Variant report

Variant	rs6768571
Chromosome Location	chr3:147016796-147016797
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	chr3:147013273..147015507-chr3:147016010..147018534,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10935664	0.80[AMR][1000 genomes]
rs11716981	1.00[JPT][hapmap]
rs13079809	1.00[JPT][hapmap]
rs13085221	1.00[JPT][hapmap]
rs13085931	1.00[JPT][hapmap]
rs1503731	1.00[JPT][hapmap]
rs34402204	0.80[AMR][1000 genomes]
rs4368473	1.00[JPT][hapmap]
rs6764783	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6764869	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9289746	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9828798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385588	chr3:146782324-147083081	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv877628	chr3:146964828-147058367	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	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
4	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6768571	ZIC4	cis	cerebellum	SCAN
rs6768571	MBNL1	cis	cerebellum	SCAN
rs6768571	WWTR1	cis	cerebellum	SCAN
rs6768571	CLRN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:147015600-147016800	Enhancers	Brain Germinal Matrix	brain
2	chr3:147015600-147017000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:147015600-147017200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:147015600-147017200	Enhancers	NHLF	lung
5	chr3:147015600-147017600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:147015600-147017800	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:147015600-147018000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:147015800-147016800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:147015800-147016800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:147015800-147016800	Enhancers	Fetal Stomach	stomach
11	chr3:147015800-147017000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:147015800-147017600	Enhancers	Colon Smooth Muscle	Colon
13	chr3:147015800-147017800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:147015800-147017800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:147015800-147018400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:147016000-147016800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:147016000-147016800	Enhancers	HUVEC	blood vessel
18	chr3:147016000-147017000	Enhancers	Fetal Brain Male	brain
19	chr3:147016200-147016800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:147016200-147016800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:147016200-147016800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:147016200-147016800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:147016200-147016800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:147016200-147016800	Flanking Active TSS	Fetal Lung	lung
25	chr3:147016200-147016800	Enhancers	Fetal Muscle Leg	muscle
26	chr3:147016200-147016800	Enhancers	Ovary	ovary
27	chr3:147016200-147017000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:147016400-147016800	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr3:147016400-147016800	Active TSS	NH-A	brain
30	chr3:147016400-147017200	Enhancers	Osteobl	bone
31	chr3:147016400-147018000	Enhancers	NHDF-Ad	bronchial
32	chr3:147016400-147018400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:147016600-147017000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:147016600-147017800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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