Variant report

Variant	rs548829985
Chromosome Location	chr6:76206411-76206412
allele	C/T
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	CEBPB	chr6:76205782-76206419	A549	lung:	n/a	n/a
2	GATA3	chr6:76205618-76206555	A549	lung:	n/a	chr6:76205910-76205919
3	MXI1	chr6:76205731-76206683	GM12878	blood:	n/a	n/a
4	FOSL2	chr6:76205696-76206528	A549	lung:	n/a	chr6:76205911-76205921 chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76205911-76205921 chr6:76205911-76205921 chr6:76206254-76206263 chr6:76205911-76205921 chr6:76206117-76206126 chr6:76206256-76206263
5	ZNF384	chr6:76205599-76206514	GM12878	blood:	n/a	n/a
6	IRF4	chr6:76205813-76206423	GM12878	blood:	n/a	n/a
7	JUND	chr6:76205715-76206414	SK-N-SH	brain:	n/a	chr6:76205911-76205921 chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76205911-76205921 chr6:76205911-76205921 chr6:76206254-76206263 chr6:76205911-76205921 chr6:76206117-76206126 chr6:76206256-76206263
8	CEBPB	chr6:76205819-76206472	GM12878	blood:	n/a	n/a
9	EP300	chr6:76205675-76206440	A549	lung:	n/a	chr6:76206254-76206263 chr6:76205710-76205724
10	SP1	chr6:76205696-76206451	A549	lung:	n/a	n/a
11	ATF2	chr6:76205641-76206490	GM12878	blood:	n/a	n/a
12	PML	chr6:76205878-76206492	GM12878	blood:	n/a	chr6:76206253-76206262
13	EP300	chr6:76205646-76206562	A549	lung:	n/a	chr6:76206254-76206263 chr6:76205710-76205724
14	MAZ	chr6:76205867-76206605	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
15	BHLHE40	chr6:76205834-76206532	GM12878	blood:	n/a	n/a
16	NFIC	chr6:76205797-76206653	GM12878	blood:	n/a	n/a
17	RUNX3	chr6:76205796-76206554	GM12878	blood:	n/a	n/a
18	MTA3	chr6:76205821-76206441	GM12878	blood:	n/a	n/a
19	SP1	chr6:76205718-76206524	A549	lung:	n/a	n/a
20	TCF12	chr6:76205546-76206568	A549	lung:	n/a	n/a
21	BCL3	chr6:76205722-76206420	A549	lung:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
22	BCLAF1	chr6:76205840-76206435	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263
23	NFIC	chr6:76205835-76206483	GM12878	blood:	n/a	n/a
24	EBF1	chr6:76205311-76206495	GM12878	blood:	n/a	chr6:76206011-76206024 chr6:76206011-76206022
25	CHD2	chr6:76205934-76206462	GM12878	blood:	n/a	n/a
26	BATF	chr6:76206003-76206432	GM12878	blood:	n/a	n/a
27	FOXM1	chr6:76205799-76206544	GM12878	blood:	n/a	n/a
28	SPI1	chr6:76205696-76206508	GM12878	blood:	n/a	chr6:76206061-76206068
29	JUND	chr6:76205742-76206609	SK-N-SH	brain:	n/a	chr6:76205911-76205921 chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76205911-76205921 chr6:76205911-76205921 chr6:76206254-76206263 chr6:76205911-76205921 chr6:76206117-76206126 chr6:76206256-76206263
30	JUN	chr6:76205692-76206577	K562	blood:	n/a	chr6:76205911-76205921 chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76205911-76205921 chr6:76205911-76205921 chr6:76206254-76206263 chr6:76205911-76205921 chr6:76206117-76206126 chr6:76206256-76206263
31	NFATC1	chr6:76205886-76206442	GM12878	blood:	n/a	n/a
32	RUNX3	chr6:76205851-76206504	GM12878	blood:	n/a	n/a
33	JUN	chr6:76205759-76206419	HUVEC	blood vessel:	n/a	chr6:76205911-76205921 chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76205911-76205921 chr6:76205911-76205921 chr6:76206254-76206263 chr6:76205911-76205921 chr6:76206117-76206126 chr6:76206256-76206263
34	RCOR1	chr6:76205865-76206444	GM12878	blood:	n/a	n/a
35	CUX1	chr6:76205863-76206822	GM12878	blood:	n/a	n/a
36	JUND	chr6:76206011-76206460	K562	blood:	n/a	chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76206254-76206263 chr6:76206117-76206126 chr6:76206256-76206263
37	JUND	chr6:76205826-76206468	A549	lung:	n/a	chr6:76205911-76205921 chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76205911-76205921 chr6:76205911-76205921 chr6:76206254-76206263 chr6:76205911-76205921 chr6:76206117-76206126 chr6:76206256-76206263
38	SETDB1	chr6:76206327-76206578	U2OS	brain:	n/a	n/a
39	EP300	chr6:76205501-76206485	GM12878	blood:	n/a	chr6:76206254-76206263 chr6:76205710-76205724
40	JUND	chr6:76205790-76206538	GM12878	blood:	n/a	chr6:76205911-76205921 chr6:76206255-76206263 chr6:76206251-76206262 chr6:76206258-76206270 chr6:76206253-76206265 chr6:76205911-76205921 chr6:76205911-76205921 chr6:76206254-76206263 chr6:76205911-76205921 chr6:76206117-76206126 chr6:76206256-76206263
41	RELA	chr6:76205559-76206421	GM12878	blood:	n/a	n/a
42	TBP	chr6:76205599-76206429	GM12878	blood:	n/a	n/a
43	EP300	chr6:76205933-76206510	GM12878	blood:	n/a	chr6:76206254-76206263
44	NFATC1	chr6:76205821-76206436	GM12878	blood:	n/a	n/a
45	FOXM1	chr6:76205919-76206497	GM12878	blood:	n/a	n/a
46	IKZF1	chr6:76205855-76206457	GM12878	blood:	n/a	n/a
47	STAT5A	chr6:76205933-76206417	GM12878	blood:	n/a	chr6:76206254-76206263 chr6:76206255-76206264
48	BATF	chr6:76205872-76206476	GM12878	blood:	n/a	n/a
49	ATF2	chr6:76205848-76206431	GM12878	blood:	n/a	n/a
50	BCL11A	chr6:76205939-76206474	GM12878	blood:	n/a	chr6:76206255-76206264 chr6:76206254-76206263

