Variant report

Variant	rs565575406
Chromosome Location	chr1:225669788-225669789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225660270..225662835-chr1:225667398..225670221,2	MCF-7	breast:
2	chr1:225667455..225673405-chr1:225674170..225678275,6	MCF-7	breast:
3	chr1:225667880..225669928-chr1:225980112..225982880,2	K562	blood:
4	chr1:225668772..225671386-chr1:225671515..225673412,2	K562	blood:
5	chr1:225668021..225670369-chr1:226148124..226150238,2	MCF-7	breast:
6	chr1:225668756..225671445-chr1:225674981..225676551,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873227	chr1:225656388-225687981	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv8880	chr1:225656408-225687710	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv826842	chr1:225658062-225686586	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv441740	chr1:225659217-225684196	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv433350	chr1:225665284-225686025	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873228	chr1:225665284-225687981	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	esv2753202	chr1:225665694-225676571	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a
11	esv2756886	chr1:225665694-225703485	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	esv2759003	chr1:225665694-225703485	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv873229	chr1:225668031-225685928	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv873230	chr1:225668524-225687981	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
2	chr1:225662200-225671800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:225662600-225671800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:225663200-225669800	Weak transcription	Ovary	ovary
5	chr1:225663200-225670200	Weak transcription	Osteobl	bone
6	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:225663400-225686000	Weak transcription	A549	lung
10	chr1:225664000-225670000	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:225665200-225670400	Enhancers	Primary B cells from cord blood	blood
12	chr1:225666000-225669800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
14	chr1:225667400-225670200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:225667400-225670200	Weak transcription	Aorta	Aorta
16	chr1:225667400-225684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:225668400-225670800	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:225668600-225669800	Enhancers	Pancreas	Pancrea
19	chr1:225668600-225669800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:225668600-225670400	Enhancers	Fetal Intestine Large	intestine
21	chr1:225668800-225669800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:225668800-225670000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:225668800-225670200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:225668800-225670200	Enhancers	Brain Germinal Matrix	brain
25	chr1:225668800-225670800	Enhancers	Fetal Lung	lung
26	chr1:225668800-225672200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:225668800-225672400	Enhancers	Colon Smooth Muscle	Colon
28	chr1:225669000-225670600	Enhancers	Fetal Intestine Small	intestine
29	chr1:225669000-225672200	Weak transcription	Fetal Thymus	thymus
30	chr1:225669000-225687800	Weak transcription	Placenta	Placenta
31	chr1:225669200-225670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:225669200-225671800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:225669200-225673600	Enhancers	Fetal Muscle Leg	muscle
34	chr1:225669600-225669800	Flanking Active TSS	Fetal Brain Male	brain
35	chr1:225669600-225670200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:225669600-225670200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:225669600-225670200	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:225669600-225670200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:225669600-225670200	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:225669600-225670200	Bivalent Enhancer	NHLF	lung
41	chr1:225669600-225670400	Flanking Active TSS	Fetal Brain Female	brain
42	chr1:225669600-225670600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:225669600-225670800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:225669600-225670800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
45	chr1:225669600-225670800	Enhancers	Brain Hippocampus Middle	brain
46	chr1:225669600-225671000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:225669600-225672400	Enhancers	Rectal Smooth Muscle	rectum

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