Variant report

Variant	rs12325839
Chromosome Location	chr17:59399381-59399382
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	chr17:59398180..59400380-chr20:49411517..49413726,2	MCF-7	breast:
2	chr17:59396556..59399639-chr20:49409636..49411808,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61309636	1.00[AMR][1000 genomes]
rs73991914	1.00[AMR][1000 genomes]
rs73991916	1.00[AMR][1000 genomes]
rs73991917	1.00[AMR][1000 genomes]
rs73991918	1.00[AMR][1000 genomes]
rs9900411	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	nsv1065939	chr17:59283350-59517730	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	331 gene(s)	inside rSNPs	diseases
2	nsv833505	chr17:59323466-59518007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	326 gene(s)	inside rSNPs	diseases
3	nsv833506	chr17:59362377-59562984	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59388800-59444200	Weak transcription	Primary T cells from cord blood	blood
2	chr17:59389600-59412400	Weak transcription	Gastric	stomach
3	chr17:59391400-59412400	Weak transcription	Pancreas	Pancrea
4	chr17:59391600-59402600	Weak transcription	Aorta	Aorta
5	chr17:59391800-59409200	Weak transcription	Esophagus	oesophagus
6	chr17:59392000-59402600	Weak transcription	Colonic Mucosa	Colon
7	chr17:59392200-59400600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr17:59392400-59400600	Weak transcription	NH-A	brain
9	chr17:59392400-59401400	Weak transcription	Hela-S3	cervix
10	chr17:59392600-59401000	Weak transcription	Fetal Heart	heart
11	chr17:59393200-59401000	Weak transcription	Lung	lung
12	chr17:59393200-59401000	Weak transcription	Right Atrium	heart
13	chr17:59393200-59401000	Weak transcription	Right Ventricle	heart
14	chr17:59393400-59399800	Weak transcription	NHLF	lung
15	chr17:59393400-59401000	Weak transcription	Left Ventricle	heart
16	chr17:59395400-59399800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr17:59395400-59400600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:59395600-59400800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:59396000-59401000	Weak transcription	Psoas Muscle	Psoas
20	chr17:59396400-59399600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:59396400-59401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:59396400-59402600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:59396600-59399600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr17:59396600-59399600	Weak transcription	Fetal Lung	lung
25	chr17:59396600-59400400	Weak transcription	Fetal Kidney	kidney
26	chr17:59396600-59402400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:59397200-59400800	Weak transcription	HepG2	liver
28	chr17:59398600-59399400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr17:59398600-59399800	Enhancers	Brain Anterior Caudate	brain
30	chr17:59398600-59401000	Enhancers	Brain Hippocampus Middle	brain
31	chr17:59398600-59402600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:59398800-59399400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:59398800-59400000	Enhancers	Brain Substantia Nigra	brain
34	chr17:59398800-59402200	Enhancers	Ovary	ovary
35	chr17:59399000-59399800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:59399000-59400600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr17:59399000-59400600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:59399000-59400600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr17:59399000-59401000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr17:59399000-59401000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:59399000-59401000	Enhancers	Brain Cingulate Gyrus	brain
42	chr17:59399000-59401400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr17:59399200-59400400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:59399200-59400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:59399200-59401000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:59399200-59401000	Weak transcription	Spleen	Spleen
47	chr17:59399200-59404000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:59399200-59404000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:59399200-59409600	Weak transcription	Brain Angular Gyrus	brain

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