Variant report

Variant	rs563221618
Chromosome Location	chr1:225668241-225668242
allele	A/G
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	chr1:225631906..225634098-chr1:225666664..225668819,2	K562	blood:
3	chr1:225667455..225673405-chr1:225674170..225678275,6	MCF-7	breast:
4	chr1:225667880..225669928-chr1:225980112..225982880,2	K562	blood:
5	chr1:225668021..225670369-chr1:226148124..226150238,2	MCF-7	breast:
6	chr1:225666757..225668833-chr1:226110294..226111958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:41 , 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	chr1:225663200-225668600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:225663200-225668600	Weak transcription	Pancreas	Pancrea
6	chr1:225663200-225668600	Weak transcription	Stomach Mucosa	stomach
7	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:225663200-225668800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:225663200-225669800	Weak transcription	Ovary	ovary
10	chr1:225663200-225670200	Weak transcription	Osteobl	bone
11	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:225663400-225668400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:225663400-225668800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:225663400-225668800	Weak transcription	Fetal Brain Female	brain
17	chr1:225663400-225668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:225663400-225669000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:225663400-225669600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:225663400-225686000	Weak transcription	A549	lung
21	chr1:225664000-225670000	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:225665200-225670400	Enhancers	Primary B cells from cord blood	blood
23	chr1:225665800-225668400	Weak transcription	Placenta	Placenta
24	chr1:225665800-225668800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:225666000-225668600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:225666000-225669800	Weak transcription	Brain Anterior Caudate	brain
27	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
28	chr1:225666200-225668600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:225666200-225668600	Weak transcription	Fetal Thymus	thymus
30	chr1:225667200-225668800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:225667400-225668800	Enhancers	Fetal Brain Male	brain
32	chr1:225667400-225670200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:225667400-225670200	Weak transcription	Aorta	Aorta
34	chr1:225667400-225684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:225668000-225668800	Weak transcription	Fetal Lung	lung
36	chr1:225668000-225668800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr1:225668000-225669200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:225668000-225669200	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr1:225668000-225669200	Enhancers	Spleen	Spleen
40	chr1:225668000-225669200	Enhancers	GM12878-XiMat	blood
41	chr1:225668200-225669200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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