Variant report

Variant	rs529578657
Chromosome Location	chr7:5233181-5233182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5229879..5231449-chr7:5231595..5233756,2	K562	blood:
2	chr7:5229632..5232075-chr7:5232992..5235509,2	MCF-7	breast:
3	chr7:5231544..5233195-chr7:5257262..5260176,2	MCF-7	breast:
4	chr7:5233147..5235826-chr7:5241564..5244275,2	K562	blood:
5	chr7:5232342..5242315-chr7:5249039..5255391,10	K562	blood:
6	chr7:5231668..5234490-chr7:5251463..5254091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157954	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
5	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS 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	19 gene(s)	inside rSNPs	diseases
7	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
8	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
9	nsv1015639	chr7:5209510-5255399	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv887390	chr7:5224407-5411296	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
12	nsv823995	chr7:5232621-5233294	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5230600-5233200	Weak transcription	Aorta	Aorta
2	chr7:5231200-5233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:5231200-5239400	Weak transcription	A549	lung
4	chr7:5231200-5240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:5231200-5249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5231200-5254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:5231400-5233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:5231400-5233200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:5231400-5233200	Weak transcription	Esophagus	oesophagus
10	chr7:5231400-5247000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr7:5231400-5253800	Weak transcription	Fetal Kidney	kidney
12	chr7:5231400-5279800	Weak transcription	Fetal Brain Male	brain
13	chr7:5231600-5233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:5231600-5233200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:5231600-5233200	Weak transcription	Fetal Stomach	stomach
16	chr7:5231600-5233200	Weak transcription	Left Ventricle	heart
17	chr7:5231600-5233200	Weak transcription	Lung	lung
18	chr7:5231600-5233200	Weak transcription	Ovary	ovary
19	chr7:5231600-5233400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:5231600-5233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:5231600-5233600	Weak transcription	Pancreas	Pancrea
22	chr7:5231600-5236000	Weak transcription	Fetal Heart	heart
23	chr7:5231600-5238400	Weak transcription	K562	blood
24	chr7:5231600-5239200	Weak transcription	Colonic Mucosa	Colon
25	chr7:5231600-5239400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:5231600-5239800	Weak transcription	Fetal Brain Female	brain
27	chr7:5231600-5240000	Weak transcription	Psoas Muscle	Psoas
28	chr7:5231600-5252600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:5231800-5233200	Weak transcription	Brain Anterior Caudate	brain
30	chr7:5231800-5233400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:5231800-5233400	Weak transcription	Brain Substantia Nigra	brain
32	chr7:5231800-5234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:5231800-5234800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr7:5231800-5234800	Strong transcription	HUVEC	blood vessel
35	chr7:5231800-5235000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:5231800-5235000	Strong transcription	Fetal Thymus	thymus
37	chr7:5231800-5235000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:5231800-5235600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:5231800-5236600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:5231800-5239400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:5231800-5241600	Weak transcription	HMEC	breast
42	chr7:5231800-5245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:5231800-5249800	Weak transcription	Brain Angular Gyrus	brain
44	chr7:5231800-5254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:5231800-5273400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:5232000-5233200	Weak transcription	Brain Germinal Matrix	brain
47	chr7:5232000-5233200	Weak transcription	Thymus	Thymus
48	chr7:5232000-5233200	Active TSS	GM12878-XiMat	blood
49	chr7:5232000-5233200	Weak transcription	NHDF-Ad	bronchial
50	chr7:5232000-5233400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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