Variant report

Variant	nsv534851
Chromosome Location	chr1:9462254-9517118
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	chr1:9498396-9499131	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:9494937-9496727	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:9515947-9516130	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:9499564-9500143	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:9488765-9489322	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:9466420-9466422	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:9504537-9504928	K562	blood:	n/a	n/a
8	ATF1	chr1:9504588-9504986	K562	blood:	n/a	n/a
9	ATF1	chr1:9488505-9489573	K562	blood:	n/a	chr1:9489039-9489053
10	ATF2	chr1:9485772-9486858	GM12878	blood:	n/a	n/a
11	ATF2	chr1:9488787-9489407	GM12878	blood:	n/a	chr1:9489014-9489025 chr1:9489039-9489053
12	ATF2	chr1:9488729-9489488	H1-hESC	embryonic stem cell:	n/a	chr1:9489014-9489025 chr1:9489039-9489053
13	ATF2	chr1:9470775-9471477	GM12878	blood:	n/a	n/a
14	ATF2	chr1:9472920-9474054	GM12878	blood:	n/a	n/a
15	ATF2	chr1:9473432-9474030	GM12878	blood:	n/a	n/a
16	ATF2	chr1:9485960-9486803	GM12878	blood:	n/a	n/a
17	ATF2	chr1:9488800-9489285	H1-hESC	embryonic stem cell:	n/a	chr1:9489014-9489025 chr1:9489039-9489053
18	ATF2	chr1:9488685-9489455	GM12878	blood:	n/a	chr1:9489014-9489025 chr1:9489039-9489053
19	ATF2	chr1:9470846-9471477	GM12878	blood:	n/a	n/a
20	ATF2	chr1:9473084-9473405	GM12878	blood:	n/a	n/a
21	ATF3	chr1:9488802-9489361	K562	blood:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
22	ATF3	chr1:9488734-9489319	H1-hESC	embryonic stem cell:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
23	ATF3	chr1:9488652-9489554	HepG2	liver:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
24	ATF3	chr1:9488882-9489254	GM12878	blood:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
25	ATF3	chr1:9488862-9489261	HepG2	liver:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
26	ATF3	chr1:9488732-9489308	H1-hESC	embryonic stem cell:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
27	ATF3	chr1:9488717-9489459	GM12878	blood:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
28	ATF3	chr1:9488823-9489317	K562	blood:	n/a	chr1:9489031-9489051 chr1:9489014-9489025 chr1:9489016-9489024 chr1:9489043-9489051 chr1:9489039-9489054 chr1:9489041-9489054 chr1:9489042-9489050 chr1:9489043-9489050 chr1:9489015-9489035 chr1:9489127-9489136 chr1:9489042-9489062 chr1:9489013-9489024 chr1:9489041-9489052 chr1:9489014-9489025 chr1:9489043-9489053
29	ATF3	chr1:9471031-9471385	K562	blood:	n/a	n/a
30	BACH1	chr1:9488732-9489135	K562	blood:	n/a	n/a
31	BATF	chr1:9473167-9473479	GM12878	blood:	n/a	n/a
32	BATF	chr1:9473083-9474008	GM12878	blood:	n/a	n/a
33	BATF	chr1:9485901-9486698	GM12878	blood:	n/a	n/a
34	BATF	chr1:9486213-9486633	GM12878	blood:	n/a	n/a
35	BATF	chr1:9470812-9471387	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:9473126-9474070	GM12878	blood:	n/a	chr1:9473384-9473393 chr1:9473169-9473182
37	BCL11A	chr1:9470791-9471402	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:9473645-9474022	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:9486286-9486712	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:9473125-9473495	GM12878	blood:	n/a	chr1:9473384-9473393 chr1:9473169-9473182
41	BCL11A	chr1:9485922-9486774	GM12878	blood:	n/a	n/a
42	BCL3	chr1:9513429-9513876	GM12878	blood:	n/a	n/a
43	BCL3	chr1:9476668-9477325	GM12878	blood:	n/a	n/a
44	BCL3	chr1:9504580-9504947	GM12878	blood:	n/a	n/a
45	BCL3	chr1:9513269-9513914	GM12878	blood:	n/a	n/a
46	BCL3	chr1:9504649-9504996	GM12878	blood:	n/a	n/a
47	BCL3	chr1:9514620-9514959	GM12878	blood:	n/a	n/a
