Variant report

Variant	rs9392718
Chromosome Location	chr6:5831567-5831568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11757934	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11961267	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13191588	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13204941	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13205062	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13205213	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13208150	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13208229	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13218554	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13218657	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13218815	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13218954	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13219208	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13219593	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13219662	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13219875	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13219882	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13220220	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1359052	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1407795	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1819201	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830685	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1830686	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1830687	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1830688	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35541713	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35636471	0.84[EUR][1000 genomes]
rs4370407	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4604310	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57758371	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59550778	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6934706	0.84[EUR][1000 genomes]
rs6941973	0.83[EUR][1000 genomes]
rs9378987	0.83[ASN][1000 genomes]
rs9378988	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9392716	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9405873	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9405874	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9405875	0.81[EUR][1000 genomes]
rs9405876	0.83[EUR][1000 genomes]
rs9502354	0.84[EUR][1000 genomes]
rs9504540	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9504542	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9504546	0.83[EUR][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	nsv5183	chr6:5821731-5866796	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv970075	chr6:5829270-5841514	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9392718	SERPINB6	cis	cerebellum	SCAN
rs9392718	TUBB2B	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5825000-5832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:5826600-5831600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:5827400-5835000	Enhancers	Fetal Thymus	thymus
4	chr6:5827600-5831600	Enhancers	Primary T cells from cord blood	blood
5	chr6:5828000-5831600	Weak transcription	Right Atrium	heart
6	chr6:5828200-5833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:5828400-5831600	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:5828800-5831600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr6:5828800-5831600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr6:5828800-5831600	Weak transcription	Thymus	Thymus
11	chr6:5829000-5831600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:5829200-5831800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:5829200-5835000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:5829400-5831600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:5829600-5831600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:5829600-5831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:5830400-5831600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:5830400-5831600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:5830400-5833400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:5830600-5831600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:5830600-5833600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:5830600-5834000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:5830600-5834200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:5830800-5831600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:5830800-5833000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:5830800-5834000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:5831000-5833400	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:5831000-5834000	Enhancers	Primary B cells from cord blood	blood
29	chr6:5831200-5831600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:5831200-5831600	Enhancers	Dnd41	blood
31	chr6:5831200-5831800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:5831200-5832200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr6:5831200-5832600	Enhancers	Spleen	Spleen
34	chr6:5831400-5832600	Enhancers	Adipose Nuclei	Adipose
35	chr6:5831400-5834000	Enhancers	Lung	lung

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