Variant report

Variant	nsv879526
Chromosome Location	chr4:88062611-88087832
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	chr4:88087091-88087374	HepG2	liver:	n/a	n/a
2	ATF1	chr4:88072080-88072363	K562	blood:	n/a	n/a
3	ATF2	chr4:88071926-88072383	GM12878	blood:	n/a	n/a
4	BATF	chr4:88072006-88072261	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:88078550-88078561	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:88071988-88072326	GM12878	blood:	n/a	n/a
7	CEBPB	chr4:88067170-88067377	Hela-S3	cervix:	n/a	chr4:88067275-88067286
8	CEBPB	chr4:88067137-88067379	IMR90	lung:	n/a	chr4:88067275-88067286
9	CEBPB	chr4:88067150-88067389	K562	blood:	n/a	chr4:88067275-88067286
10	CEBPB	chr4:88067186-88067444	K562	blood:	n/a	chr4:88067275-88067286
11	CEBPB	chr4:88087062-88087379	HepG2	liver:	n/a	n/a
12	CEBPB	chr4:88067192-88067341	H1-hESC	embryonic stem cell:	n/a	chr4:88067275-88067286
13	CEBPB	chr4:88067171-88067379	HepG2	liver:	n/a	chr4:88067275-88067286
14	CEBPB	chr4:88062757-88062831	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr4:88072020-88072170	K562	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
16	CTCF	chr4:88072060-88072210	HEEpiC	esophagus:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
17	CTCF	chr4:88072040-88072190	A549	lung:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
18	CTCF	chr4:88072040-88072190	HPAF	blood vessel:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
19	CTCF	chr4:88071997-88072217	GM20000	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
20	CTCF	chr4:88071734-88072685	A549	lung:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
21	CTCF	chr4:88071838-88072368	HCT-116	colon:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
22	CTCF	chr4:88072040-88072190	AG04449	skin:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
23	CTCF	chr4:88071920-88072070	HAc	cerebellar:	n/a	n/a
24	CTCF	chr4:88072020-88072170	GM12875	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
25	CTCF	chr4:88072004-88072233	GM10266	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
26	CTCF	chr4:88071123-88071164	GM10248	blood:	n/a	n/a
27	CTCF	chr4:88072020-88072170	MCF-7	breast:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
28	CTCF	chr4:88071980-88072289	HUVEC	blood vessel:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
29	CTCF	chr4:88072020-88072170	GM12866	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
30	CTCF	chr4:88072060-88072210	Caco-2	colon:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
31	CTCF	chr4:88072040-88072190	AG09309	skin:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
32	CTCF	chr4:88071994-88072267	MCF-7	breast:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
33	CTCF	chr4:88072060-88072210	HCPEpiC	choroid plexus:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
34	CTCF	chr4:88072040-88072190	SK-N-SH_RA	brain:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
35	CTCF	chr4:88071681-88072608	SK-N-SH	brain:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
36	CTCF	chr4:88071957-88072359	A549	lung:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
37	CTCF	chr4:88072020-88072170	NHLF	lung:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
38	CTCF	chr4:88072040-88072190	HRPEpiC	eye:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
39	CTCF	chr4:88072060-88072210	NHDF-neo	bronchial:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
40	CTCF	chr4:88072024-88072236	MCF-7	breast:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
41	CTCF	chr4:88072040-88072190	HepG2	liver:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
42	CTCF	chr4:88072060-88072210	HPAF	blood vessel:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
43	CTCF	chr4:88072020-88072170	HAc	cerebellar:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
44	CTCF	chr4:88072060-88072210	AG09319	gingival:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
45	CTCF	chr4:88072060-88072210	GM12878	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
46	CTCF	chr4:88071996-88072253	LNCaP	prostate:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
47	CTCF	chr4:88072000-88072150	GM12864	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
48	CTCF	chr4:88071900-88072360	MCF-7	breast:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
49	CTCF	chr4:88072060-88072210	GM06990	blood:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139
50	CTCF	chr4:88072060-88072210	AG04450	lung:	n/a	chr4:88072126-88072134 chr4:88072122-88072138 chr4:88072123-88072144 chr4:88072121-88072139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:88084297-88084347	HIPEpiC	eye:	n/a
2	chr4:88084297-88084347	HRE	kidney:	n/a
3	chr4:88084297-88084347	LNCaP	prostate:	n/a
4	chr4:88084297-88084347	PANC-1	pancreas:	n/a
5	chr4:88084297-88084347	HepG2	liver:	n/a
6	chr4:88084297-88084347	HEK293	kidney:	embryo
7	chr4:88084297-88084347	AG09319	gingival:	n/a
8	chr4:88084297-88084347	BJ	skin:	n/a
9	chr4:88084297-88084347	HRCEpiC	kidney:	n/a
10	chr4:88084297-88084347	HMEC	breast:	n/a
11	chr4:88084297-88084347	PFSK-1	brain:	n/a
12	chr4:88084297-88084347	K562	blood:	n/a
13	chr4:88084297-88084347	HEEpiC	esophagus:	n/a
14	chr4:88084297-88084347	NB4	blood:	n/a
15	chr4:88084297-88084347	AG09309	skin:	n/a
16	chr4:88084297-88084347	Jurkat	blood:	n/a
17	chr4:88084297-88084347	HPAEpiC	pulmonary alveolar:	n/a
18	chr4:88084297-88084347	BE2_C	brain:	n/a
19	chr4:88084297-88084347	CMK	blood:	n/a
20	chr4:88084297-88084347	GM12892	blood:	n/a
21	chr4:88084297-88084347	SK-N-SH	brain:	n/a
22	chr4:88084297-88084347	HCF	heart:	n/a
23	chr4:88084297-88084347	GM06990	blood:	n/a
24	chr4:88084297-88084347	U87	brain:	n/a
25	chr4:88084297-88084347	NT2-D1	testis:	n/a