48	BCL3	chr1:9473020-9474027	GM12878	blood:	n/a	chr1:9473384-9473393 chr1:9473169-9473182
49	BCLAF1	chr1:9485894-9486863	GM12878	blood:	n/a	n/a
50	BCLAF1	chr1:9473022-9474057	GM12878	blood:	n/a	chr1:9473384-9473393 chr1:9473169-9473182

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9488706-9488756	AG09319	gingival:	n/a
2	chr1:9488706-9488756	AG09319	gingival:	n/a
3	chr1:9491741-9491791	HRCEpiC	kidney:	n/a
4	chr1:9513980-9514030	HRPEpiC	eye:	n/a
5	chr1:9488897-9488947	CMK	blood:	n/a
6	chr1:9486939-9486989	K562	blood:	n/a
7	chr1:9466328-9466378	HRPEpiC	eye:	n/a
8	chr1:9477578-9477628	SKMC	muscle:	n/a
9	chr1:9491741-9491791	HMEC	breast:	n/a
10	chr1:9488706-9488756	HRCEpiC	kidney:	n/a
11	chr1:9473751-9473801	AG04449	skin:	fetal
12	chr1:9489248-9489298	AG10803	skin:	n/a
13	chr1:9486939-9486989	AG04450	lung:	fetal
14	chr1:9486780-9486830	Hela-S3	cervix:	n/a
15	chr1:9489130-9489180	AG04449	skin:	fetal
16	chr1:9488961-9489011	HepG2	liver:	n/a
17	chr1:9509421-9509471	NT2-D1	testis:	n/a
18	chr1:9488706-9488756	SK-N-SH_RA	brain:	n/a
19	chr1:9489130-9489180	H1-hESC	embryonic stem cell:	embryo
20	chr1:9515447-9515497	ECC-1	luminal epithelium:	n/a
21	chr1:9513980-9514030	SAEC	small airway:	n/a
22	chr1:9515447-9515497	AG04449	skin:	fetal
23	chr1:9488897-9488947	GM06990	blood:	n/a
24	chr1:9491741-9491791	Jurkat	blood:	n/a
25	chr1:9488961-9489011	AG04450	lung:	fetal
26	chr1:9488897-9488947	RPTEC	kidney:	n/a
27	chr1:9473751-9473801	HNPCEpiC	eye:	n/a
28	chr1:9477578-9477628	CMK	blood:	n/a
29	chr1:9498583-9498633	RPTEC	kidney:	n/a
30	chr1:9513980-9514030	ovcar-3	ovarian:	n/a
31	chr1:9488961-9489011	HEK293	kidney:	embryo
32	chr1:9498583-9498633	H1-hESC	embryonic stem cell:	embryo
33	chr1:9470966-9471016	PANC-1	pancreas:	n/a
34	chr1:9504429-9504479	PANC-1	pancreas:	n/a
35	chr1:9470966-9471016	Jurkat	blood:	n/a
36	chr1:9488961-9489011	U87	brain:	n/a
37	chr1:9513980-9514030	IMR90	lung:	fetal
38	chr1:9498583-9498633	BE2_C	brain:	n/a
39	chr1:9498583-9498633	PrEC	prostate:	n/a
40	chr1:9489248-9489298	HIPEpiC	eye:	n/a
41	chr1:9504429-9504479	AG04449	skin:	fetal
42	chr1:9488961-9489011	H1-hESC	embryonic stem cell:	embryo
43	chr1:9477578-9477628	HCPEpiC	choroid plexus:	n/a
44	chr1:9489248-9489298	CMK	blood:	n/a
45	chr1:9488706-9488756	GM12891	blood:	n/a
46	chr1:9477578-9477628	SK-N-SH_RA	brain:	n/a
47	chr1:9486939-9486989	BJ	skin:	n/a
48	chr1:9466328-9466378	SK-N-SH_RA	brain:	n/a
49	chr1:9504429-9504479	AG04450	lung:	fetal
50	chr1:9486939-9486989	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9481223..9482899-chr1:9486967..9488787,2	MCF-7	breast:
2	chr1:9488986..9490764-chr1:9512674..9514282,2	K562	blood:
3	chr1:9352550..9354659-chr1:9512718..9515451,2	MCF-7	breast:
4	chr1:9488345..9489032-chr1:9515535..9516441,2	MCF-7	breast:
5	chr1:9326463..9328947-chr1:9460978..9462511,2	K562	blood:
6	chr1:9499359..9501959-chr1:9509366..9512110,2	MCF-7	breast:
7	chr1:9354961..9356924-chr1:9488151..9490744,2	MCF-7	breast:
8	chr1:9508989..9511412-chr1:9512943..9514562,2	K562	blood:
9	chr1:9490107..9492775-chr1:9501862..9503364,2	K562	blood:
10	chr1:9488702..9489321-chr1:9508153..9508925,2	MCF-7	breast:
11	chr1:9485508..9487199-chr1:9512104..9513874,2	MCF-7	breast:
12	chr1:9486092..9492085-chr1:9494881..9499267,6	MCF-7	breast:
13	chr1:9352035..9354853-chr1:9507842..9509931,2	MCF-7	breast:
14	chr1:9488784..9489396-chr1:24285096..24285626,2	Hela-S3	cervix:
15	chr1:9493315..9494902-chr1:9496470..9498853,2	K562	blood:
16	chr1:9466076..9467786-chr1:9482073..9484647,2	MCF-7	breast:
17	chr1:9351639..9354409-chr1:9515006..9516561,2	MCF-7	breast:
18	chr1:9471245..9471745-chr4:7390618..7391126,2	K562	blood:
19	chr1:9489244..9491922-chr1:9498466..9501329,2	K562	blood:
