Variant report

Variant	rs4768394
Chromosome Location	chr12:39245720-39245721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39245335..39247195-chr12:39261964..39264062,2	K562	blood:
2	chr12:39244997..39247195-chr12:39261092..39264062,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10B-9	chr12:39245702-39245864	ucscGeneNc_uc001rml_1

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10160990	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10732735	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1095573	0.90[EUR][1000 genomes]
rs11169037	0.90[JPT][hapmap]
rs11169056	0.82[JPT][hapmap]
rs11169615	0.88[EUR][1000 genomes]
rs11169618	0.88[EUR][1000 genomes]
rs11537523	0.88[EUR][1000 genomes]
rs1356267	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1400281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1516553	0.90[EUR][1000 genomes]
rs1516557	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1533917	0.81[EUR][1000 genomes]
rs1533918	0.92[EUR][1000 genomes]
rs1607040	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1615648	0.90[JPT][hapmap]
rs1684426	0.85[EUR][1000 genomes]
rs1719833	0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs1719847	0.90[JPT][hapmap]
rs1719860	0.85[EUR][1000 genomes]
rs1878225	0.80[JPT][hapmap]
rs1914052	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996879	0.92[EUR][1000 genomes]
rs2056529	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2069210	0.90[JPT][hapmap]
rs2630778	0.85[JPT][hapmap]
rs4002228	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7298168	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7974247	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978838	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826845	0.82[EUR][1000 genomes]
rs826847	0.82[EUR][1000 genomes]
rs826849	0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs826853	0.90[JPT][hapmap];0.83[TSI][hapmap]
rs826860	0.90[JPT][hapmap]
rs826861	0.90[JPT][hapmap]
rs826862	0.90[JPT][hapmap]
rs826869	0.89[JPT][hapmap]
rs826872	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs826884	0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs826885	0.86[EUR][1000 genomes]
rs826887	0.90[JPT][hapmap]
rs826890	0.94[JPT][hapmap]
rs826894	0.89[JPT][hapmap]
rs851933	0.89[JPT][hapmap]
rs862331	0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs862332	0.88[EUR][1000 genomes]
rs866120	0.90[JPT][hapmap];0.83[TSI][hapmap]
rs908511	0.80[JPT][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39221800-39251800	Weak transcription	Liver	Liver
5	chr12:39229400-39252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:39232400-39247600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:39233200-39245800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:39238800-39271600	Weak transcription	NHEK	skin
9	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
10	chr12:39242200-39252400	Weak transcription	Ovary	ovary
11	chr12:39242400-39248200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:39242400-39251200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:39244200-39252000	Weak transcription	Left Ventricle	heart
14	chr12:39245000-39252200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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