Variant report

Variant	rs558465262
Chromosome Location	chr1:247491449-247491450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247456296..247458047-chr1:247490288..247491803,2	K562	blood:
2	chr1:247367024..247369929-chr1:247491044..247493190,2	MCF-7	breast:
3	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:

Variant related genes	Relation type
ENSG00000252516	Chromatin interaction
ENSG00000162714	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	esv1848384	chr1:247485654-247495666	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
7	esv1811709	chr1:247491143-247495666	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
8	esv1840501	chr1:247491143-247495666	Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
3	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
9	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
11	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
13	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
15	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
16	chr1:247476600-247494000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:247479800-247493000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:247480000-247493600	Weak transcription	NHDF-Ad	bronchial
19	chr1:247482000-247492600	Strong transcription	Liver	Liver
20	chr1:247482400-247493600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:247482600-247493400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:247482600-247493400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:247482800-247492400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:247482800-247493400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:247482800-247493400	Strong transcription	A549	lung
26	chr1:247482800-247493600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:247483000-247493200	Strong transcription	Brain Germinal Matrix	brain
28	chr1:247483000-247493200	Strong transcription	Fetal Brain Female	brain
29	chr1:247483400-247493000	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:247483400-247493200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:247484600-247493400	Weak transcription	Ovary	ovary
32	chr1:247486000-247491800	Weak transcription	Pancreas	Pancrea
33	chr1:247486400-247491800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:247486400-247491800	Weak transcription	Esophagus	oesophagus
35	chr1:247486400-247493400	Strong transcription	NH-A	brain
36	chr1:247486600-247491600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:247486600-247491800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:247486600-247491800	Weak transcription	Spleen	Spleen
39	chr1:247486800-247491600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:247486800-247491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:247486800-247491600	Weak transcription	Right Ventricle	heart
42	chr1:247486800-247493400	Weak transcription	Primary B cells from cord blood	blood
43	chr1:247487000-247491600	Enhancers	Primary T cells from cord blood	blood
44	chr1:247487000-247491600	Weak transcription	Adipose Nuclei	Adipose
45	chr1:247487000-247493400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:247487200-247491600	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:247487200-247493400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:247487600-247493400	Strong transcription	K562	blood
49	chr1:247487800-247491600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:247488200-247493400	Strong transcription	Brain Hippocampus Middle	brain

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