20	chr1:9351244..9353972-chr1:9515955..9518438,2	K562	blood:
21	chr1:9498048..9500136-chr1:9501100..9505210,4	K562	blood:
22	chr1:9488345..9489032-chr1:9515535..9516441,2	MCF-7	breast:
23	chr1:9509075..9510677-chr1:9515840..9518689,2	K562	blood:
24	chr1:9501654..9503304-chr1:9535794..9537313,2	MCF-7	breast:
25	chr1:9490304..9492570-chr1:9505163..9507872,2	MCF-7	breast:
26	chr1:9490107..9492775-chr1:9501862..9503364,2	K562	blood:
27	chr1:9350551..9356723-chr1:9507068..9514474,14	MCF-7	breast:
28	chr1:9327007..9327925-chr1:9515435..9516474,10	K562	blood:
29	chr1:9352813..9355064-chr1:9461860..9463608,2	MCF-7	breast:
30	chr1:9351703..9354456-chr1:9486452..9488784,2	MCF-7	breast:
31	chr1:9240772..9242777-chr1:9514461..9516821,2	MCF-7	breast:
32	chr1:9501288..9504164-chr1:9513171..9514962,2	K562	blood:
33	chr1:9498048..9500136-chr1:9501100..9505210,4	K562	blood:
34	chr1:9481666..9484437-chr1:9485334..9488976,3	K562	blood:
35	chr1:9291949..9294645-chr1:9498924..9501771,2	MCF-7	breast:
36	chr1:9317766..9320395-chr1:9506510..9508054,2	K562	blood:
37	chr1:9472080..9474514-chr1:9487790..9490204,2	MCF-7	breast:
38	chr1:9501288..9504164-chr1:9513171..9514962,2	K562	blood:
39	chr1:9488099..9491922-chr1:9497958..9501329,3	K562	blood:
40	chr1:9483047..9485886-chr1:9486255..9490266,4	MCF-7	breast:
41	chr1:9366316..9367985-chr1:9487224..9488990,2	MCF-7	breast:
42	chr1:9485508..9487199-chr1:9512104..9513874,2	MCF-7	breast:
43	chr1:9488702..9489321-chr1:9508153..9508925,2	MCF-7	breast:
44	chr1:9488099..9491922-chr1:9497958..9501329,3	K562	blood:
45	chr1:9514038..9515872-chr17:57919878..57922238,2	MCF-7	breast:
46	chr1:9466076..9467786-chr1:9482073..9484647,2	MCF-7	breast:
47	chr1:9515559..9516391-chr1:9551186..9551706,2	MCF-7	breast:
48	chr1:9481666..9484437-chr1:9485334..9488976,3	K562	blood:
49	chr1:9357487..9360236-chr1:9500562..9503352,2	MCF-7	breast:
50	chr1:9481666..9484437-chr1:9486745..9488976,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf200-3	chr1:9509253-9509473	XLOC_000698
2	lnc-C1orf200-4	chr1:9485153-9487440	NR_104623
3	lnc-C1orf200-3	chr1:9510125-9510309	XLOC_000698
4	lnc-C1orf200-4	chr1:9488981-9489003	XLOC_000697
5	lnc-C1orf200-4	chr1:9485153-9487440	NR_104622
6	lnc-C1orf200-4	chr1:9486352-9487440	XLOC_000697
7	lnc-C1orf200-4	chr1:9488981-9489055	NR_104622
8	lnc-C1orf200-4	chr1:9485723-9487071	XLOC_000697
9	lnc-C1orf200-4	chr1:9488901-9488975	NR_104623
10	lnc-C1orf200-3	chr1:9514893-9514916	XLOC_000698
11	lnc-C1orf200-4	chr1:9485867-9486020	l_23_chr1:9483369-9486127_liver
12	lnc-C1orf200-4	chr1:9486041-9486141	l_23_chr1:9483369-9486127_liver
13	lnc-C1orf200-4	chr1:9483738-9484194	NONHSAT000805
14	lnc-C1orf200-4	chr1:9483370-9484194	l_23_chr1:9483369-9486127_liver
15	lnc-SPSB1-1	chr1:9512343-9512410	NONHSAT000809
16	lnc-SPSB1-1	chr1:9512522-9512877	NONHSAT000809
17	lnc-C1orf200-4	chr1:9474622-9474645	XLOC_000697
18	lnc-C1orf200-4	chr1:9485867-9486117	NONHSAT000805

Variant related genes	Relation type
RNA5SP40	TF binding region
RNA5SP40	CpG island
ENSG00000189266	chromatin interactions
ENSG00000188822	chromatin interactions
ENSG00000252956	chromatin interactions
ENSG00000234546	chromatin interactions
ENSG00000049239	chromatin interactions
ENSG00000152487	chromatin interactions
ENSG00000165997	chromatin interactions
ENSG00000171621	chromatin interactions
ERBB2IP	miRNA target sites
EPT1	miRNA target sites

Extended variants
