Variant report

Variant	rs554880979
Chromosome Location	chr3:178733136-178733137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178733040..178733565-chr3:179039064..179039702,4	K562	blood:
2	chr3:178732002..178735693-chr3:178752423..178754842,3	K562	blood:
3	chr3:178732575..178734006-chr3:179033177..179034478,10	K562	blood:
4	chr3:178726976..178728535-chr3:178731027..178733316,2	K562	blood:
5	chr3:178733073..178733959-chr3:178864672..178865566,2	MCF-7	breast:
6	chr3:178733066..178734018-chr3:178786781..178787974,3	MCF-7	breast:
7	chr3:178731577..178735974-chr3:179037653..179042692,7	K562	blood:
8	chr3:178733091..178733955-chr3:179038794..179040035,7	MCF-7	breast:
9	chr3:178732951..178734901-chr3:178785761..178787497,2	K562	blood:
10	chr3:178733027..178734649-chr3:178978479..178979997,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240429	Chromatin interaction
ENSG00000121864	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1009143	chr3:178731525-178783915	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178708800-178737800	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:178716400-178755000	Weak transcription	Pancreas	Pancrea
3	chr3:178717400-178744400	Weak transcription	HMEC	breast
4	chr3:178719200-178737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:178720400-178734200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:178720600-178737600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:178721400-178737800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:178721400-178738000	Weak transcription	Aorta	Aorta
9	chr3:178722200-178751600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:178723000-178733600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:178723400-178749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:178723800-178754200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:178727800-178738000	Weak transcription	Fetal Heart	heart
14	chr3:178731200-178735200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:178731400-178744400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:178731600-178733200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:178731600-178733200	Weak transcription	GM12878-XiMat	blood
18	chr3:178731600-178733200	Weak transcription	HSMMtube	muscle
19	chr3:178732000-178733200	Strong transcription	HSMM	muscle
20	chr3:178732600-178744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:178732800-178738000	Weak transcription	Fetal Thymus	thymus
22	chr3:178733000-178733200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:178733000-178733800	Enhancers	Dnd41	blood
24	chr3:178733000-178734200	Enhancers	Primary T cells from cord blood	blood
25	chr3:178733000-178735400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:178733000-178735600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:178733000-178738600	Weak transcription	NH-A	brain

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