Variant report

Variant	rs10841933
Chromosome Location	chr12:22221709-22221710
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	chr12:22219317..22222096-chr12:22223518..22225466,2	K562	blood:
2	chr12:22220400..22223004-chr12:22489207..22490731,2	K562	blood:

Variant related genes	Relation type
ENSG00000111728	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10841928	0.80[AMR][1000 genomes]
rs10841929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841931	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10841936	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11046275	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11046276	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046281	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11046289	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046290	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046291	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046292	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046297	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058849	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2111352	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2216296	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418037	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2955515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970800	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809204	0.90[ASN][1000 genomes]
rs61921546	0.82[ASN][1000 genomes]
rs6487268	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487272	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487273	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487276	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7135019	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs731355	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7316741	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7316854	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22202200-22223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:22203800-22235200	Weak transcription	Gastric	stomach
3	chr12:22204600-22223400	Weak transcription	Pancreas	Pancrea
4	chr12:22205200-22222200	Weak transcription	Fetal Intestine Small	intestine
5	chr12:22209800-22222000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:22209800-22223200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:22209800-22229200	Weak transcription	Thymus	Thymus
8	chr12:22216000-22221800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:22216200-22222200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:22216200-22233200	Weak transcription	K562	blood
11	chr12:22217800-22222000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr12:22218800-22222000	Weak transcription	HSMM	muscle
13	chr12:22218800-22222400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:22218800-22222600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:22218800-22223000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:22219000-22222400	Weak transcription	A549	lung
17	chr12:22219000-22222600	Weak transcription	HSMMtube	muscle
18	chr12:22219200-22221800	Weak transcription	Primary B cells from cord blood	blood
19	chr12:22219200-22222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:22219200-22223000	Weak transcription	Placenta	Placenta
21	chr12:22219400-22221800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:22219400-22222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:22219600-22222200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:22219600-22224200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:22219800-22221800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:22219800-22221800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:22219800-22221800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:22219800-22221800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:22219800-22222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:22219800-22222200	Weak transcription	Fetal Intestine Large	intestine
31	chr12:22219800-22222200	Weak transcription	Osteobl	bone
32	chr12:22219800-22222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:22219800-22222600	Weak transcription	Adipose Nuclei	Adipose
34	chr12:22219800-22222600	Weak transcription	Fetal Kidney	kidney
35	chr12:22220000-22223600	Weak transcription	Fetal Lung	lung
36	chr12:22220200-22222400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:22220400-22222000	Weak transcription	NH-A	brain
38	chr12:22220400-22223000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:22220400-22223200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:22220600-22222200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:22220600-22222800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:22220800-22222400	Weak transcription	Primary T cells from cord blood	blood
43	chr12:22220800-22222800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:22221000-22222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:22221000-22222600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:22221200-22222600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:22221200-22223000	Weak transcription	Liver	Liver

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