Variant report

Variant	rs7284814
Chromosome Location	chr22:28583738-28583739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1303845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs134172	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134179	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134180	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134183	0.95[CEU][hapmap]
rs134188	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134196	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs134489	0.88[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs134500	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs134507	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs138683	1.00[YRI][hapmap]
rs2223370	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4822952	0.86[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4822954	0.82[EUR][1000 genomes]
rs715517	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8138645	0.88[ASN][1000 genomes]
rs8140229	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7284814	TTC28	cis	cerebellum	SCAN
rs7284814	TTC28	cis	lymphoblastoid	seeQTL
rs7284814	SEC14L4	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28572200-28597800	Weak transcription	Dnd41	blood
2	chr22:28577000-28603600	Weak transcription	Aorta	Aorta
3	chr22:28577400-28584600	Weak transcription	Fetal Brain Female	brain
4	chr22:28577800-28600400	Weak transcription	Right Atrium	heart
5	chr22:28578400-28583800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:28579600-28584600	Weak transcription	Psoas Muscle	Psoas
7	chr22:28579600-28587400	Weak transcription	Lung	lung
8	chr22:28580400-28583800	Weak transcription	Brain Germinal Matrix	brain
9	chr22:28582800-28585000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr22:28582800-28585000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr22:28583000-28585000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr22:28583200-28584200	Enhancers	Fetal Brain Male	brain
13	chr22:28583200-28584600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr22:28583200-28585000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr22:28583400-28584000	Enhancers	Fetal Heart	heart
16	chr22:28583400-28584600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr22:28583400-28584600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr22:28583400-28585000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr22:28583400-28585000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr22:28583400-28585400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr22:28583600-28583800	Enhancers	Fetal Lung	lung
22	chr22:28583600-28584000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:28583600-28584600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:28583600-28584800	Enhancers	Fetal Muscle Leg	muscle
25	chr22:28583600-28585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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