information (count: 2247 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:2247 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549802493	chr1:9462280-9462281	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs180855959	chr1:9462287-9462288	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138494099	chr1:9462328-9462329	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532803593	chr1:9462371-9462372	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77498353	chr1:9462410-9462411	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567606125	chr1:9462425-9462426	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74051657	chr1:9462449-9462450	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185262664	chr1:9462462-9462463	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569177561	chr1:9462519-9462520	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371466308	chr1:9462521-9462522	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539783743	chr1:9462598-9462599	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557978086	chr1:9462634-9462635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147334365	chr1:9462707-9462708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534167079	chr1:9462709-9462710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551313312	chr1:9462768-9462769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555528867	chr1:9462770-9462771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574024364	chr1:9462800-9462801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7528785	chr1:9462812-9462813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117439258	chr1:9462829-9462830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189648343	chr1:9462856-9462857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569795551	chr1:9462877-9462878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569819476	chr1:9462887-9462888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs59575326	chr1:9462894-9462895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35381833	chr1:9462895-9462896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530564075	chr1:9462956-9462957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560335714	chr1:9462960-9462961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548657327	chr1:9462962-9462963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181968301	chr1:9462967-9462968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549232197	chr1:9462980-9462981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561041600	chr1:9463117-9463118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187260678	chr1:9463118-9463119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549821476	chr1:9463153-9463154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571476312	chr1:9463165-9463166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72862782	chr1:9463167-9463168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567156823	chr1:9463196-9463197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7414873	chr1:9463254-9463255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191645842	chr1:9463276-9463277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534010235	chr1:9463313-9463314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113544681	chr1:9463420-9463421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529200112	chr1:9463423-9463424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111829548	chr1:9463424-9463425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536933981	chr1:9463446-9463447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111849918	chr1:9463449-9463450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556584024	chr1:9463459-9463460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187983341	chr1:9463470-9463471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7414830	chr1:9463492-9463493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149256739	