Variant report

Variant	esv2422231
Chromosome Location	chr6:4100333-4233454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2202)
CpG islands
(count:1892)
Chromatin interactive
region (count:107)
LncRNA
region (count:64)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2202 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:4102628-4103506	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:4167449-4167540	K562	blood:	n/a	n/a
3	ARID3A	chr6:4108220-4108395	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:4164374-4164499	K562	blood:	n/a	n/a
5	ARID3A	chr6:4224938-4225081	K562	blood:	n/a	n/a
6	ARID3A	chr6:4130848-4131164	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:4156145-4156429	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:4134680-4135751	HepG2	liver:	n/a	chr6:4135064-4135080
9	ARID3A	chr6:4126217-4126467	K562	blood:	n/a	n/a
10	ARID3A	chr6:4126074-4126703	HepG2	liver:	n/a	n/a
11	ARID3A	chr6:4176920-4177554	K562	blood:	n/a	n/a
12	ATF1	chr6:4224931-4225083	K562	blood:	n/a	n/a
13	ATF1	chr6:4177033-4177588	K562	blood:	n/a	n/a
14	ATF1	chr6:4101017-4101137	K562	blood:	n/a	n/a
15	ATF1	chr6:4126271-4126487	K562	blood:	n/a	n/a
16	ATF1	chr6:4129046-4129256	K562	blood:	n/a	n/a
17	ATF1	chr6:4185689-4185937	K562	blood:	n/a	n/a
18	ATF2	chr6:4136212-4136649	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr6:4155985-4156413	K562	blood:	n/a	n/a
20	BACH1	chr6:4136052-4136850	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr6:4135164-4135738	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr6:4136526-4136755	K562	blood:	n/a	n/a
23	BACH1	chr6:4115121-4115144	K562	blood:	n/a	n/a
24	BACH1	chr6:4169554-4169901	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr6:4126204-4126478	GM12878	blood:	n/a	n/a
26	BATF	chr6:4156137-4156356	GM12878	blood:	n/a	chr6:4156228-4156239
27	BCLAF1	chr6:4156035-4156416	GM12878	blood:	n/a	n/a
28	BHLHE40	chr6:4159838-4159902	K562	blood:	n/a	n/a
29	BHLHE40	chr6:4139606-4139888	GM12878	blood:	n/a	n/a
30	BHLHE40	chr6:4136167-4136589	HepG2	liver:	n/a	n/a
31	BHLHE40	chr6:4136185-4136634	GM12878	blood:	n/a	n/a
32	BHLHE40	chr6:4210785-4211099	K562	blood:	n/a	n/a
33	BHLHE40	chr6:4136164-4136888	K562	blood:	n/a	n/a
34	BHLHE40	chr6:4156129-4156434	K562	blood:	n/a	n/a
35	BHLHE40	chr6:4102753-4103425	HepG2	liver:	n/a	n/a
36	BHLHE40	chr6:4135234-4135791	HepG2	liver:	n/a	n/a
37	BHLHE40	chr6:4135192-4135765	K562	blood:	n/a	n/a
38	BHLHE40	chr6:4134431-4135779	GM12878	blood:	n/a	n/a
39	BHLHE40	chr6:4178985-4179239	K562	blood:	n/a	n/a
40	BHLHE40	chr6:4134279-4134930	K562	blood:	n/a	n/a
41	BHLHE40	chr6:4164313-4164606	K562	blood:	n/a	n/a
42	BRCA1	chr6:4156143-4156588	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr6:4135339-4135514	GM12878	blood:	n/a	n/a
44	BRCA1	chr6:4135590-4135779	HepG2	liver:	n/a	n/a
45	BRCA1	chr6:4134788-4135758	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr6:4136325-4136776	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr6:4112568-4112945	K562	blood:	n/a	n/a
48	CBX3	chr6:4168009-4168429	HCT-116	colon:	n/a	n/a
49	CBX3	chr6:4136004-4136710	K562	blood:	n/a	n/a
50	CBX3	chr6:4168057-4168422	K562	blood:	n/a	n/a

(count:1892 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:4173586-4173636	GM19239	blood:	n/a
2	chr6:4173586-4173636	GM19239	blood:	n/a
3	chr6:4135757-4135807	PANC-1	pancreas:	n/a
4	chr6:4135609-4135659	AG04450	lung:	fetal
5	chr6:4191593-4191643	IMR90	lung:	fetal
6	chr6:4133029-4133079	SK-N-MC	brain:	n/a
7	chr6:4135889-4135939	GM12891	blood:	n/a
8	chr6:4221388-4221438	Hela-S3	cervix:	n/a
9	chr6:4189186-4189236	HCM	heart:	n/a
10	chr6:4134485-4134535	RPTEC	kidney:	n/a
11	chr6:4189186-4189236	RPTEC	kidney:	n/a
12	chr6:4130800-4130850	AG04450	lung:	fetal
13	chr6:4135762-4135812	ProgFib	skin:	n/a
14	chr6:4133029-4133079	HRCEpiC	kidney:	n/a
15	chr6:4129232-4129282	HRPEpiC	eye:	n/a
16	chr6:4135844-4135894	IMR90	lung:	fetal
17	chr6:4191593-4191643	HEK293	kidney:	embryo
18	chr6:4130800-4130850	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:4135877-4135927	GM06990	blood:	n/a
