Variant report

Variant	rs55981107
Chromosome Location	chr12:11972201-11972202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16907359	0.94[EUR][1000 genomes]
rs17300449	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17819001	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56116163	0.92[EUR][1000 genomes]
rs56198451	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56403725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73052064	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73052069	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73052074	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73052077	0.94[EUR][1000 genomes]
rs73052089	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11966000-11974800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:11966200-11974800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:11966400-11974600	Weak transcription	Small Intestine	intestine
4	chr12:11966400-11974800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:11966400-11975000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:11966400-11983000	Weak transcription	Colonic Mucosa	Colon
7	chr12:11966600-11978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:11966800-11974800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:11966800-11974800	Weak transcription	Liver	Liver
10	chr12:11966800-11974800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:11966800-11975200	Weak transcription	Brain Germinal Matrix	brain
12	chr12:11967000-11974800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:11967200-11972600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:11967200-11975000	Weak transcription	Fetal Kidney	kidney
15	chr12:11967200-11982800	Weak transcription	Stomach Mucosa	stomach
16	chr12:11967400-11984000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:11967600-11974600	Weak transcription	Primary T cells from cord blood	blood
18	chr12:11967600-11975200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:11967800-11974600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:11967800-11974800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:11967800-11974800	Weak transcription	A549	lung
22	chr12:11967800-11980200	Weak transcription	Aorta	Aorta
23	chr12:11968000-11973000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:11968000-11974800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:11968000-11974800	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:11968000-11974800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:11968000-11974800	Weak transcription	HSMM	muscle
28	chr12:11968000-11974800	Weak transcription	HSMMtube	muscle
29	chr12:11968000-11974800	Weak transcription	HUVEC	blood vessel
30	chr12:11968000-11975000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:11968000-11975000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:11968000-11975000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:11968000-11975000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:11968000-11975000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:11968200-11972400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:11968200-11974800	Weak transcription	NHLF	lung
37	chr12:11968400-11975200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:11968600-11973000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:11968600-11974600	Weak transcription	NH-A	brain
40	chr12:11968600-11974800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:11968600-11975000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:11968600-11975000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:11968800-11974800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:11968800-11974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:11968800-11975000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:11968800-11975000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:11968800-11975000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:11969000-11974800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:11969000-11975000	Weak transcription	NHEK	skin

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