Variant report

Variant	rs189438351
Chromosome Location	chr7:65337503-65337504
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	MXI1	chr7:65337260-65339476	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65214366..65217502-chr7:65337041..65339664,3	MCF-7	breast:
2	chr7:64498619..64500351-chr7:65337220..65338727,3	MCF-7	breast:

Variant related genes	Relation type
VKORC1L1	TF binding region
ENSG00000239985	Chromatin interaction
ENSG00000228409	Chromatin interaction
ENSG00000234585	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv2764020	chr7:64594065-65351820	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv1025207	chr7:65092426-65339879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1033400	chr7:65092426-65339879	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv1020622	chr7:65161364-65339879	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	esv1815526	chr7:65286678-65338375	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1029800	chr7:65309327-65367692	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv3427026	chr7:65336942-65339890	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3414148	chr7:65337017-65339740	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65330800-65338200	Weak transcription	Right Atrium	heart
2	chr7:65334600-65338400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:65334800-65337800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:65334800-65338200	Weak transcription	NHLF	lung
5	chr7:65335800-65337600	Enhancers	Adipose Nuclei	Adipose
6	chr7:65335800-65338000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:65335800-65338000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:65336000-65338400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:65336200-65338000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:65336600-65337600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:65336600-65337600	Enhancers	NHDF-Ad	bronchial
12	chr7:65336600-65337800	Enhancers	GM12878-XiMat	blood
13	chr7:65336600-65338000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:65336600-65338200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:65336800-65338200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:65337000-65337600	Weak transcription	HUVEC	blood vessel
17	chr7:65337200-65337600	Enhancers	K562	blood
18	chr7:65337400-65337600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:65337400-65337600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:65337400-65337600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:65337400-65337600	Enhancers	Left Ventricle	heart
22	chr7:65337400-65337600	Enhancers	Thymus	Thymus
23	chr7:65337400-65337600	Enhancers	Dnd41	blood
24	chr7:65337400-65337600	Enhancers	HepG2	liver
25	chr7:65337400-65337600	Weak transcription	HSMMtube	muscle
26	chr7:65337400-65337600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:65337400-65337800	Enhancers	Placenta	Placenta
28	chr7:65337400-65337800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:65337400-65337800	Enhancers	NHEK	skin
30	chr7:65337400-65338000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:65337400-65338000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:65337400-65338000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:65337400-65338000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:65337400-65338000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:65337400-65338000	Enhancers	Fetal Muscle Leg	muscle
36	chr7:65337400-65338000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:65337400-65338200	Enhancers	Primary T cells fromperipheralblood	blood
38	chr7:65337400-65339200	Active TSS	Hela-S3	cervix
39	chr7:65337400-65339600	Active TSS	A549	lung

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