Variant report

Variant	rs465947
Chromosome Location	chr5:7815237-7815238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7815132..7817938-chr5:7825115..7826911,2	K562	blood:
2	chr5:7775938..7777683-chr5:7815092..7817097,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10475395	0.91[JPT][hapmap]
rs191261	0.90[JPT][hapmap]
rs326171	0.90[JPT][hapmap]
rs326173	0.90[JPT][hapmap]
rs326174	0.90[JPT][hapmap]
rs7720534	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1024268	chr5:7707047-7821303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7780200-7816400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:7795400-7816200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:7795800-7819800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:7797000-7816400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:7803400-7816000	Weak transcription	Brain Anterior Caudate	brain
6	chr5:7803800-7824800	Weak transcription	Aorta	Aorta
7	chr5:7805000-7815800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:7806000-7823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:7808000-7815400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:7808200-7816000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:7808400-7827000	Weak transcription	Brain Substantia Nigra	brain
12	chr5:7809000-7816000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:7809000-7816800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:7812200-7816000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:7812600-7816200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:7813800-7816200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:7814400-7815400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:7814400-7816000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:7814600-7815800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:7814600-7815800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:7814600-7816800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:7814800-7816600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:7814800-7816800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:7814800-7817000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:7814800-7817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:7815000-7815800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:7815000-7816000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:7815000-7817200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:7815000-7817400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:7815200-7815400	ZNF genes & repeats	Right Atrium	heart
31	chr5:7815200-7816200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:7815200-7816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:7815200-7816800	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:7815200-7817400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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