20	chr6:4135753-4135803	Hela-S3	cervix:	n/a
21	chr6:4191837-4191887	HIPEpiC	eye:	n/a
22	chr6:4135609-4135659	SK-N-SH_RA	brain:	n/a
23	chr6:4136040-4136090	SK-N-SH_RA	brain:	n/a
24	chr6:4189186-4189236	AG09319	gingival:	n/a
25	chr6:4135757-4135807	SAEC	small airway:	n/a
26	chr6:4129232-4129282	U87	brain:	n/a
27	chr6:4135844-4135894	SK-N-SH_RA	brain:	n/a
28	chr6:4135862-4135912	SKMC	muscle:	n/a
29	chr6:4135844-4135894	PrEC	prostate:	n/a
30	chr6:4191593-4191643	SK-N-SH_RA	brain:	n/a
31	chr6:4135609-4135659	ECC-1	luminal epithelium:	n/a
32	chr6:4136366-4136416	IMR90	lung:	fetal
33	chr6:4134485-4134535	HEEpiC	esophagus:	n/a
34	chr6:4133029-4133079	HCM	heart:	n/a
35	chr6:4133029-4133079	HMEC	breast:	n/a
36	chr6:4135837-4135887	HEK293	kidney:	embryo
37	chr6:4126689-4126739	Hela-S3	cervix:	n/a
38	chr6:4135889-4135939	GM12878	blood:	n/a
39	chr6:4135837-4135887	BE2_C	brain:	n/a
40	chr6:4129232-4129282	T-47D	breast:	n/a
41	chr6:4191837-4191887	HUVEC	blood vessel:	n/a
42	chr6:4133029-4133079	SK-N-SH	brain:	n/a
43	chr6:4136196-4136246	NT2-D1	testis:	n/a
44	chr6:4153258-4153308	RPTEC	kidney:	n/a
45	chr6:4130800-4130850	Jurkat	blood:	n/a
46	chr6:4140258-4140308	PFSK-1	brain:	n/a
47	chr6:4136196-4136246	PFSK-1	brain:	n/a
48	chr6:4189186-4189236	HCF	heart:	n/a
49	chr6:4191593-4191643	SKMC	muscle:	n/a
50	chr6:4191837-4191887	AG09319	gingival:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
2	chr6:4144945..4146973-chr6:4150573..4153224,2	K562	blood:
3	chr6:4144945..4146973-chr6:4150573..4153224,2	K562	blood:
4	chr6:4170820..4172896-chr6:4177996..4180681,2	K562	blood:
5	chr6:4136060..4136664-chr6:4156285..4156807,2	K562	blood:
6	chr6:4177627..4180970-chr6:4181778..4183674,3	K562	blood:
7	chr6:4034929..4037283-chr6:4138355..4141166,2	K562	blood:
8	chr6:4125770..4127713-chr6:4129299..4130980,2	MCF-7	breast:
9	chr6:4152767..4155166-chr6:4158496..4160784,2	K562	blood:
10	chr16:89626644..89627523-chr6:4112702..4113202,2	HCT-116	colon:
11	chr6:4061756..4065412-chr6:4126948..4130204,3	K562	blood:
12	chr6:4159425..4161721-chr6:4164815..4167243,2	K562	blood:
13	chr6:4055416..4056150-chr6:4210745..4211284,2	MCF-7	breast:
14	chr6:4124643..4126417-chr6:4135807..4137737,2	MCF-7	breast:
15	chr6:4113549..4115331-chr6:4170875..4173732,2	K562	blood:
16	chr6:4113549..4115331-chr6:4170875..4173732,2	K562	blood:
17	chr6:4177627..4180970-chr6:4181778..4183674,3	K562	blood:
18	chr6:4063923..4066758-chr6:4130890..4132765,2	K562	blood:
19	chr6:4113800..4118980-chr6:4133466..4136327,6	K562	blood:
20	chr6:4101330..4103271-chr6:4104931..4106737,2	K562	blood:
21	chr6:4135400..4136088-chr9:130213299..130213825,2	Hela-S3	cervix:
22	chr6:4134541..4138997-chr6:4139735..4142919,10	K562	blood:
23	chr6:4113998..4116630-chr6:4130932..4132448,2	K562	blood:
24	chr6:4136214..4139096-chr6:4164790..4166515,2	MCF-7	breast:
25	chr6:4055445..4056340-chr6:4155713..4156846,7	MCF-7	breast:
26	chr6:4136047..4137778-chr6:4144907..4147251,2	MCF-7	breast:
27	chr2:232328912..232329506-chr6:4130261..4130761,2	NB4	blood:
28	chr5:180672773..180673634-chr6:4135301..4135859,2	Hela-S3	cervix:
29	chr6:4050000..4052650-chr6:4123056..4125495,2	K562	blood:
30	chr6:4135413..4137967-chr6:4141927..4143993,2	MCF-7	breast:
31	chr6:4126089..4127852-chr6:4134080..4136039,2	MCF-7	breast:
32	chr6:4138005..4140157-chr6:4146281..4148014,2	K562	blood:
33	chr6:4134857..4137453-chr6:4152038..4154761,2	MCF-7	breast:
34	chr6:4138682..4141560-chr6:4152224..4154246,2	K562	blood:
35	chr11:288787..289365-chr6:4136018..4136659,2	NB4	blood:
36	chr6:4126407..4126951-chr6:4155837..4156533,2	MCF-7	breast:
37	chr6:4126380..4128676-chr6:4175535..4177983,2	K562	blood:
38	chr6:4115012..4117735-chr6:4133700..4137127,3	K562	blood:
39	chr6:4057382..4058933-chr6:4121513..4123123,2	K562	blood:
40	chr6:4073031..4076036-chr6:4129401..4132460,3	K562	blood:
41	chr6:4161437..4164070-chr6:4910948..4913144,2	K562	blood:
42	chr6:4136209..4138286-chr6:4151856..4154566,2	MCF-7	breast:
