
23	CEBPB	chr1:103741497-103741714	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:103636177-103636529	Hela-S3	cervix:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339
25	CEBPB	chr1:103660413-103660527	A549	lung:	n/a	n/a
26	CEBPB	chr1:103590789-103591132	HepG2	liver:	n/a	chr1:103590956-103590967
27	CEBPB	chr1:103519664-103520007	IMR90	lung:	n/a	chr1:103519829-103519842 chr1:103519831-103519840 chr1:103519831-103519840 chr1:103519831-103519840
28	CEBPB	chr1:103519692-103519989	ECC-1	luminal epithelium:	n/a	chr1:103519829-103519842 chr1:103519831-103519840 chr1:103519831-103519840 chr1:103519831-103519840
29	CEBPB	chr1:103583686-103583999	HepG2	liver:	n/a	chr1:103583818-103583829
30	CEBPB	chr1:103424437-103424754	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:103468048-103468248	HepG2	liver:	n/a	chr1:103468160-103468173 chr1:103468074-103468085 chr1:103468076-103468085
32	CEBPB	chr1:103549640-103549851	HepG2	liver:	n/a	chr1:103549780-103549791
33	CEBPB	chr1:103695681-103695931	IMR90	lung:	n/a	n/a
34	CEBPB	chr1:103344973-103345668	HCT-116	colon:	n/a	n/a
35	CEBPB	chr1:103636156-103636509	ECC-1	luminal epithelium:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339
36	CEBPB	chr1:103590107-103590350	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:103680366-103680602	HepG2	liver:	n/a	chr1:103680448-103680459
38	CEBPB	chr1:103658478-103658663	HepG2	liver:	n/a	chr1:103658559-103658570 chr1:103658557-103658568 chr1:103658559-103658568
39	CEBPB	chr1:103385312-103385827	Hela-S3	cervix:	n/a	chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707
40	CEBPB	chr1:103344985-103345539	A549	lung:	n/a	n/a
41	CEBPB	chr1:103636154-103636505	K562	blood:	n/a	chr1:103636327-103636340 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636329-103636338 chr1:103636378-103636391 chr1:103636328-103636339
42	CEBPB	chr1:103571936-103572289	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr1:103363066-103363488	A549	lung:	n/a	n/a
44	CEBPB	chr1:103588958-103589267	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:103463557-103463788	A549	lung:	n/a	chr1:103463691-103463704 chr1:103463691-103463702 chr1:103463691-103463702 chr1:103463712-103463725 chr1:103463691-103463704
46	CEBPB	chr1:103363004-103363495	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr1:103522115-103522329	IMR90	lung:	n/a	chr1:103522213-103522224
48	CEBPB	chr1:103420192-103420500	IMR90	lung:	n/a	chr1:103420350-103420361
49	CEBPB	chr1:103583672-103583994	IMR90	lung:	n/a	chr1:103583818-103583829
50	CEBPB	chr1:103590802-103591076	Hela-S3	cervix:	n/a	chr1:103590956-103590967

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:103573772-103573822	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:103573989-103574039	ovcar-3	ovarian:	n/a
3	chr1:103573700-103573750	HCPEpiC	choroid plexus:	n/a
4	chr1:103573772-103573822	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:103573989-103574039	ovcar-3	ovarian:	n/a
6	chr1:103573700-103573750	HCPEpiC	choroid plexus:	n/a
7	chr1:103319495-103319545	U87	brain:	n/a
8	chr1:103574532-103574582	BE2_C	brain:	n/a
9	chr1:103317515-103317565	AG04450	lung:	fetal
10	chr1:103574523-103574573	NB4	blood:	n/a
11	chr1:103572723-103572773	HEK293	kidney:	embryo
12	chr1:103574469-103574519	HL-60	blood:	n/a
13	chr1:103574619-103574669	NT2-D1	testis:	n/a
14	chr1:103573700-103573750	HCF	heart:	n/a
15	chr1:103573772-103573822	ovcar-3	ovarian:	n/a
16	chr1:103574097-103574147	SK-N-SH_RA	brain:	n/a
17	chr1:103319677-103319727	GM12891	blood:	n/a
18	chr1:103317515-103317565	HepG2	liver:	n/a
19	chr1:103574523-103574573	U87	brain:	n/a
20	chr1:103399388-103399438	HNPCEpiC	eye:	n/a
21	chr1:103399388-103399438	ovcar-3	ovarian:	n/a
22	chr1:103574532-103574582	HIPEpiC	eye:	n/a
23	chr1:103573700-103573750	BJ	skin:	n/a
24	chr1:103573989-103574039	U87	brain:	n/a
25	chr1:103574523-103574573	GM19239	blood:	n/a
26	chr1:103319495-103319545	SKMC	muscle:	n/a
27	chr1:103319495-103319545	AG09319	gingival:	n/a
28	chr1:103574469-103574519	K562	blood:	n/a
29	chr1:103573700-103573750	GM06990	blood:	n/a
30	chr1:103574072-103574122	BJ	skin:	n/a
31	chr1:103572615-103572665	ECC-1	luminal epithelium:	n/a
32	chr1:103574097-103574147	BJ	skin:	n/a
33	chr1:103574523-103574573	NHDF-neo	bronchial:	n/a
34	chr1:103343469-103343519	NT2-D1	testis:	n/a
35	chr1:103572723-103572773	U87	brain:	n/a
36	chr1:103574072-103574122	AG04449	skin:	fetal
37	chr1:103573772-103573822	LNCaP	prostate:	n/a
38	chr1:103574523-103574573	GM12891	blood:	n/a
39	chr1:103574958-103575008	AG09319	gingival:	n/a
40	chr1:103574958-103575008	HL-60	blood:	n/a
41	chr1:103343469-103343519	NB4	blood:	n/a
42	chr1:103574523-103574573	ProgFib	skin:	n/a
43	chr1:103573989-103574039	SAEC	small airway:	n/a
44	chr1:103572723-103572773	HCF	heart:	n/a
45	chr1:103574469-103574519	AG10803	skin:	n/a
46	chr1:103574469-103574519	HAEpiC	amniotic membrane:	n/a
47	chr1:103574532-103574582	SAEC	small airway:	n/a
48	chr1:103572723-103572773	T-47D	breast:	n/a
49	chr1:103343469-103343519	GM19239	blood:	n/a
50	chr1:103319677-103319727	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:103303886..103305574-chr1:103404633..103406434,2	MCF-7	breast:
