Variant report

Variant	rs11052060
Chromosome Location	chr12:32696778-32696779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32695546..32697352-chr12:32831391..32833576,2	K562	blood:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12319134	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538095	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538348	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538469	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17610602	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928311	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965572	0.92[EUR][1000 genomes];1.00[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:94 , 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	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
3	chr12:32688600-32697800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:32689000-32698000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:32689000-32701400	Weak transcription	Brain Germinal Matrix	brain
7	chr12:32689200-32697800	Weak transcription	Fetal Heart	heart
8	chr12:32689200-32701800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:32689600-32701600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:32689600-32702000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:32690400-32698200	Weak transcription	HSMMtube	muscle
12	chr12:32690400-32701600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:32690600-32699400	Weak transcription	Aorta	Aorta
14	chr12:32690600-32701000	Weak transcription	NH-A	brain
15	chr12:32690800-32697400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:32691000-32698600	Weak transcription	Colonic Mucosa	Colon
17	chr12:32691800-32698400	Weak transcription	Right Ventricle	heart
18	chr12:32692400-32697400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:32693400-32698000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:32694000-32698400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:32694200-32697200	Enhancers	Fetal Intestine Large	intestine
23	chr12:32694200-32698400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:32694600-32697400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:32694600-32699200	Weak transcription	Psoas Muscle	Psoas
26	chr12:32695000-32698400	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:32695200-32697800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:32695200-32698000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:32695200-32698000	Weak transcription	NHDF-Ad	bronchial
30	chr12:32695200-32698000	Weak transcription	NHLF	lung
31	chr12:32695200-32698400	Weak transcription	Placenta	Placenta
32	chr12:32695200-32701000	Weak transcription	NHEK	skin
33	chr12:32695200-32701200	Weak transcription	HMEC	breast
34	chr12:32695200-32701800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:32695200-32702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:32695400-32698200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:32695400-32698200	Weak transcription	Primary B cells from cord blood	blood
38	chr12:32695400-32698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:32695400-32698200	Weak transcription	Fetal Brain Female	brain
40	chr12:32695600-32697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:32695600-32697800	Weak transcription	Fetal Brain Male	brain
42	chr12:32695600-32701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:32695800-32697400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:32695800-32698000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:32695800-32701000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:32696000-32696800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32696000-32697200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr12:32696000-32697600	Strong transcription	HSMM	muscle
49	chr12:32696000-32697800	Weak transcription	HUVEC	blood vessel
50	chr12:32696000-32698000	Weak transcription	Primary monocytes fromperipheralblood	blood

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