Variant report

Variant	rs1217402
Chromosome Location	chr1:114440258-114440259
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114439933..114443921-chr1:114470851..114474658,5	K562	blood:
2	chr1:114417201..114419873-chr1:114437424..114440357,2	MCF-7	breast:
3	chr1:114439446..114441389-chr1:115052743..115054998,2	MCF-7	breast:
4	chr1:114429070..114435293-chr1:114435414..114441720,10	MCF-7	breast:
5	chr1:114353164..114356409-chr1:114439569..114442509,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197323	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000188761	Chromatin interaction
ENSG00000235527	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1217394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217422	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230715	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1539438	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2018365	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2476594	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2488456	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114420200-114446400	Weak transcription	Aorta	Aorta
3	chr1:114424600-114442400	Weak transcription	Psoas Muscle	Psoas
4	chr1:114430000-114442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:114431800-114445400	Weak transcription	Stomach Mucosa	stomach
6	chr1:114434800-114440400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:114434800-114446200	Weak transcription	Fetal Heart	heart
8	chr1:114435600-114446200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:114435600-114446400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:114435800-114440400	Weak transcription	Fetal Kidney	kidney
11	chr1:114435800-114444400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:114436000-114444600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:114436000-114446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:114436200-114441000	Strong transcription	Ovary	ovary
15	chr1:114436200-114442200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:114436200-114444600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:114436200-114444600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:114436200-114445200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:114436200-114446600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:114436200-114446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:114436400-114440600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:114436400-114441000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr1:114436400-114442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:114436400-114443800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:114436400-114444200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:114436400-114444600	Strong transcription	Primary T cells from cord blood	blood
27	chr1:114436400-114445000	Strong transcription	Liver	Liver
28	chr1:114436400-114445200	Strong transcription	Brain Anterior Caudate	brain
29	chr1:114436400-114445600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:114436600-114440800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:114436600-114441400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:114436600-114441600	Strong transcription	Adipose Nuclei	Adipose
33	chr1:114436600-114444600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:114436600-114445600	Strong transcription	Fetal Thymus	thymus
35	chr1:114436800-114440800	Strong transcription	Fetal Brain Female	brain
36	chr1:114436800-114441400	Strong transcription	HSMM	muscle
37	chr1:114436800-114441800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:114436800-114443800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:114436800-114444400	Strong transcription	Dnd41	blood
40	chr1:114436800-114445200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:114436800-114445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:114436800-114445600	Strong transcription	Osteobl	bone
43	chr1:114436800-114446400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:114437000-114440800	Strong transcription	Primary B cells from cord blood	blood
45	chr1:114437000-114441200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:114437000-114441800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:114437000-114444600	Strong transcription	Thymus	Thymus
48	chr1:114437000-114445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:114437000-114445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:114437000-114445600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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