2	chr1:103322613..103325550-chr1:103327919..103330236,2	MCF-7	breast:
3	chr1:103546900..103548973-chr1:103549511..103551130,2	K562	blood:
4	chr1:103259174..103259873-chr1:103435676..103436665,2	MCF-7	breast:
5	chr1:103426177..103428144-chr1:103433364..103435643,2	K562	blood:
6	chr1:103435891..103438484-chr1:103439465..103441994,2	K562	blood:
7	chr1:103016225..103017019-chr1:103436153..103436688,2	MCF-7	breast:
8	chr1:103435891..103438484-chr1:103439465..103441994,2	K562	blood:
9	chr1:103323089..103325462-chr8:4135925..4138695,2	MCF-7	breast:
10	chr1:103571876..103572435-chr1:104003675..104004308,2	MCF-7	breast:
11	chr1:103322613..103325550-chr1:103327919..103330236,2	MCF-7	breast:
12	chr1:103471408..103474127-chr1:103476869..103478860,2	MCF-7	breast:
13	chr1:103571462..103572103-chr1:104003560..104004261,2	MCF-7	breast:
14	chr1:103426177..103428144-chr1:103433364..103435643,2	K562	blood:
15	chr1:103303886..103305574-chr1:103404633..103406434,2	MCF-7	breast:
16	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:
17	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNPC3-7	chr1:103740315-103740675	NONHSAT004885
2	lnc-AMY1B-5	chr1:103470000-103470037	NONHSAT004880
3	lnc-COL11A1-2	chr1:103608369-103608574	NONHSAT004884
4	lnc-AMY1B-5	chr1:103468303-103468347	NONHSAT004880
5	lnc-AMY1B-5	chr1:103467984-103468037	NONHSAT004880
6	lnc-RNPC3-7	chr1:103730089-103730145	NONHSAT004885
7	lnc-AMY1B-4	chr1:103565699-103566260	NONHSAT004881
8	lnc-RNPC3-8	chr1:103600583-103600943	NONHSAT004882
9	lnc-AMY1B-5	chr1:103467481-103467525	NONHSAT004880
10	lnc-RNPC3-8	chr1:103590357-103590413	NONHSAT004882
11	lnc-COL11A1-2	chr1:103604765-103604851	NONHSAT004884
12	lnc-COL11A1-2	chr1:103594232-103594293	NONHSAT004884
13	lnc-AMY1B-5	chr1:103466993-103467187	NONHSAT004880

Variant related genes	Relation type
COL11A1	TF binding region
ENSG00000230864	TF binding region
SOD2P1	TF binding region
COL11A1	CpG island
ENSG00000230864	CpG island
SOD2P1	CpG island
ENSG00000060718	chromatin interactions
NHLRC3	miRNA target sites
TMPO	miRNA target sites
MBD4	miRNA target sites
FOXO1	miRNA target sites

Extended variants
information (count: 17737 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:17737 , 50 per page) page: 1 2 3 4 5 6 7 ... 355

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1241202	chr1:103305021-103305022	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377272908	chr1:103305034-103305035	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114340771	chr1:103305083-103305084	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193030042	chr1:103305118-103305119	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547607893	chr1:103305173-103305174	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55843330	chr1:103305189-103305190	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566316420	chr1:103305199-103305200	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569090653	chr1:103305217-103305218	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533467052	chr1:103305229-103305230	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184978818	chr1:103305238-103305239	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569997590	chr1:103305246-103305247	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1241201	chr1:103305261-103305262	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548532315	chr1:103305272-103305273	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189360002	chr1:103305355-103305356	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180968991	chr1:103305356-103305357	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535614872	chr1:103305384-103305385	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370613545	chr1:103305427-103305428	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566755876	chr1:103305468-103305469	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139464341	chr1:103305482-103305483	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545816847	chr1:103305505-103305506	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557717368	chr1:103305643-103305644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74108020	chr1:103305644-103305645	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540770633	chr1:103305710-103305711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185247921	chr1:103305730-103305731	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561419003	chr1:103305749-103305750	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573405060	chr1:103305751-103305752	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541574481	chr1:103305787-103305788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77538324	chr1:103305791-103305792	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533674093	chr1:103305793-103305794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551814258	chr1:103305818-103305819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560776706	chr1:103305844-103305845	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533980203	