Variant report

Variant	nsv1022933
Chromosome Location	chr6:57308983-57751479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3536)
CpG islands
(count:550)
Chromatin interactive
region (count:58)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3536 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:57392130-57392164	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:57364923-57365929	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:57445284-57445884	K562	blood:	n/a	n/a
4	ARID3A	chr6:57445471-57445872	HepG2	liver:	n/a	n/a
5	ATF1	chr6:57329848-57330048	K562	blood:	n/a	n/a
6	ATF1	chr6:57388328-57388901	K562	blood:	n/a	n/a
7	ATF1	chr6:57414346-57414465	K562	blood:	n/a	n/a
8	ATF1	chr6:57433964-57434331	K562	blood:	n/a	n/a
9	ATF1	chr6:57573821-57574021	K562	blood:	n/a	n/a
10	ATF1	chr6:57529957-57530116	K562	blood:	n/a	n/a
11	ATF1	chr6:57618389-57618391	K562	blood:	n/a	n/a
12	ATF1	chr6:57432706-57432903	K562	blood:	n/a	n/a
13	ATF1	chr6:57487670-57487865	K562	blood:	n/a	n/a
14	ATF1	chr6:57483779-57483974	K562	blood:	n/a	n/a
15	ATF1	chr6:57386257-57386379	K562	blood:	n/a	n/a
16	ATF1	chr6:57483250-57483369	K562	blood:	n/a	n/a
17	ATF1	chr6:57422764-57422956	K562	blood:	n/a	n/a
18	BACH1	chr6:57334050-57334159	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr6:57486231-57486242	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr6:57350106-57350125	K562	blood:	n/a	n/a
21	BACH1	chr6:57365814-57365865	K562	blood:	n/a	n/a
22	BACH1	chr6:57337567-57337643	K562	blood:	n/a	n/a
23	BACH1	chr6:57388299-57388865	K562	blood:	n/a	n/a
24	BACH1	chr6:57501831-57501836	K562	blood:	n/a	n/a
25	BACH1	chr6:57419536-57419915	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr6:57408878-57409078	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr6:57545381-57545540	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr6:57526352-57526945	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr6:57488136-57488168	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr6:57364094-57364109	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr6:57541125-57541357	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr6:57363671-57363854	K562	blood:	n/a	n/a
33	BACH1	chr6:57439570-57440015	H1-hESC	embryonic stem cell:	n/a	n/a
34	BATF	chr6:57705853-57706117	GM12878	blood:	n/a	chr6:57706041-57706049
35	BATF	chr6:57705851-57706122	GM12878	blood:	n/a	chr6:57706041-57706049
36	BCL11A	chr6:57705880-57706094	GM12878	blood:	n/a	n/a
37	BCL11A	chr6:57705843-57706108	GM12878	blood:	n/a	n/a
38	BHLHE40	chr6:57375272-57375472	GM12878	blood:	n/a	n/a
39	BHLHE40	chr6:57450923-57451339	A549	lung:	n/a	n/a
40	BHLHE40	chr6:57474969-57474972	K562	blood:	n/a	n/a
41	BHLHE40	chr6:57473286-57473332	GM12878	blood:	n/a	n/a
42	BHLHE40	chr6:57395851-57396136	HepG2	liver:	n/a	n/a
43	BHLHE40	chr6:57396741-57396999	GM12878	blood:	n/a	n/a
44	BHLHE40	chr6:57519324-57519409	K562	blood:	n/a	n/a
45	BHLHE40	chr6:57440441-57440461	GM12878	blood:	n/a	n/a
46	BHLHE40	chr6:57469073-57469074	GM12878	blood:	n/a	n/a
47	BRCA1	chr6:57518070-57518209	HepG2	liver:	n/a	n/a
48	BRCA1	chr6:57489991-57490136	GM12878	blood:	n/a	n/a
49	BRCA1	chr6:57525275-57525333	GM12878	blood:	n/a	n/a
50	BRCA1	chr6:57574332-57574500	GM12878	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:57614321-57614371	T-47D	breast:	n/a
2	chr6:57614321-57614371	T-47D	breast:	n/a
3	chr6:57614321-57614371	HEK293	kidney:	embryo
4	chr6:57391815-57391865	AG10803	skin:	n/a
5	chr6:57447898-57447948	LNCaP	prostate:	n/a
6	chr6:57614321-57614371	SAEC	small airway:	n/a
7	chr6:57447898-57447948	HRPEpiC	eye:	n/a
8	chr6:57447898-57447948	HRE	kidney:	n/a
9	chr6:57339858-57339908	HRE	kidney:	n/a
10	chr6:57350270-57350320	HRCEpiC	kidney:	n/a
11	chr6:57391815-57391865	AG09319	gingival:	n/a
12	chr6:57614321-57614371	HUVEC	blood vessel:	n/a
13	chr6:57359134-57359184	A549	lung:	n/a
14	chr6:57350270-57350320	SAEC	small airway:	n/a
15	chr6:57339858-57339908	CMK	blood:	n/a
16	chr6:57385844-57385894	GM12891	blood:	n/a
17	chr6:57391815-57391865	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:57385844-57385894	Caco-2	colon:	n/a
19	chr6:57350270-57350320	T-47D	breast:	n/a
20	chr6:57391815-57391865	ECC-1	luminal epithelium:	n/a
21	chr6:57350270-57350320	RPTEC	kidney:	n/a
22	chr6:57384347-57384397	AG09309	skin:	n/a
23	chr6:57359134-57359184	HCPEpiC	choroid plexus:	n/a
