Variant report

Variant	rs56149694
Chromosome Location	chr12:39263771-39263772
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:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10161183	0.94[ASN][1000 genomes]
rs10444553	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876208	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169518	0.94[ASN][1000 genomes]
rs11169519	0.92[ASN][1000 genomes]
rs11169535	0.90[ASN][1000 genomes]
rs11169616	0.95[ASN][1000 genomes]
rs11169760	0.91[ASN][1000 genomes]
rs11169768	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169807	0.95[EUR][1000 genomes]
rs1400280	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1400285	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1403521	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1516558	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1523118	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1523121	0.91[ASN][1000 genomes]
rs1586373	0.94[ASN][1000 genomes]
rs2138543	0.81[AMR][1000 genomes]
rs2388172	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34246358	0.88[ASN][1000 genomes]
rs35749392	0.92[ASN][1000 genomes]
rs3803020	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3887436	0.94[ASN][1000 genomes]
rs4384412	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4595586	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768388	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56344858	0.90[ASN][1000 genomes]
rs7314227	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957999	0.84[ASN][1000 genomes]
rs7962363	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7970097	0.80[AMR][1000 genomes];0.82[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	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:22 , 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	chr12:39238800-39271600	Weak transcription	NHEK	skin
4	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
5	chr12:39250600-39273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:39251200-39265000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:39252200-39276000	Weak transcription	Left Ventricle	heart
8	chr12:39252600-39265000	Weak transcription	Liver	Liver
9	chr12:39252600-39272000	Weak transcription	A549	lung
10	chr12:39253000-39265000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:39253000-39279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:39253200-39272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:39254400-39265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:39255000-39265200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:39256800-39269400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:39257000-39271400	Weak transcription	HMEC	breast
17	chr12:39257200-39265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:39257200-39265000	Weak transcription	GM12878-XiMat	blood
19	chr12:39257200-39265000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:39261600-39264800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:39261800-39279600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:39262800-39264000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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