Variant report

Variant	rs17091127
Chromosome Location	chr12:42768946-42768947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17091078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17091110	1.00[ASN][1000 genomes]
rs17091132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34837068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58990065	0.81[AFR][1000 genomes];0.80[ASN][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	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
4	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
5	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:42721800-42797000	Weak transcription	NHLF	lung
9	chr12:42721800-42803600	Weak transcription	Gastric	stomach
10	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
11	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
14	chr12:42722200-42769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:42730800-42769600	Weak transcription	NH-A	brain
16	chr12:42731400-42769600	Weak transcription	Fetal Lung	lung
17	chr12:42731800-42770400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:42732200-42781200	Weak transcription	Fetal Brain Female	brain
19	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:42732400-42769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:42738000-42787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:42746000-42778400	Weak transcription	Fetal Brain Male	brain
25	chr12:42746600-42769800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:42747600-42769000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:42750400-42769000	Weak transcription	Ovary	ovary
28	chr12:42750400-42769000	Weak transcription	Osteobl	bone
29	chr12:42750400-42769200	Weak transcription	Left Ventricle	heart
30	chr12:42750400-42769400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:42750400-42769600	Weak transcription	HSMMtube	muscle
32	chr12:42750400-42770200	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:42750400-42770200	Weak transcription	Fetal Stomach	stomach
34	chr12:42750400-42770200	Weak transcription	Thymus	Thymus
35	chr12:42750600-42769400	Weak transcription	Placenta	Placenta
36	chr12:42750800-42769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:42750800-42769800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:42752000-42769400	Weak transcription	Adipose Nuclei	Adipose
39	chr12:42753600-42769000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:42753600-42776200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:42754400-42769800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:42754800-42769000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:42755000-42769200	Weak transcription	HUVEC	blood vessel
44	chr12:42756200-42769400	Weak transcription	Hela-S3	cervix
45	chr12:42756600-42769000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:42756600-42769400	Weak transcription	HSMM	muscle
47	chr12:42757000-42769000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:42757000-42769400	Weak transcription	HMEC	breast
49	chr12:42757000-42769600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:42757000-42769600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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