Variant report

Variant	rs2577133
Chromosome Location	chr1:220262123-220262124
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220218041..220222902-chr1:220260521..220263017,5	K562	blood:
2	chr1:220260533..220264899-chr1:220265232..220269626,12	MCF-7	breast:
3	chr1:220218169..220221765-chr1:220261064..220269153,11	MCF-7	breast:
4	chr1:220186134..220187962-chr1:220260106..220262494,2	K562	blood:
5	chr1:220261171..220264758-chr1:220266195..220270505,9	MCF-7	breast:
6	chr1:220218207..220221672-chr1:220261461..220265020,3	K562	blood:

Variant related genes	Relation type
ENSG00000067704	Chromatin interaction
ENSG00000136628	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12044558	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2004080	0.80[EUR][1000 genomes]
rs2647466	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789788	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789789	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
2	chr1:220220600-220262400	Weak transcription	NHLF	lung
3	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
4	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
6	chr1:220238200-220262800	Weak transcription	Gastric	stomach
7	chr1:220239600-220262400	Weak transcription	Right Ventricle	heart
8	chr1:220241200-220262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:220241200-220262400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:220241400-220262400	Weak transcription	NHEK	skin
11	chr1:220242600-220262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:220243800-220262400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:220246400-220262400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:220246400-220262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:220246400-220262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:220246400-220262400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:220246400-220262400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:220246400-220262400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:220246400-220262400	Weak transcription	Fetal Brain Female	brain
20	chr1:220246600-220262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:220246600-220262400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:220246600-220262400	Weak transcription	Colonic Mucosa	Colon
23	chr1:220246800-220262400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:220246800-220262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:220246800-220262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:220246800-220262400	Weak transcription	Fetal Heart	heart
27	chr1:220246800-220262400	Weak transcription	Thymus	Thymus
28	chr1:220247000-220262400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:220247000-220262400	Weak transcription	Aorta	Aorta
30	chr1:220247000-220262400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:220247000-220262400	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:220247000-220262800	Weak transcription	Lung	lung
33	chr1:220247200-220262400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:220247400-220262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:220247400-220262400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:220247400-220262400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:220247400-220262400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:220247400-220262400	Weak transcription	NH-A	brain
39	chr1:220247600-220262400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:220247600-220262400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:220248600-220262400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:220248800-220262400	Weak transcription	Placenta	Placenta
43	chr1:220249200-220262400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:220250800-220262400	Weak transcription	Osteobl	bone
45	chr1:220251600-220262400	Weak transcription	Fetal Thymus	thymus
46	chr1:220252200-220262400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:220252200-220262800	Weak transcription	Left Ventricle	heart
48	chr1:220252200-220262800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:220252600-220262400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:220253200-220262400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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