24	chr6:57350270-57350320	ECC-1	luminal epithelium:	n/a
25	chr6:57359134-57359184	BJ	skin:	n/a
26	chr6:57339858-57339908	PrEC	prostate:	n/a
27	chr6:57339858-57339908	HCF	heart:	n/a
28	chr6:57614321-57614371	Caco-2	colon:	n/a
29	chr6:57391815-57391865	SAEC	small airway:	n/a
30	chr6:57339858-57339908	LNCaP	prostate:	n/a
31	chr6:57447898-57447948	AG04449	skin:	fetal
32	chr6:57447898-57447948	NH-A	brain:	n/a
33	chr6:57335405-57335455	GM06990	blood:	n/a
34	chr6:57384347-57384397	A549	lung:	n/a
35	chr6:57350270-57350320	NT2-D1	testis:	n/a
36	chr6:57391815-57391865	HRPEpiC	eye:	n/a
37	chr6:57614321-57614371	NHDF-neo	bronchial:	n/a
38	chr6:57339858-57339908	NHBE	bronchial:	n/a
39	chr6:57385844-57385894	SK-N-MC	brain:	n/a
40	chr6:57614321-57614371	GM12891	blood:	n/a
41	chr6:57385844-57385894	HMEC	breast:	n/a
42	chr6:57614321-57614371	PANC-1	pancreas:	n/a
43	chr6:57384347-57384397	K562	blood:	n/a
44	chr6:57391815-57391865	GM19239	blood:	n/a
45	chr6:57614321-57614371	K562	blood:	n/a
46	chr6:57359134-57359184	AoSMC	blood vessel:	n/a
47	chr6:57447898-57447948	ProgFib	skin:	n/a
48	chr6:57359134-57359184	RPTEC	kidney:	n/a
49	chr6:57335405-57335455	PANC-1	pancreas:	n/a
50	chr6:57384347-57384397	SK-N-MC	brain:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
2	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
3	chr6:57445356..57445958-chr6:57689666..57690275,2	MCF-7	breast:
4	chr6:57370604..57372865-chr6:57373848..57376238,2	K562	blood:
5	chr6:57393591..57395977-chr6:57407320..57409957,2	MCF-7	breast:
6	chr6:57489928..57493477-chr6:57494690..57497411,3	K562	blood:
7	chr6:57445356..57445958-chr6:57689666..57690275,2	MCF-7	breast:
8	chr3:81978758..81979420-chr6:57518103..57518962,2	MCF-7	breast:
9	chr6:57361390..57363831-chr6:57368584..57370615,2	MCF-7	breast:
10	chr11:17753668..17754453-chr6:57615850..57616702,2	MCF-7	breast:
11	chr6:57371365..57373576-chr6:57373848..57375922,2	K562	blood:
12	chr6:57380965..57383908-chr6:57390419..57392004,2	K562	blood:
13	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
14	chr6:57344628..57347602-chr6:57348060..57349813,2	K562	blood:
15	chr18:1906473..1906973-chr6:57539499..57540003,2	MCF-7	breast:
16	chr6:57370604..57372865-chr6:57373848..57376238,2	K562	blood:
17	chr6:57541185..57543919-chr8:104728155..104729992,2	MCF-7	breast:
18	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:
19	chr6:57380965..57383908-chr6:57390419..57392004,2	K562	blood:
20	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
21	chr6:57489928..57492575-chr6:57494690..57497411,2	K562	blood:
22	chr6:57429189..57431102-chr6:57440501..57442862,2	MCF-7	breast:
23	chr6:57437551..57439992-chr6:57443844..57446833,2	K562	blood:
24	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
25	chr6:57405693..57407850-chr6:57408076..57409919,2	K562	blood:
26	chr4:92702026..92702759-chr6:57445422..57446224,2	MCF-7	breast:
27	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
28	chr6:57393591..57395977-chr6:57407320..57409957,2	MCF-7	breast:
29	chr6:57217129..57218039-chr6:57539079..57539990,3	MCF-7	breast:
30	chr6:57337415..57340116-chr6:57349926..57352459,2	K562	blood:
31	chr6:57386101..57388103-chr6:57389445..57391300,2	K562	blood:
32	chr6:57358740..57361214-chr6:57362213..57364300,2	K562	blood:
33	chr6:57394320..57396660-chr6:58286293..58287831,2	MCF-7	breast:
34	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
35	chr6:57346719..57348670-chr6:57349128..57351994,2	MCF-7	breast:
36	chr6:57472415..57474751-chr6:57478817..57480386,2	K562	blood:
37	chr6:57472415..57474751-chr6:57478817..57480386,2	K562	blood:
38	chr6:57337415..57340116-chr6:57349926..57352459,2	K562	blood:
39	chr6:57396857..57397774-chr9:95368803..95369303,2	MCF-7	breast:
40	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
41	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:
42	chr6:57349293..57351634-chr6:57356907..57359151,3	MCF-7	breast:
43	chr6:57232895..57235001-chr6:57373838..57375777,2	K562	blood:
44	chr6:57358740..57361214-chr6:57362213..57364300,2	K562	blood:
45	chr6:57489928..57493477-chr6:57494690..57497411,3	K562	blood:
46	chr6:57405693..57407850-chr6:57408076..57409919,2	K562	blood:
47	chr6:57489928..57492575-chr6:57494690..57497411,2	K562	blood:
48	chr6:57371365..57373576-chr6:57373848..57375922,2	K562	blood:
49	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
