Variant report

Variant	rs5006548
Chromosome Location	chr12:32692233-32692234
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32684229..32686702-chr12:32690075..32692767,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10431226	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431284	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844237	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844239	0.81[AMR][1000 genomes]
rs10844240	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10844241	0.82[AMR][1000 genomes]
rs10844242	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052063	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052066	0.87[AMR][1000 genomes]
rs1499615	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1846553	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133542	0.93[ASN][1000 genomes]
rs4244859	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4931634	0.87[AMR][1000 genomes]
rs4931635	0.87[AMR][1000 genomes]
rs4931636	0.83[AMR][1000 genomes]
rs4931637	0.83[AMR][1000 genomes]
rs6488062	0.87[AMR][1000 genomes]
rs6488063	0.87[AMR][1000 genomes]
rs6488064	0.82[AMR][1000 genomes]
rs7303281	0.95[ASN][1000 genomes]
rs7305459	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964106	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7972677	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32686200-32692400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:32687800-32694800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:32688400-32693000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:32688400-32693200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
7	chr12:32688600-32692600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:32688600-32694200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:32688600-32697800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:32688800-32692600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:32688800-32692800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:32688800-32693000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:32688800-32693800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:32688800-32694200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:32688800-32694800	Weak transcription	Fetal Brain Female	brain
17	chr12:32689000-32693800	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:32689000-32694200	Weak transcription	Fetal Intestine Large	intestine
19	chr12:32689000-32694400	Weak transcription	Fetal Intestine Small	intestine
20	chr12:32689000-32695200	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:32689000-32698000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
23	chr12:32689200-32693000	Weak transcription	Brain Anterior Caudate	brain
24	chr12:32689200-32693600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:32689200-32694800	Enhancers	HepG2	liver
26	chr12:32689200-32697800	Weak transcription	Fetal Heart	heart
27	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:32689400-32694200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:32689600-32693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:32689600-32693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:32689600-32694000	Weak transcription	Hela-S3	cervix
32	chr12:32689600-32694800	Weak transcription	Fetal Lung	lung
33	chr12:32689600-32695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:32689800-32693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:32689800-32694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:32689800-32694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:32689800-32694800	Weak transcription	A549	lung
40	chr12:32690400-32693000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:32690400-32694800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:32690400-32698200	Weak transcription	HSMMtube	muscle
43	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:32690600-32692600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:32690600-32693000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:32690600-32693200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:32690600-32693200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:32690600-32694400	Weak transcription	Right Atrium	heart
49	chr12:32690600-32694800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:32690600-32694800	Weak transcription	Stomach Mucosa	stomach

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