chr1:103305850-103305851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530891935	chr1:103305875-103305876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190006272	chr1:103305891-103305892	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532808899	chr1:103305906-103305907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149594028	chr1:103305950-103305951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181264740	chr1:103305972-103305973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563825377	chr1:103305987-103305988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186296057	chr1:103305991-103305992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532794129	chr1:103305994-103305995	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565767469	chr1:103305995-103305996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113329715	chr1:103306031-103306032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528803960	chr1:103306043-103306044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142181800	chr1:103306144-103306145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536604399	chr1:103306148-103306149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577135580	chr1:103306152-103306153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554952780	chr1:103306198-103306199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537965178	chr1:103306208-103306209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556223873	chr1:103306293-103306294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540815436	chr1:103306330-103306331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1578 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103302200-103305600	Enhancers	Placenta	Placenta
2	chr1:103304600-103306000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:103304600-103308000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:103305600-103306000	Weak transcription	Placenta	Placenta
5	chr1:103306000-103306200	Enhancers	Placenta	Placenta
6	chr1:103306000-103306400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:103306200-103307200	Weak transcription	Placenta	Placenta
8	chr1:103306400-103306600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:103307200-103308800	Enhancers	Placenta	Placenta
10	chr1:103308200-103308600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:103308600-103310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:103310800-103311200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:103311200-103319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:103316400-103316800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:103316400-103317400	Enhancers	Placenta	Placenta
16	chr1:103316400-103319400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:103316600-103317200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:103316600-103317200	Enhancers	NH-A	brain
19	chr1:103316600-103318400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:103316600-103319400	Enhancers	Fetal Muscle Leg	muscle
21	chr1:103317000-103317200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:103317000-103318400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:103317000-103318400	Enhancers	Osteobl	bone
24	chr1:103317000-103318600	Enhancers	HSMMtube	muscle
25	chr1:103317200-103318200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:103317200-103318200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:103317400-103317800	Weak transcription	Placenta	Placenta
28	chr1:103317400-103318800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:103317600-103317800	Enhancers	NHDF-Ad	bronchial
30	chr1:103317800-103318400	Enhancers	Placenta	Placenta
31	chr1:103317800-103319200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:103317800-103319400	Enhancers	Brain Germinal Matrix	brain
33	chr1:103317800-103321800	Weak transcription	NHDF-Ad	bronchial
34	chr1:103318000-103319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:103318000-103319200	Enhancers	Fetal Stomach	stomach
36	chr1:103318200-103318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:103318200-103318600	Enhancers	Adipose Nuclei	Adipose
38	chr1:103318200-103319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:103318200-103319200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:103318200-103320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:103318400-103318800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:103318400-103324000	Weak transcription	Osteobl	bone
43	chr1:103318400-103324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:103318800-103319000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:103319000-103319200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:103319000-103319400	Enhancers	Fetal Brain Male	brain
47	chr1:103319000-103319400	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:103319200-103320600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:103319400-103319800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:103320600-103320800	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links