43	chr6:4114540..4117205-chr6:4127264..4128906,2	K562	blood:
44	chr6:4152767..4155166-chr6:4158496..4160784,2	K562	blood:
45	chr6:4153666..4155628-chr6:4157683..4159996,2	K562	blood:
46	chr6:4164447..4168248-chr6:4168446..4171415,3	K562	blood:
47	chr6:4111554..4114188-chr6:4116120..4118863,4	K562	blood:
48	chr6:4133729..4136828-chr6:4155883..4158586,4	K562	blood:
49	chr6:4112263..4113921-chr6:4124338..4126285,2	K562	blood:
50	chr6:4126407..4126951-chr6:4155837..4156533,2	MCF-7	breast:

(count:64 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-4	chr6:4122166-4122280	NONHSAT107319
2	lnc-C6orf201-2	chr6:4150024-4152862	NONHSAT107326
3	lnc-C6orf201-2	chr6:4148740-4148928	NONHSAT107327
4	lnc-C6orf201-9	chr6:4177102-4177245	NONHSAT107338
5	lnc-C6orf201-3	chr6:4229460-4229582	NONHSAT107353
6	lnc-C6orf201-9	chr6:4177357-4177485	NONHSAT107337
7	lnc-C6orf201-9	chr6:4176477-4176851	NONHSAT107337
8	lnc-C6orf201-4	chr6:4100714-4102618	ucscGeneNc_uc003mwg_1
9	lnc-C6orf201-4	chr6:4100714-4101132	NONHSAT107315
10	lnc-C6orf201-2	chr6:4149984-4151154	NONHSAT107329
11	lnc-C6orf201-9	chr6:4174942-4175033	NONHSAT107337
12	lnc-C6orf201-9	chr6:4174383-4174686	NONHSAT107337
13	lnc-C6orf201-9	chr6:4171393-4171534	NONHSAT107338
14	lnc-C6orf201-9	chr6:4175301-4175438	NONHSAT107337
15	lnc-C6orf201-1	chr6:4145771-4146287	ENSG00000254821.1
16	lnc-C6orf201-9	chr6:4175945-4176083	NONHSAT107337
17	lnc-C6orf201-9	chr6:4178041-4178303	NONHSAT107337
18	lnc-C6orf201-4	chr6:4130719-4130999	NR_104464
19	lnc-C6orf201-2	chr6:4148740-4148928	NONHSAT107329
20	lnc-ECI2-1	chr6:4186667-4186871	NONHSAT107343
21	lnc-C6orf201-4	chr6:4100799-4103637	NONHSAT107304
22	lnc-C6orf201-3	chr6:4229700-4230624	NONHSAT107353
23	lnc-C6orf201-3	chr6:4226935-4227101	XLOC_005139
24	lnc-ECI2-1	chr6:4188224-4188343	ENSG00000237716
25	lnc-C6orf201-2	chr6:4150072-4151154	NONHSAT107327
26	lnc-C6orf201-4	chr6:4101545-4101595	NONHSAT107297
27	lnc-C6orf201-9	chr6:4174245-4174359	NONHSAT107338
28	lnc-C6orf201-3	chr6:4228946-4229250	NONHSAT107353
29	lnc-C6orf201-9	chr6:4177592-4177639	NONHSAT107338
30	lnc-C6orf201-9	chr6:4180256-4180378	NONHSAT107337
31	lnc-C6orf201-1	chr6:4135657-4135779	ENSG00000254821.1
32	lnc-C6orf201-2	chr6:4150072-4151154	NONHSAT107328
33	lnc-C6orf201-9	chr6:4179742-4180046	NONHSAT107337
34	lnc-ECI2-1	chr6:4188927-4188957	NONHSAT107345
35	lnc-C6orf201-2	chr6:4149464-4149524	NONHSAT107328
36	lnc-C6orf201-4	chr6:4125213-4126353	NR_104464
37	lnc-C6orf201-4	chr6:4125589-4129180	NONHSAT107320
38	lnc-C6orf201-3	chr6:4227242-4227504	NONHSAT107353
39	lnc-C6orf201-9	chr6:4171516-4172848	NONHSAT107337
40	lnc-C6orf201-9	chr6:4170809-4171118	NONHSAT107337
41	lnc-C6orf201-5	chr6:4131253-4134818	NONHSAT107321
42	lnc-C6orf201-2	chr6:4155665-4158503	NONHSAT107330
43	lnc-C6orf201-4	chr6:4130376-4130595	NR_104464
44	lnc-C6orf201-2	chr6:4143279-4144129	NONHSAT107326
45	lnc-C6orf201-4	chr6:4100199-4101281	NONHSAT107311
46	lnc-ECI2-1	chr6:4186858-4187003	ENSG00000237716
47	lnc-C6orf201-9	chr6:4181125-4184690	NONHSAT107340
48	lnc-C6orf201-9	chr6:4177672-4177920	NONHSAT107337
49	lnc-C6orf201-9	chr6:4172436-4172504	NONHSAT107339
50	lnc-C6orf201-11	chr6:4198787-4199637	NONHSAT107350

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ECI2	hsa-miR-124-3p	chr6:4116020-4116014
2	PECI	hsa-miR-21-5p	chr6:4116026-4116049
3	PECI	hsa-miR-124-3p	chr6:4116014-4116031

Variant related genes	Relation type
ENSG00000254821	TF binding region
ENSG00000234817	TF binding region
ENSG00000237716	TF binding region
C6orf201	TF binding region
ECI2	TF binding region
ENSG00000216307	TF binding region
ENSG00000254821	CpG island
ENSG00000234817	CpG island
ENSG00000237716	CpG island
C6orf201	CpG island
ECI2	CpG island
ENSG00000216307	CpG island
ENSG00000230648	chromatin interactions
ENSG00000254821	chromatin interactions
ENSG00000174444	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000234817	chromatin interactions
ENSG00000115053	chromatin interactions
