Variant report

Variant	rs12408074
Chromosome Location	chr1:185061018-185061019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185054642..185056365-chr1:185060219..185062027,2	K562	blood:
2	chr1:185027893..185030728-chr1:185060878..185063774,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12063375	0.92[EUR][1000 genomes]
rs12119759	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12385701	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12563135	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12566404	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2378957	0.95[EUR][1000 genomes]
rs28609768	0.86[AMR][1000 genomes]
rs34463352	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34916432	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34969721	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35507672	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3820183	0.93[EUR][1000 genomes]
rs6677056	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7523448	0.88[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
4	chr1:185030200-185076600	Weak transcription	Gastric	stomach
5	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:185037800-185065400	Weak transcription	HMEC	breast
7	chr1:185038400-185063600	Weak transcription	Psoas Muscle	Psoas
8	chr1:185038600-185063600	Weak transcription	Left Ventricle	heart
9	chr1:185043600-185069400	Weak transcription	Pancreas	Pancrea
10	chr1:185044000-185065200	Weak transcription	NHEK	skin
11	chr1:185045000-185068800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:185046000-185066000	Weak transcription	Stomach Mucosa	stomach
13	chr1:185050000-185067200	Weak transcription	Fetal Heart	heart
14	chr1:185052000-185076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:185052400-185074800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:185052800-185070800	Weak transcription	Small Intestine	intestine
17	chr1:185052800-185076600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:185053200-185067200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:185053600-185070800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:185054000-185065400	Weak transcription	NHDF-Ad	bronchial
21	chr1:185054200-185073200	Weak transcription	Brain Anterior Caudate	brain
22	chr1:185054200-185073800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:185054400-185101800	Weak transcription	A549	lung
24	chr1:185054600-185063800	Weak transcription	Right Ventricle	heart
25	chr1:185054600-185068800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:185054800-185072400	Weak transcription	HepG2	liver
27	chr1:185055000-185070200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:185055200-185067400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:185055200-185070200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:185055200-185076600	Weak transcription	Lung	lung
31	chr1:185055400-185062000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:185055400-185062000	Weak transcription	NH-A	brain
33	chr1:185055400-185062200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:185055400-185062600	Weak transcription	Fetal Kidney	kidney
35	chr1:185055400-185064400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:185055400-185067200	Weak transcription	GM12878-XiMat	blood
37	chr1:185055400-185069200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
39	chr1:185055600-185067200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:185055600-185067200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:185055800-185064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:185055800-185067200	Weak transcription	Spleen	Spleen
43	chr1:185056000-185076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:185056200-185072400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:185056200-185074200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:185056400-185061200	Strong transcription	Dnd41	blood
48	chr1:185056400-185064600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:185056400-185064600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:185056400-185064800	Strong transcription	Primary hematopoietic stem cells	blood

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