Variant report

Variant	rs6865179
Chromosome Location	chr5:166731773-166731774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10043619	1.00[CEU][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10462891	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10475839	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11739327	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13355217	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4075224	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4349736	0.89[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56857681	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58150693	0.81[EUR][1000 genomes]
rs59094139	0.96[EUR][1000 genomes]
rs61241624	0.96[EUR][1000 genomes]
rs7341056	0.81[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7730469	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7731005	1.00[CEU][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[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	nsv869374	chr5:166488702-166817411	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032183	chr5:166612188-166732287	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv883100	chr5:166718807-166808602	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6865179	LOC257358	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166729000-166733000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:166729600-166733200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:166729600-166733400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:166730200-166732600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:166730200-166732600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:166730400-166734200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:166730600-166732600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:166730600-166734200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:166730800-166732400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:166730800-166733200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:166730800-166735200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:166730800-166735200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:166731000-166732000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:166731000-166732400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:166731000-166732800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:166731000-166733000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:166731200-166732000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:166731200-166733000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:166731200-166733600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:166731200-166735400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:166731400-166732200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:166731600-166732000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:166731600-166732600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:166731600-166733200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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