Variant report

Variant	rs12828628
Chromosome Location	chr12:32418520-32418521
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	chr12:32418322..32421345-chr12:32425361..32428324,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10844162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844168	0.91[ASN][1000 genomes]
rs11051881	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051890	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051898	0.91[ASN][1000 genomes]
rs12317383	0.93[EUR][1000 genomes]
rs12578420	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579050	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12579433	0.84[EUR][1000 genomes]
rs13328922	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34649333	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4001803	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61926959	0.91[ASN][1000 genomes]
rs67559213	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67607066	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7295546	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32393600-32423800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:32394000-32424200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:32394400-32423800	Weak transcription	NH-A	brain
4	chr12:32402000-32424000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:32402400-32423600	Weak transcription	Osteobl	bone
6	chr12:32403000-32424400	Weak transcription	HSMMtube	muscle
7	chr12:32403200-32424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:32403200-32424400	Weak transcription	HSMM	muscle
9	chr12:32403400-32423600	Weak transcription	Brain Germinal Matrix	brain
10	chr12:32405000-32423800	Weak transcription	Left Ventricle	heart
11	chr12:32405600-32423200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:32405600-32423800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:32407000-32423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:32407800-32423400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:32408200-32424000	Weak transcription	Hela-S3	cervix
16	chr12:32408200-32425600	Weak transcription	Primary T cells from cord blood	blood
17	chr12:32409400-32423600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:32409400-32423800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:32411200-32423600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:32411200-32423600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:32411200-32426200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:32411400-32424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:32411600-32424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:32412600-32424000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:32412600-32426000	Weak transcription	K562	blood
26	chr12:32413400-32437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:32414400-32423800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:32414600-32423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:32414600-32423800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:32416600-32418600	Enhancers	Primary B cells from cord blood	blood
31	chr12:32416600-32419800	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:32416800-32419200	Enhancers	Fetal Thymus	thymus
33	chr12:32416800-32419400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:32416800-32420200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:32417200-32419200	Enhancers	Dnd41	blood
36	chr12:32417400-32420000	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:32417600-32419000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:32417600-32419000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:32417600-32419200	Enhancers	NHDF-Ad	bronchial
40	chr12:32417800-32418600	Enhancers	Fetal Intestine Large	intestine
41	chr12:32417800-32418600	Enhancers	Fetal Intestine Small	intestine
42	chr12:32417800-32418600	Enhancers	Fetal Stomach	stomach
43	chr12:32417800-32419000	Enhancers	HUVEC	blood vessel
44	chr12:32417800-32419200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:32417800-32419200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:32417800-32419200	Enhancers	Thymus	Thymus
47	chr12:32418000-32418600	Enhancers	Ovary	ovary
48	chr12:32418000-32419200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:32418200-32419400	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:32418200-32422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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