Variant report

Variant	rs12074030
Chromosome Location	chr1:97647474-97647475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11165802	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079660	1.00[EUR][1000 genomes]
rs4128472	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59008244	1.00[EUR][1000 genomes]
rs6681743	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74104304	1.00[EUR][1000 genomes]
rs74104305	1.00[EUR][1000 genomes]
rs74104307	1.00[EUR][1000 genomes]
rs74104308	1.00[EUR][1000 genomes]
rs74104309	1.00[EUR][1000 genomes]
rs74104311	1.00[EUR][1000 genomes]
rs74104313	1.00[EUR][1000 genomes]
rs74106701	1.00[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97620200-97658400	Weak transcription	Lung	lung
2	chr1:97626600-97660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:97627600-97657800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:97629400-97654000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:97629400-97655800	Weak transcription	NHDF-Ad	bronchial
6	chr1:97629400-97658200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:97630400-97652800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:97630400-97654400	Weak transcription	Psoas Muscle	Psoas
9	chr1:97635200-97654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:97635400-97658400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:97636000-97660400	Weak transcription	Right Ventricle	heart
12	chr1:97636800-97657000	Weak transcription	Dnd41	blood
13	chr1:97637800-97649000	Weak transcription	Primary T cells from cord blood	blood
14	chr1:97637800-97653600	Weak transcription	Liver	Liver
15	chr1:97639600-97647800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:97639600-97658400	Weak transcription	HSMM	muscle
17	chr1:97639800-97658000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:97640000-97655800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:97640000-97655800	Weak transcription	Aorta	Aorta
20	chr1:97640000-97663000	Weak transcription	Esophagus	oesophagus
21	chr1:97640400-97657600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:97641200-97658400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:97642000-97656800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:97643600-97660200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:97644400-97654600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:97645400-97649000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:97645400-97660200	Weak transcription	Left Ventricle	heart
28	chr1:97646200-97656800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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