50	chr6:57386101..57388103-chr6:57389445..57391300,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB23-12	chr6:57543887-57544127	NONHSAT113297
2	lnc-BAG2-1	chr6:57362331-57362565	ENSG00000266579.1
3	lnc-BAG2-1	chr6:57358736-57358845	ENSG00000266579.1
4	lnc-BAG2-3	chr6:57690895-57690956	XLOC_005331
5	lnc-RAB23-13	chr6:57674277-57674350	NONHSAT113298
6	lnc-RAB23-12	chr6:57551484-57551584	NONHSAT113297
7	lnc-RAB23-14	chr6:57686969-57687949	NONHSAT113299
8	lnc-RAB23-13	chr6:57671339-57671489	NONHSAT113298
9	lnc-BAG2-3	chr6:57691393-57691645	XLOC_005331

No data

Variant related genes	Relation type
ENSG00000231273	TF binding region
GAPDHP41	TF binding region
PRIM2	TF binding region
ENSG00000266579	TF binding region
ENSG00000231273	CpG island
GAPDHP41	CpG island
PRIM2	CpG island
ENSG00000266579	CpG island
ENSG00000263745	chromatin interactions
ENSG00000215190	chromatin interactions
ENSG00000146143	chromatin interactions
ENSG00000266579	chromatin interactions
NR3C1	miRNA target sites
PNN	miRNA target sites

Extended variants
information (count: 19250 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:19250 , 50 per page) page: 1 2 3 4 5 6 7 ... 385

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533012468	chr6:57309093-57309094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145974315	chr6:57309094-57309095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374064587	chr6:57309095-57309096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138391603	chr6:57309132-57309133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74584198	chr6:57309137-57309138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113713942	chr6:57309138-57309139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370714674	chr6:57309142-57309143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62399074	chr6:57309148-57309149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550236997	chr6:57309162-57309163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62399075	chr6:57309177-57309178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9475966	chr6:57309223-57309224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386701532	chr6:57309232-57309233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112314560	chr6:57309234-57309235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113618226	chr6:57309238-57309239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538877524	chr6:57309255-57309256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111336989	chr6:57309290-57309291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182544691	chr6:57309300-57309301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9475967	chr6:57309313-57309314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151207245	chr6:57309320-57309321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533678114	chr6:57309337-57309338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554938129	chr6:57309351-57309352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377038495	chr6:57309352-57309353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9475968	chr6:57309356-57309357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142115128	chr6:57309364-57309365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111769633	chr6:57309365-57309366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200028615	chr6:57309369-57309370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66824143	chr6:57309381-57309382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573582144	chr6:57309382-57309383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574180838	chr6:57309400-57309401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370822569	chr6:57309417-57309418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9475969	chr6:57309433-57309434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5023908	chr6:57309445-57309446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5023907	chr6:57309475-57309476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5023906	chr6:57309537-57309538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544486969	chr6:57309609-57309610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113581850	chr6:57309635-57309636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137868454	chr6:57309639-57309640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5003054	chr6:57309681-57309682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556194904	