Variant report

Variant	rs17102179
Chromosome Location	chr1:46860557-46860558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46859846..46861376-chr1:46873214..46876105,2	MCF-7	breast:
2	chr1:46851709..46853903-chr1:46860122..46862879,2	K562	blood:

Variant related genes	Relation type
ENSG00000117480	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17102066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28363193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59006610	1.00[AMR][1000 genomes]
rs60411062	1.00[AMR][1000 genomes]

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	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv546162	chr1:46807597-46870761	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
6	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46858400-46860800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:46859200-46860800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:46859200-46861200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:46859400-46860600	Active TSS	Brain Angular Gyrus	brain
5	chr1:46859400-46861000	Active TSS	Brain Hippocampus Middle	brain
6	chr1:46859600-46860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:46859600-46860600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:46859600-46860600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:46859600-46860600	Active TSS	Brain Substantia Nigra	brain
10	chr1:46859600-46860600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr1:46859600-46860600	Active TSS	Thymus	Thymus
12	chr1:46859600-46860800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:46859600-46860800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:46859600-46860800	Active TSS	Brain Anterior Caudate	brain
15	chr1:46859600-46860800	Active TSS	Brain Cingulate Gyrus	brain
16	chr1:46859600-46860800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:46859600-46860800	Active TSS	Duodenum Mucosa	Duodenum
18	chr1:46859600-46860800	Active TSS	Psoas Muscle	Psoas
19	chr1:46859600-46860800	Active TSS	Right Atrium	heart
20	chr1:46859800-46860600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:46859800-46860600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:46859800-46860600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:46859800-46860600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:46859800-46860600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:46859800-46860600	Active TSS	Aorta	Aorta
26	chr1:46859800-46860600	Active TSS	Fetal Intestine Small	intestine
27	chr1:46859800-46860600	Flanking Active TSS	Left Ventricle	heart
28	chr1:46859800-46860600	Flanking Active TSS	Lung	lung
29	chr1:46859800-46860600	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr1:46859800-46860600	Bivalent/Poised TSS	HSMMtube	muscle
31	chr1:46859800-46860800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:46859800-46860800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:46859800-46860800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:46859800-46861000	Active TSS	Brain Germinal Matrix	brain
35	chr1:46859800-46861000	Active TSS	Gastric	stomach
36	chr1:46859800-46861200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:46859800-46861200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:46859800-46861400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr1:46860000-46860600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:46860000-46860600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr1:46860000-46860600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:46860000-46860600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr1:46860000-46860600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:46860000-46860600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
45	chr1:46860000-46860600	Active TSS	Ovary	ovary
46	chr1:46860000-46860600	Active TSS	Placenta Amnion	Placenta Amnion
47	chr1:46860000-46860600	Active TSS	Small Intestine	intestine
48	chr1:46860000-46860600	Bivalent/Poised TSS	NHLF	lung
49	chr1:46860000-46860800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:46860000-46860800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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