ENSG00000255647	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000142102	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000198721	chromatin interactions
ENSG00000272248	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000153140	chromatin interactions
ENSG00000196998	chromatin interactions
ENSG00000145975	chromatin interactions
ENSG00000174442	chromatin interactions
ENSG00000250232	chromatin interactions
ENSG00000216307	chromatin interactions
ENSG00000112739	chromatin interactions

Extended variants
information (count: 4676 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:4676 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367770803	chr6:4100344-4100345	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs140445058	chr6:4100363-4100364	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560050046	chr6:4100385-4100386	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576914443	chr6:4100401-4100402	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs370673488	chr6:4100418-4100419	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183431906	chr6:4100437-4100438	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563337311	chr6:4100443-4100444	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs573614538	chr6:4100447-4100448	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs150440490	chr6:4100448-4100449	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs550734918	chr6:4100452-4100453	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs186835620	chr6:4100455-4100456	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs375869428	chr6:4100460-4100461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs192128339	chr6:4100474-4100475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569509473	chr6:4100484-4100485	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549592897	chr6:4100539-4100540	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs715165	chr6:4100540-4100541	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs552680747	chr6:4100557-4100558	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs569344863	chr6:4100609-4100610	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538051470	chr6:4100624-4100625	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs554705799	chr6:4100630-4100631	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568269507	chr6:4100639-4100640	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs534093499	chr6:4100694-4100695	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs553529186	chr6:4100705-4100706	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs576416574	chr6:4100707-4100708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs368550992	chr6:4100721-4100722	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs558136533	chr6:4100961-4100962	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs184220007	chr6:4100993-4100994	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs575697787	chr6:4101034-4101035	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544488459	chr6:4101098-4101099	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs571246209	chr6:4101099-4101100	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528289517	chr6:4101138-4101139	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536597013	chr6:4101158-4101159	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs530366797	chr6:4101165-4101166	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs138329323	chr6:4101167-4101168	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs560311621	chr6:4101211-4101212	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs75120668	chr6:4101215-4101216	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs376804638	chr6:4101245-4101246	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs189407604	chr6:4101256-4101257	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs112785443	chr6:4101260-4101261	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs6597029	chr6:4101264-4101265	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548134750	