26	chr4:88084297-88084347	H1-hESC	embryonic stem cell:	embryo
27	chr4:88084297-88084347	HUVEC	blood vessel:	n/a
28	chr4:88084297-88084347	AG04450	lung:	fetal
29	chr4:88084297-88084347	AoSMC	blood vessel:	n/a
30	chr4:88084297-88084347	Hepatocyte	liver:	n/a
31	chr4:88084297-88084347	ProgFib	skin:	n/a
32	chr4:88084297-88084347	HL-60	blood:	n/a
33	chr4:88084297-88084347	GM12878	blood:	n/a
34	chr4:88084297-88084347	PrEC	prostate:	n/a
35	chr4:88084297-88084347	AG10803	skin:	n/a
36	chr4:88084297-88084347	GM19239	blood:	n/a
37	chr4:88084297-88084347	HRPEpiC	eye:	n/a
38	chr4:88084297-88084347	NH-A	brain:	n/a
39	chr4:88084297-88084347	HCT-116	colon:	n/a
40	chr4:88084297-88084347	ECC-1	luminal epithelium:	n/a
41	chr4:88084297-88084347	MCF10A-Er-Src	breast:	n/a
42	chr4:88084297-88084347	SAEC	small airway:	n/a
43	chr4:88084297-88084347	SKMC	muscle:	n/a
44	chr4:88084297-88084347	SK-N-MC	brain:	n/a
45	chr4:88084297-88084347	A549	lung:	n/a
46	chr4:88084297-88084347	SK-N-SH_RA	brain:	n/a
47	chr4:88084297-88084347	MCF-7	breast:	n/a
48	chr4:88084297-88084347	HCM	heart:	n/a
49	chr4:88084297-88084347	HCPEpiC	choroid plexus:	n/a
50	chr4:88084297-88084347	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:87926495..87928144-chr4:88064956..88066726,2	K562	blood:
2	chr4:88082449..88084171-chr4:88140613..88143085,2	K562	blood:
3	chr4:88074161..88076670-chr4:88078019..88080367,3	K562	blood:
4	chr4:88072030..88072602-chr4:88156658..88157542,4	K562	blood:
5	chr4:88071680..88075661-chr4:88075865..88079519,3	K562	blood:
6	chr4:88080087..88082421-chr4:88086230..88088491,2	K562	blood:
7	chr4:88080915..88083555-chr4:88157675..88159786,2	K562	blood:
8	chr4:87861846..87864713-chr4:88083470..88086069,2	K562	blood:
9	chr4:87855857..87857774-chr4:88064541..88066623,2	MCF-7	breast:
10	chr4:87843646..87844235-chr4:88071692..88072390,2	K562	blood:
11	chr4:88074398..88076033-chr4:88140521..88142472,2	MCF-7	breast:
12	chr4:88072049..88072620-chr4:88386607..88387532,2	K562	blood:
13	chr4:88078325..88080937-chr4:88140370..88142263,2	K562	blood:
14	chr4:88055050..88057902-chr4:88066373..88068330,2	K562	blood:
15	chr4:88062349..88065075-chr4:88140777..88142398,2	K562	blood:
16	chr4:88066236..88067961-chr4:88070218..88071867,2	K562	blood:
17	chr4:88071641..88072544-chr4:88156633..88157658,5	MCF-7	breast:
18	chr4:88071680..88075661-chr4:88075865..88079519,3	K562	blood:
19	chr4:87928676..87930653-chr4:88070538..88073339,2	K562	blood:
20	chr4:88078898..88080937-chr4:88140370..88142896,2	K562	blood:
21	chr4:88074161..88076670-chr4:88078019..88080367,3	K562	blood:
22	chr4:88080730..88082898-chr4:88152157..88153805,2	K562	blood:
23	chr4:88052309..88054670-chr4:88061285..88063216,2	MCF-7	breast:
24	chr4:88057518..88060731-chr4:88068893..88070799,3	MCF-7	breast:
25	chr4:88071474..88072455-chr4:88156680..88157256,2	MCF-7	breast:
26	chr4:88086859..88089641-chr4:88141106..88143015,2	K562	blood:
27	chr4:88066236..88067961-chr4:88070218..88071867,2	K562	blood:
28	chr4:88056797..88059006-chr4:88063394..88065724,2	K562	blood:
29	chr4:88083143..88085196-chr4:88088786..88091153,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL8-2	chr4:88073571-88073718	ucscGeneNc_uc003hqf_1
2	lnc-KLHL8-2	chr4:88074663-88075026	ucscGeneNc_uc003hqf_1
3	lnc-KLHL8-2	chr4:88065070-88066502	ucscGeneNc_uc003hqf_1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KLHL8	hsa-miR-215-5p	chr4:88084625-88084648
2	KLHL8	hsa-miR-192-5p	chr4:88084625-88084648

Variant related genes	Relation type
ENSG00000248196	TF binding region
ENSG00000248196	CpG island
ENSG00000248196	chromatin interactions
ENSG00000145332	chromatin interactions
ENSG00000163633	chromatin interactions
ENSG00000172493	chromatin interactions

Extended variants
information (count: 977 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2926511	chr4:88062611-88062612	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376399993	chr4:88062615-88062616	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142458830	chr4:88062661-88062662	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541159237	chr4:88062695-88062696	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548622533	chr4:88062700-88062701	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567134965	chr4:88062711-88062712	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531371306	chr4:88062790-88062791	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189911385	chr4:88062814-88062815	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549689587	chr4:88062821-88062822	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180735818	chr4:88062843-88062844	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571543609	chr4:88062850-88062851	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538538371	chr4:88062856-88062857	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182073662	chr4:88062863-88062864	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566747145	chr4:88062879-88062880	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72866984	chr4:88062924-88062925	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555856878	chr4:88062940-88062941	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532536233	chr4:88062981-88062982	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143901179	chr4:88062993-88062994	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574299238	chr4:88063009-88063010	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542996523	chr4:88063030-88063031	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556465575	chr4:88063042-88063043	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73837806	chr4:88063054-88063055	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545375487	chr4:88063058-88063059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560098015	