Variant report

Variant	rs12105947
Chromosome Location	chr2:33604056-33604057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12105119	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12105747	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12105856	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17012864	1.00[JPT][hapmap]
rs17012887	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012919	0.82[YRI][hapmap]
rs17644939	1.00[JPT][hapmap]
rs1869451	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3731573	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3769551	1.00[ASN][1000 genomes]
rs55766721	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284019	1.00[ASN][1000 genomes]
rs6719824	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs72802025	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802029	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802037	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 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	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
3	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
4	chr2:33588400-33624400	Weak transcription	Gastric	stomach
5	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:33590800-33612600	Weak transcription	Ovary	ovary
9	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:33595200-33609200	Weak transcription	Left Ventricle	heart
12	chr2:33596200-33614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:33596400-33613800	Weak transcription	Liver	Liver
14	chr2:33597000-33609000	Weak transcription	Fetal Heart	heart
15	chr2:33597200-33622200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:33597400-33610200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:33598200-33605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33601600-33604800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:33602200-33613600	Weak transcription	NHLF	lung
20	chr2:33602400-33604600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:33602400-33604600	Weak transcription	HUVEC	blood vessel
22	chr2:33602800-33606000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:33602800-33607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:33603000-33604800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:33603000-33610600	Weak transcription	Aorta	Aorta
26	chr2:33603200-33610600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:33603200-33611200	Weak transcription	Osteobl	bone
28	chr2:33603400-33604200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:33603600-33604200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:33603600-33604200	Enhancers	Brain Anterior Caudate	brain
31	chr2:33603600-33604200	Enhancers	NHDF-Ad	bronchial
32	chr2:33603600-33604400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:33603600-33604800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:33603600-33604800	Enhancers	Brain Substantia Nigra	brain
35	chr2:33603600-33605000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:33603600-33605200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:33603600-33605400	Enhancers	Brain Hippocampus Middle	brain
38	chr2:33603800-33604200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:33603800-33604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:33603800-33604200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:33603800-33604200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:33603800-33604200	Enhancers	HSMM	muscle
43	chr2:33603800-33604200	Enhancers	NH-A	brain
44	chr2:33603800-33604600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:33603800-33604800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:33603800-33604800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:33603800-33604800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:33603800-33604800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:33603800-33604800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr2:33603800-33604800	Enhancers	Brain Angular Gyrus	brain

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