Variant report

Variant	rs4768388
Chromosome Location	chr12:39223924-39223925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39223144..39224945-chr12:39229587..39231926,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10161183	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10444553	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876208	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169518	0.96[ASN][1000 genomes]
rs11169519	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11169535	0.92[ASN][1000 genomes]
rs11169616	0.97[ASN][1000 genomes]
rs11169760	0.94[ASN][1000 genomes]
rs11169768	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169807	0.97[EUR][1000 genomes]
rs12300353	0.82[AFR][1000 genomes]
rs1400280	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1400285	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1403521	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1516558	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1523118	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1523121	0.94[ASN][1000 genomes]
rs1586373	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2388172	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34246358	0.91[ASN][1000 genomes]
rs35749392	0.95[ASN][1000 genomes]
rs3803020	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3887436	0.96[ASN][1000 genomes]
rs4384412	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4595586	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56149694	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56344858	0.92[ASN][1000 genomes]
rs7314227	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957999	0.84[ASN][1000 genomes]
rs7980448	0.80[ASN][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	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:21 , 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	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:39205600-39229400	Weak transcription	HMEC	breast
6	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
8	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
10	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:39216000-39237400	Weak transcription	Hela-S3	cervix
13	chr12:39217600-39232800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:39219200-39242600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:39219400-39229000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:39221800-39227800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:39221800-39251800	Weak transcription	Liver	Liver
18	chr12:39223000-39227800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:39223200-39224000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:39223600-39238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:39223800-39225800	Weak transcription	Monocytes-CD14+_RO01746	blood

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