Variant report

Variant	rs2525089
Chromosome Location	chr17:46063524-46063525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46028612..46030985-chr17:46062999..46064940,2	MCF-7	breast:
2	chr17:46062866..46064807-chr17:46085131..46087334,2	MCF-7	breast:
3	chr17:46059948..46063060-chr17:46063175..46066138,4	MCF-7	breast:
4	chr17:46062331..46065308-chr17:46079122..46082112,2	K562	blood:
5	chr17:46047143..46050163-chr17:46062880..46067847,6	MCF-7	breast:
6	chr17:46059865..46061717-chr17:46063064..46066103,3	MCF-7	breast:
7	chr17:46062331..46065040-chr17:46080612..46082593,2	K562	blood:

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2525099	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2525100	1.00[ASN][1000 genomes]
rs2597167	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2597176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923063	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56947799	1.00[ASN][1000 genomes]
rs60163848	1.00[ASN][1000 genomes]
rs61521088	1.00[ASN][1000 genomes]
rs73321620	1.00[ASN][1000 genomes]
rs73321625	1.00[ASN][1000 genomes]
rs73321628	1.00[ASN][1000 genomes]
rs73321689	1.00[ASN][1000 genomes]
rs73985431	1.00[ASN][1000 genomes]
rs73985445	1.00[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46056200-46064000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:46057000-46064000	Weak transcription	Fetal Brain Male	brain
4	chr17:46058200-46064400	Weak transcription	Fetal Kidney	kidney
5	chr17:46059000-46064600	Weak transcription	NHDF-Ad	bronchial
6	chr17:46059400-46064000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:46059400-46064600	Weak transcription	HUVEC	blood vessel
8	chr17:46059400-46064800	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:46059600-46064600	Weak transcription	Psoas Muscle	Psoas
10	chr17:46060400-46063600	Weak transcription	Colonic Mucosa	Colon
11	chr17:46060400-46064600	Weak transcription	Fetal Lung	lung
12	chr17:46060400-46065200	Weak transcription	Osteobl	bone
13	chr17:46060600-46063600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:46060600-46063800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:46060600-46064000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:46060600-46064000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:46060800-46064800	Weak transcription	Lung	lung
18	chr17:46060800-46064800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:46061000-46063800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr17:46061000-46064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:46061000-46064400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:46061000-46064400	Weak transcription	Stomach Mucosa	stomach
23	chr17:46061000-46064600	Weak transcription	Esophagus	oesophagus
24	chr17:46061000-46064800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:46061000-46064800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:46061000-46065200	Weak transcription	Brain Substantia Nigra	brain
27	chr17:46061200-46063800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:46061200-46064000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:46061200-46064600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr17:46061200-46064600	Weak transcription	Brain Germinal Matrix	brain
31	chr17:46061200-46064600	Weak transcription	Fetal Heart	heart
32	chr17:46061200-46064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:46061400-46064200	Weak transcription	HSMMtube	muscle
34	chr17:46061400-46064400	Weak transcription	HepG2	liver
35	chr17:46061400-46064600	Weak transcription	HSMM	muscle
36	chr17:46061600-46063600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:46061600-46064000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr17:46061600-46064000	Weak transcription	Adipose Nuclei	Adipose
39	chr17:46061600-46064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:46061600-46064600	Weak transcription	Gastric	stomach
41	chr17:46061600-46069200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr17:46061800-46063600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:46061800-46063800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:46061800-46063800	Weak transcription	Dnd41	blood
45	chr17:46061800-46064000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:46061800-46064000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:46061800-46064000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:46061800-46064400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:46061800-46064400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:46061800-46064400	Weak transcription	Fetal Brain Female	brain

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