Variant report

Variant	rs6797793
Chromosome Location	chr3:147087164-147087165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:147086636..147088496-chr3:147103699..147105642,2	K562	blood:

Variant related genes	Relation type
ENSG00000241202	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1503732	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1503733	0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs1503737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1910466	0.84[ASN][1000 genomes]
rs28541581	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013080	chr3:147008962-147167690	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536763	chr3:147008962-147167690	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6797793	ZIC1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:147085200-147089200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
2	chr3:147085400-147087800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
3	chr3:147085400-147088400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr3:147085400-147091600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:147085600-147087200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr3:147086000-147091400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr3:147086400-147088200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:147086400-147088400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr3:147086600-147087400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:147086600-147089000	Bivalent/Poised TSS	NH-A	brain
11	chr3:147086800-147088400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:147086800-147088800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:147087000-147087200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr3:147087000-147087200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:147087000-147087200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr3:147087000-147087200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:147087000-147087600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:147087000-147088200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr3:147087000-147088400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:147087000-147088600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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