chr4:88063072-88063073	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561389203	chr4:88063124-88063125	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140109079	chr4:88063130-88063131	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577986346	chr4:88063134-88063135	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187055838	chr4:88063158-88063159	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531287986	chr4:88063209-88063210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529916937	chr4:88063259-88063260	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549979572	chr4:88063262-88063263	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189363993	chr4:88063295-88063296	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532481549	chr4:88063319-88063320	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs66477840	chr4:88063359-88063360	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180684396	chr4:88063403-88063404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146923900	chr4:88063421-88063422	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549521016	chr4:88063433-88063434	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185067250	chr4:88063471-88063472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563610336	chr4:88063473-88063474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189848736	chr4:88063527-88063528	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182882676	chr4:88063563-88063564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538334178	chr4:88063584-88063585	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574024729	chr4:88063613-88063614	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556764530	chr4:88063701-88063702	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs578077414	chr4:88063744-88063745	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186049126	chr4:88063756-88063757	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34991614	chr4:88063757-88063758	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs397881336	chr4:88063758-88063759	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200500998	chr4:88063768-88063769	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35134653	chr4:88063769-88063770	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:88026400-88063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:88035600-88063800	Strong transcription	Primary T cells from cord blood	blood
4	chr4:88036400-88063600	Weak transcription	Fetal Brain Male	brain
5	chr4:88042800-88069400	Strong transcription	Placenta	Placenta
6	chr4:88043400-88064800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:88043600-88064600	Strong transcription	GM12878-XiMat	blood
8	chr4:88044600-88067600	Strong transcription	Primary B cells from cord blood	blood
9	chr4:88045600-88063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:88045600-88063800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:88045800-88063000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:88045800-88067600	Strong transcription	Fetal Thymus	thymus
13	chr4:88046200-88064200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:88047200-88067000	Strong transcription	Liver	Liver
15	chr4:88047800-88064200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:88049400-88064200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:88053600-88082000	Weak transcription	HSMM	muscle
18	chr4:88054400-88066800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:88055200-88102800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:88055400-88072200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:88055600-88065400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:88055600-88072200	Weak transcription	Fetal Kidney	kidney
23	chr4:88055800-88068200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:88056200-88062800	Weak transcription	Psoas Muscle	Psoas
25	chr4:88056200-88063600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:88056200-88067400	Weak transcription	HSMMtube	muscle
27	chr4:88056400-88064400	Weak transcription	Fetal Heart	heart
28	chr4:88056600-88090600	Weak transcription	Brain Angular Gyrus	brain
29	chr4:88056800-88063600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:88057000-88065600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:88057800-88063800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:88057800-88065600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:88057800-88068800	Weak transcription	Right Ventricle	heart
34	chr4:88057800-88072600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:88057800-88073800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:88057800-88074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:88058200-88063800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:88058200-88063800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:88058200-88064200	Weak transcription	NH-A	brain
40	chr4:88058200-88064400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:88058200-88066600	Weak transcription	NHEK	skin
42	chr4:88058200-88067200	Weak transcription	Aorta	Aorta
43	chr4:88058200-88067400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:88058200-88068000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:88058200-88068600	Weak transcription	Gastric	stomach
46	chr4:88058200-88082400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:88058200-88109000	Weak transcription	Lung	lung
48	chr4:88058400-88063400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:88058400-88068000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:88058400-88074000	Weak transcription	Hela-S3	cervix

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