Variant report

Variant	rs556454773
Chromosome Location	chr3:178980190-178980191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr3:178979973-178980745	K562	blood:	n/a	n/a
2	NFYB	chr3:178980158-178980551	GM12878	blood:	n/a	n/a
3	HEY1	chr3:178980097-178980452	K562	blood:	n/a	n/a
4	POLR2A	chr3:178980189-178980209	K562	blood:	n/a	n/a
5	POLR2A	chr3:178980091-178980459	K562	blood:	n/a	n/a
6	NFYB	chr3:178980183-178980675	K562	blood:	n/a	n/a
7	POLR2A	chr3:178980070-178980463	GM12892	blood:	n/a	n/a
8	HEY1	chr3:178980190-178980435	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178978446..178980464-chr3:179279567..179281993,2	K562	blood:
2	chr3:178971723..178977145-chr3:178977567..178980865,6	K562	blood:
3	chr3:178863877..178868371-chr3:178977065..178980370,6	K562	blood:
4	chr3:178976479..178980556-chr3:178981755..178985679,10	K562	blood:
5	chr3:178787758..178789707-chr3:178977770..178980269,2	MCF-7	breast:
6	chr3:178976102..178980828-chr3:178981002..178985885,12	K562	blood:
7	chr3:178978041..178980864-chr3:179039699..179042008,3	K562	blood:
8	chr3:178977469..178980839-chr3:179038593..179042214,6	K562	blood:

No data

Variant related genes	Relation type
KCNMB3	TF binding region
LRRFIP1P1	TF binding region
ENSG00000121864	Chromatin interaction
ENSG00000171121	Chromatin interaction
ENSG00000121879	Chromatin interaction
ENSG00000172667	Chromatin interaction
ENSG00000229102	Chromatin interaction
ENSG00000136518	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1010137	chr3:178962897-179050787	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
10	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv1010513	chr3:178976107-179196274	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv536816	chr3:178976107-179196274	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv1014953	chr3:178977844-179006633	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv1012352	chr3:178979923-179008056	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv999069	chr3:178979923-179013281	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178979000-178980400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr3:178979400-178984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:178979600-178980200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:178979600-178980200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:178979600-178980400	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:178979600-178980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:178979600-178981000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:178979600-178984000	Weak transcription	Right Ventricle	heart
9	chr3:178979600-178984400	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:178979800-178980200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:178979800-178980200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:178979800-178980200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:178979800-178980200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:178979800-178980400	Enhancers	Primary B cells from cord blood	blood
15	chr3:178979800-178980400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr3:178979800-178981800	Weak transcription	Thymus	Thymus
17	chr3:178979800-178983800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:178979800-178984200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:178979800-178984200	Weak transcription	HUVEC	blood vessel
20	chr3:178980000-178980200	Enhancers	Primary T cells from cord blood	blood
21	chr3:178980000-178980200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:178980000-178980200	Flanking Active TSS	GM12878-XiMat	blood
23	chr3:178980000-178980200	Active TSS	Hela-S3	cervix
24	chr3:178980000-178980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:178980000-178982200	Weak transcription	K562	blood
26	chr3:178980000-178983600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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