Variant report

Variant	rs1317477
Chromosome Location	chr4:79144309-79144310
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	chr4:79143866..79146531-chr4:79146925..79148583,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11727545	0.80[EUR][1000 genomes]
rs1823921	0.80[EUR][1000 genomes]
rs6853099	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv999844	chr4:79092549-79165869	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv879503	chr4:79108589-79163162	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1317477	THAP6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79141400-79144400	Weak transcription	Fetal Heart	heart
2	chr4:79141600-79148400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:79142600-79145000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:79142800-79144600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr4:79142800-79144600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:79142800-79144600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:79142800-79144600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:79142800-79144600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:79142800-79145400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:79143000-79144400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:79143000-79144800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:79143200-79144400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:79143200-79144600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:79143200-79144600	Enhancers	Fetal Thymus	thymus
15	chr4:79143200-79146000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:79143400-79144400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:79143400-79144600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:79143600-79144400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:79143600-79144400	Bivalent Enhancer	Fetal Brain Female	brain
20	chr4:79143800-79144400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:79143800-79144400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:79143800-79144400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:79143800-79144400	Enhancers	Brain Germinal Matrix	brain
24	chr4:79143800-79144400	Enhancers	HepG2	liver
25	chr4:79144000-79144400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:79144000-79144400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr4:79144000-79144400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:79144200-79144400	Enhancers	Brain Anterior Caudate	brain
29	chr4:79144200-79144400	Bivalent Enhancer	Fetal Brain Male	brain
30	chr4:79144200-79144600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:79144200-79144600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:79144200-79144600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:79144200-79144800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:79144200-79176000	Weak transcription	Psoas Muscle	Psoas

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