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76203068..76205188-chr6:76206282..76208082,2	MCF-7	breast:
2	chr6:76195765..76197358-chr6:76204255..76207065,2	K562	blood:

Variant related genes	Relation type
FILIP1	TF binding region
RPL26P20	TF binding region
ENSG00000118407	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
8	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv603770	chr6:76200514-76277296	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv5353	chr6:76205962-76218316	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76203200-76214400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:76203800-76214400	Weak transcription	Left Ventricle	heart
3	chr6:76203800-76215000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:76204000-76206800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:76204000-76209400	Weak transcription	Psoas Muscle	Psoas
6	chr6:76204200-76206600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:76204400-76206600	Enhancers	Adipose Nuclei	Adipose
8	chr6:76205000-76213600	Enhancers	HUVEC	blood vessel
9	chr6:76205400-76206600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:76205400-76206600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr6:76205400-76208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:76205400-76213200	Weak transcription	NHLF	lung
13	chr6:76205600-76206600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:76206000-76208600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:76206200-76206600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:76206200-76206600	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:76206200-76206600	Active TSS	A549	lung
18	chr6:76206200-76208600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:76206200-76208600	Weak transcription	Fetal Heart	heart
20	chr6:76206200-76211600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:76206400-76207600	Weak transcription	Fetal Lung	lung
22	chr6:76206400-76209400	Weak transcription	Colon Smooth Muscle	Colon

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