Variant report

Variant	rs11111885
Chromosome Location	chr12:104460228-104460229
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	chr12:104458613..104460615-chr12:104466800..104468593,2	K562	blood:
2	chr12:104458967..104460937-chr12:104609571..104611178,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3850022	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56074043	0.80[AMR][1000 genomes]
rs57381687	0.80[AMR][1000 genomes]
rs61647968	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61939180	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7979648	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104457400-104460400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:104459200-104463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
5	chr12:104459400-104460600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:104459400-104460600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:104459400-104461800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:104459400-104464000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
10	chr12:104459600-104460400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:104459600-104460400	Enhancers	Left Ventricle	heart
12	chr12:104459600-104460600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
13	chr12:104459600-104461600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:104459600-104462800	Weak transcription	Primary B cells from cord blood	blood
15	chr12:104459600-104464000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:104459800-104460400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:104459800-104460400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:104459800-104460400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:104459800-104460400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:104459800-104460400	Weak transcription	Pancreas	Pancrea
24	chr12:104459800-104460600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:104459800-104460600	Enhancers	Adipose Nuclei	Adipose
26	chr12:104459800-104460600	Enhancers	Liver	Liver
27	chr12:104459800-104460600	Enhancers	Brain Angular Gyrus	brain
28	chr12:104459800-104460600	Genic enhancers	Fetal Muscle Leg	muscle
29	chr12:104459800-104460600	Enhancers	Psoas Muscle	Psoas
30	chr12:104459800-104460800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:104459800-104460800	Weak transcription	Placenta	Placenta
32	chr12:104459800-104460800	Weak transcription	Lung	lung
33	chr12:104459800-104461000	Weak transcription	Fetal Intestine Large	intestine
34	chr12:104459800-104461000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:104459800-104461400	Enhancers	Fetal Brain Male	brain
36	chr12:104459800-104461800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:104459800-104462400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:104459800-104463000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:104459800-104465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:104459800-104465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:104459800-104477400	Weak transcription	Gastric	stomach
44	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
45	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
46	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:104460000-104460400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:104460000-104460400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:104460000-104460400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:104460000-104460400	Enhancers	Brain Germinal Matrix	brain

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