Variant report

Variant	rs11052024
Chromosome Location	chr12:32633344-32633345
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11052023	0.84[ASN][1000 genomes]
rs11052025	0.80[AMR][1000 genomes]
rs12304759	0.93[EUR][1000 genomes]
rs12315721	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2859602	0.82[AMR][1000 genomes]
rs7132461	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:32610800-32636400	Weak transcription	NHEK	skin
4	chr12:32610800-32639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:32616000-32638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:32619600-32642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:32621600-32636400	Weak transcription	Right Ventricle	heart
8	chr12:32621800-32654000	Weak transcription	Lung	lung
9	chr12:32624800-32636400	Weak transcription	HMEC	breast
10	chr12:32625000-32636400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:32625200-32636400	Weak transcription	Gastric	stomach
13	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:32627200-32638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:32628600-32637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:32629400-32643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:32629600-32635400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:32629600-32643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:32629800-32633800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:32629800-32634200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:32629800-32634400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:32629800-32634800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:32629800-32636000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:32629800-32636400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:32629800-32636400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:32629800-32636400	Weak transcription	Left Ventricle	heart
27	chr12:32630000-32634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:32630000-32638800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:32630600-32636200	Weak transcription	Fetal Brain Male	brain
30	chr12:32630800-32638000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:32631000-32634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:32631400-32636600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:32631600-32633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:32631600-32636200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:32631600-32638800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:32631800-32634400	Weak transcription	Primary B cells from cord blood	blood
37	chr12:32631800-32634400	Weak transcription	HUVEC	blood vessel
38	chr12:32631800-32636600	Weak transcription	Small Intestine	intestine
39	chr12:32631800-32643600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:32632000-32635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:32632000-32635200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:32632000-32635200	Weak transcription	HSMM	muscle
43	chr12:32632000-32635200	Weak transcription	HSMMtube	muscle
44	chr12:32632000-32643600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:32632200-32634200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:32632200-32635200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:32632400-32634400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:32632400-32635200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:32632400-32636200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:32632400-32636200	Weak transcription	Rectal Mucosa Donor 31	rectum

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