chr6:57309789-57309790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200057294	chr6:57309790-57309791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5003055	chr6:57309813-57309814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5003056	chr6:57309839-57309840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371471388	chr6:57309841-57309842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560536811	chr6:57309845-57309846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572554684	chr6:57309872-57309873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191682085	chr6:57309912-57309913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5003057	chr6:57309914-57309915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs5003058	chr6:57309915-57309916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs5876568	chr6:57309965-57309966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149234735	chr6:57309966-57309967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57286600-57310200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:57289000-57310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:57298000-57309800	Weak transcription	Dnd41	blood
4	chr6:57298600-57310800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:57302800-57310600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:57303800-57311400	Weak transcription	Pancreas	Pancrea
7	chr6:57306000-57310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:57306000-57310600	Weak transcription	HSMMtube	muscle
9	chr6:57306200-57310000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:57306200-57310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:57306400-57310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:57306800-57310000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:57306800-57310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:57307200-57310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:57307200-57310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:57307200-57311400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:57307400-57310400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:57307400-57311600	Weak transcription	Left Ventricle	heart
19	chr6:57307600-57310200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:57307800-57310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:57307800-57310600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:57307800-57313400	Weak transcription	Fetal Heart	heart
23	chr6:57308000-57310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:57308000-57310200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:57308000-57310200	Weak transcription	HSMM	muscle
26	chr6:57308200-57310200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:57308200-57311200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:57308400-57310000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:57308400-57310000	Weak transcription	Osteobl	bone
30	chr6:57308400-57310600	Weak transcription	NHDF-Ad	bronchial
31	chr6:57308600-57310600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:57309600-57311800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:57309800-57310200	Enhancers	HUVEC	blood vessel
34	chr6:57309800-57311800	Enhancers	Dnd41	blood
35	chr6:57309800-57313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:57310000-57310200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:57310000-57310600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:57310000-57310800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:57310000-57310800	Enhancers	Primary T cells from cord blood	blood
40	chr6:57310000-57310800	ZNF genes & repeats	HepG2	liver
41	chr6:57310000-57311000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:57310000-57311000	Enhancers	GM12878-XiMat	blood
43	chr6:57310000-57311000	Enhancers	Osteobl	bone
44	chr6:57310200-57310400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:57310200-57310600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:57310200-57310600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:57310200-57310600	Enhancers	HSMM	muscle
48	chr6:57310200-57310600	Weak transcription	NHLF	lung
49	chr6:57310200-57310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr6:57310200-57311000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links