Variant report

Variant	rs12414082
Chromosome Location	chr10:50518743-50518744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50518724..50520939-chr10:50521170..50522767,2	K562	blood:
2	chr10:50517433..50519865-chr10:50527374..50529904,2	K562	blood:
3	chr10:50507238..50509671-chr10:50517396..50520442,4	K562	blood:
4	chr10:50518664..50521454-chr10:50523153..50524705,2	K562	blood:
5	chr10:50516625..50523164-chr10:50524827..50529904,7	K562	blood:
6	chr10:50518535..50521351-chr10:50559747..50561511,2	K562	blood:

Variant related genes	Relation type
ENSG00000177354	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10857468	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12252168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416329	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12571426	0.92[ASN][1000 genomes]
rs12572137	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572851	0.90[GIH][hapmap]
rs12573530	0.92[ASN][1000 genomes]
rs17009950	0.81[GIH][hapmap]
rs17176921	0.81[GIH][hapmap]
rs2377942	0.94[ASN][1000 genomes]
rs34752051	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34838288	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59753859	0.94[ASN][1000 genomes]
rs61848596	0.97[ASN][1000 genomes]
rs6537530	0.90[ASN][1000 genomes]
rs7088781	0.90[GIH][hapmap]
rs7916111	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7923735	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50512000-50519200	Weak transcription	Right Atrium	heart
2	chr10:50513800-50522000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
3	chr10:50514400-50519200	Weak transcription	Psoas Muscle	Psoas
4	chr10:50517000-50518800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr10:50517200-50530600	Weak transcription	Pancreas	Pancrea
6	chr10:50517400-50518800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr10:50517400-50518800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr10:50517400-50519400	Enhancers	Fetal Thymus	thymus
9	chr10:50517400-50519600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:50517400-50526400	Weak transcription	K562	blood
11	chr10:50517600-50519000	Enhancers	GM12878-XiMat	blood
12	chr10:50517600-50520600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr10:50517800-50518800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr10:50517800-50518800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr10:50517800-50518800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:50517800-50518800	Flanking Active TSS	Dnd41	blood
17	chr10:50517800-50519400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:50517800-50519600	Enhancers	Spleen	Spleen
19	chr10:50518000-50519600	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:50518000-50520800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr10:50518200-50518800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:50518200-50519200	Enhancers	Duodenum Mucosa	Duodenum
23	chr10:50518200-50519400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr10:50518400-50518800	Enhancers	Esophagus	oesophagus
25	chr10:50518400-50520600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr10:50518400-50523200	Enhancers	Right Ventricle	heart
27	chr10:50518400-50523600	Enhancers	Left Ventricle	heart
28	chr10:50518600-50518800	Enhancers	Primary T cells from cord blood	blood
29	chr10:50518600-50519800	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:50518600-50520000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:50518600-50520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:50518600-50520400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:50518600-50520800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:50518600-50522200	Enhancers	Fetal Heart	heart

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