Variant report

Variant	rs9989171
Chromosome Location	chr14:72916303-72916304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10131300	0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs10151157	0.95[CEU][hapmap]
rs11158958	1.00[CHB][hapmap]
rs1155166	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157500	1.00[CHB][hapmap]
rs11628490	0.96[CEU][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs12433564	0.81[CEU][hapmap];0.90[ASN][1000 genomes]
rs12436059	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860152	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2159194	0.81[CEU][hapmap];0.90[ASN][1000 genomes]
rs2238189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286069	1.00[CHB][hapmap]
rs2332835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903015	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4903019	0.90[EUR][1000 genomes]
rs4903020	0.96[CEU][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs4903022	0.90[EUR][1000 genomes]
rs4903025	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903026	0.81[CEU][hapmap];0.90[ASN][1000 genomes]
rs4903029	1.00[CHB][hapmap]
rs6574077	0.90[ASN][1000 genomes]
rs7143134	0.96[CEU][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs7143154	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143912	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7146819	0.84[EUR][1000 genomes]
rs7153455	0.92[CEU][hapmap];1.00[CHD][hapmap]
rs7155105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158962	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159439	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7160019	1.00[CHB][hapmap]
rs719064	0.96[CEU][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs758265	0.81[CEU][hapmap]
rs8012037	0.81[CEU][hapmap]
rs8013020	1.00[CHB][hapmap]
rs8018108	0.96[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9989171	C14orf162	cis	cerebellum	SCAN
rs9989171	VSX2	cis	parietal	SCAN
rs9989171	ZNF410	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72908400-72917600	Weak transcription	Lung	lung
2	chr14:72911600-72916400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:72911600-72916400	Weak transcription	Dnd41	blood
4	chr14:72911800-72917200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:72911800-72917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:72911800-72917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:72912000-72916400	Weak transcription	Primary T cells from cord blood	blood
8	chr14:72912000-72917000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:72912000-72917200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:72912000-72917400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:72912200-72917400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:72913600-72917400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:72913800-72916400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:72913800-72922600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:72914000-72916400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:72916000-72917800	Enhancers	Brain Germinal Matrix	brain
17	chr14:72916200-72916400	Enhancers	Colon Smooth Muscle	Colon
18	chr14:72916200-72916400	Enhancers	Fetal Brain Male	brain
19	chr14:72916200-72916400	Weak transcription	Left Ventricle	heart
20	chr14:72916200-72916600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:72916200-72917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:72916200-72917600	Enhancers	GM12878-XiMat	blood
23	chr14:72916200-72920000	Enhancers	Fetal Stomach	stomach

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