chr1:9463501-9463502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572198524	chr1:9463515-9463516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542765597	chr1:9463543-9463544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560930142	chr1:9463637-9463638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17621639	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164919	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:2080 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9457000-9462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:9457000-9463400	Enhancers	HUVEC	blood vessel
3	chr1:9457600-9463400	Enhancers	Thymus	Thymus
4	chr1:9457600-9468000	Enhancers	Fetal Thymus	thymus
5	chr1:9457800-9462400	Enhancers	HSMMtube	muscle
6	chr1:9457800-9462600	Enhancers	Brain Anterior Caudate	brain
7	chr1:9457800-9462600	Enhancers	Brain Hippocampus Middle	brain
8	chr1:9457800-9463200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:9458600-9462400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:9458600-9464200	Weak transcription	Esophagus	oesophagus
11	chr1:9458800-9463200	Enhancers	Dnd41	blood
12	chr1:9459200-9463200	Enhancers	Right Ventricle	heart
13	chr1:9459400-9462400	Flanking Active TSS	HepG2	liver
14	chr1:9459400-9463200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:9459400-9463200	Enhancers	Fetal Heart	heart
16	chr1:9459400-9463200	Enhancers	NH-A	brain
17	chr1:9459600-9462400	Enhancers	Adipose Nuclei	Adipose
18	chr1:9459600-9462600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:9459600-9462600	Enhancers	Ovary	ovary
20	chr1:9459600-9462600	Enhancers	A549	lung
21	chr1:9459600-9462600	Enhancers	NHLF	lung
22	chr1:9459600-9463200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:9459600-9463200	Enhancers	Right Atrium	heart
24	chr1:9459800-9462600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:9459800-9463200	Enhancers	Left Ventricle	heart
26	chr1:9459800-9464600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:9460200-9462600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:9460200-9462600	Enhancers	Osteobl	bone
29	chr1:9460400-9462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:9460600-9462600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:9460800-9462600	Enhancers	HSMM	muscle
32	chr1:9460800-9462800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:9460800-9465400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:9460800-9471000	Weak transcription	Fetal Lung	lung
35	chr1:9460800-9473000	Weak transcription	Aorta	Aorta
36	chr1:9461000-9473000	Weak transcription	Psoas Muscle	Psoas
37	chr1:9461200-9462600	Enhancers	Placenta	Placenta
38	chr1:9461200-9464200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:9461200-9464800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:9461200-9465400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:9461200-9466000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:9461200-9466200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:9461200-9466400	Weak transcription	Primary B cells from cord blood	blood
44	chr1:9461200-9471000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:9461400-9462400	Enhancers	Fetal Muscle Trunk	muscle
46	chr1:9461400-9462800	Weak transcription	Primary T cells from cord blood	blood
47	chr1:9461400-9463400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:9461400-9466000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:9461400-9466200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:9461400-9471000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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