chr6:4101280-4101281	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs142821023	chr6:4101338-4101339	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs533878929	chr6:4101387-4101388	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs146250441	chr6:4101431-4101432	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs137990195	chr6:4101441-4101442	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs35608637	chr6:4101454-4101455	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs67656298	chr6:4101461-4101462	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs193278854	chr6:4101462-4101463	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs539062773	chr6:4101484-4101485	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs535448532	chr6:4101508-4101509	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1941 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4090800-4103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:4092600-4103000	Weak transcription	Pancreas	Pancrea
3	chr6:4098000-4101000	Weak transcription	Gastric	stomach
4	chr6:4098400-4101000	Weak transcription	HepG2	liver
5	chr6:4100800-4104400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:4101000-4101800	Enhancers	Gastric	stomach
7	chr6:4101000-4102000	Enhancers	Psoas Muscle	Psoas
8	chr6:4101000-4102800	Enhancers	HepG2	liver
9	chr6:4101000-4103400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:4101600-4101800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:4101600-4101800	Enhancers	Stomach Mucosa	stomach
12	chr6:4101800-4103000	Weak transcription	Gastric	stomach
13	chr6:4101800-4103000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:4101800-4110200	Weak transcription	Stomach Mucosa	stomach
15	chr6:4102000-4102400	Weak transcription	Psoas Muscle	Psoas
16	chr6:4102400-4102600	Enhancers	Psoas Muscle	Psoas
17	chr6:4102600-4113800	Weak transcription	Psoas Muscle	Psoas
18	chr6:4102800-4103400	Enhancers	Liver	Liver
19	chr6:4102800-4103400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:4102800-4103800	Flanking Active TSS	HepG2	liver
21	chr6:4103000-4103200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:4103000-4103400	Enhancers	Fetal Stomach	stomach
23	chr6:4103000-4103400	Enhancers	Gastric	stomach
24	chr6:4103000-4103400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr6:4103000-4103400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr6:4103000-4103600	Enhancers	Fetal Intestine Large	intestine
27	chr6:4103000-4103800	Enhancers	Fetal Intestine Small	intestine
28	chr6:4103000-4104600	Enhancers	Pancreas	Pancrea
29	chr6:4103000-4104600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr6:4103200-4103400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:4103200-4103400	Enhancers	Fetal Brain Male	brain
32	chr6:4103200-4103600	Enhancers	Brain Germinal Matrix	brain
33	chr6:4103200-4104600	Enhancers	Fetal Brain Female	brain
34	chr6:4103400-4104200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:4103400-4109800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:4103400-4110000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:4103400-4115400	Weak transcription	Fetal Brain Male	brain
38	chr6:4103400-4115600	Weak transcription	Fetal Stomach	stomach
39	chr6:4103400-4115600	Weak transcription	Gastric	stomach
40	chr6:4103600-4104000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:4103800-4105000	Enhancers	HepG2	liver
42	chr6:4103800-4108400	Weak transcription	Fetal Intestine Small	intestine
43	chr6:4104000-4104600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:4104000-4104800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:4104000-4104800	Enhancers	HMEC	breast
46	chr6:4104000-4104800	Enhancers	NHEK	skin
47	chr6:4104200-4104400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr6:4104200-4104600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:4104200-4105000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:4104400-4108400	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links