Variant report

Variant	rs17125324
Chromosome Location	chr1:85764492-85764493
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85749046..85750633-chr1:85762550..85764721,2	K562	blood:
2	chr1:85763329..85765348-chr1:86045622..86047839,3	MCF-7	breast:
3	chr1:85763770..85765499-chr1:85767346..85769408,2	MCF-7	breast:
4	chr1:85764436..85767299-chr1:86046418..86049258,3	MCF-7	breast:
5	chr1:85740595..85746052-chr1:85759606..85765261,11	MCF-7	breast:
6	chr1:85743301..85744936-chr1:85762613..85765116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142867	Chromatin interaction
ENSG00000223653	Chromatin interaction
ENSG00000264380	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11810166	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs59671078	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
2	chr1:85759600-85765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:85762600-85764600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:85762600-85764600	Enhancers	Stomach Mucosa	stomach
5	chr1:85762800-85764600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:85762800-85764600	Enhancers	Aorta	Aorta
7	chr1:85762800-85764600	Enhancers	Esophagus	oesophagus
8	chr1:85762800-85764600	Enhancers	Fetal Thymus	thymus
9	chr1:85762800-85764600	Enhancers	Pancreas	Pancrea
10	chr1:85762800-85765400	Enhancers	HSMMtube	muscle
11	chr1:85762800-85765600	Enhancers	Lung	lung
12	chr1:85763000-85764600	Enhancers	Placenta	Placenta
13	chr1:85763000-85764800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:85763000-85765000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:85763000-85765000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:85763000-85765000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:85763000-85765000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:85763000-85765200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:85763200-85764800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:85763200-85764800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:85763200-85765000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:85763400-85764600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:85763400-85764800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:85763400-85765400	Enhancers	Dnd41	blood
25	chr1:85763600-85764600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:85763800-85764600	Enhancers	Primary B cells from cord blood	blood
27	chr1:85763800-85764800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:85763800-85764800	Enhancers	Fetal Intestine Large	intestine
29	chr1:85763800-85764800	Enhancers	Fetal Intestine Small	intestine
30	chr1:85763800-85764800	Enhancers	Left Ventricle	heart
31	chr1:85763800-85765600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:85764000-85764600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:85764000-85764600	Enhancers	Brain Angular Gyrus	brain
34	chr1:85764000-85764600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:85764000-85764600	Enhancers	NHLF	lung
36	chr1:85764000-85765000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:85764000-85765200	Enhancers	HMEC	breast
38	chr1:85764000-85765400	Enhancers	NH-A	brain
39	chr1:85764200-85764600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:85764200-85764600	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:85764200-85764600	Enhancers	A549	lung
42	chr1:85764200-85764600	Flanking Active TSS	HSMM	muscle
43	chr1:85764200-85764800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:85764200-85764800	Enhancers	Adipose Nuclei	Adipose
45	chr1:85764200-85764800	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:85764200-85764800	Enhancers	NHDF-Ad	bronchial
47	chr1:85764200-85765000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:85764200-85765000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:85764200-85765000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:85764200-85765400	Enhancers	NHEK	skin

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