Variant report

Variant	rs12199128
Chromosome Location	chr6:44127819-44127820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12202501	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12206251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206795	0.87[EUR][1000 genomes]
rs2092870	0.87[EUR][1000 genomes]
rs3734696	0.89[EUR][1000 genomes]
rs3734697	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4628095	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4711764	0.87[EUR][1000 genomes]
rs4711766	0.87[EUR][1000 genomes]
rs4714750	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4714754	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714759	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4714761	0.86[ASN][1000 genomes]
rs4714762	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62401766	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62403189	0.87[EUR][1000 genomes]
rs9349271	0.87[EUR][1000 genomes]
rs9349272	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9349275	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357432	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9369448	0.87[EUR][1000 genomes]
rs9369449	0.87[EUR][1000 genomes]
rs9369450	0.87[EUR][1000 genomes]
rs9369453	0.87[EUR][1000 genomes]
rs9369454	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9369456	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9369457	0.82[AMR][1000 genomes]
rs9369459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9381294	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394984	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44114000-44129400	Weak transcription	NHDF-Ad	bronchial
2	chr6:44114200-44128400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:44114200-44129200	Weak transcription	NH-A	brain
4	chr6:44115200-44129400	Weak transcription	Hela-S3	cervix
5	chr6:44115600-44128400	Weak transcription	Dnd41	blood
6	chr6:44117200-44131200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:44117400-44129200	Weak transcription	HSMM	muscle
8	chr6:44117600-44129400	Weak transcription	HSMMtube	muscle
9	chr6:44117800-44130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:44118200-44129000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:44118600-44130600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:44119800-44128400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:44119800-44128600	Weak transcription	GM12878-XiMat	blood
14	chr6:44119800-44130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:44119800-44140600	Weak transcription	Right Atrium	heart
16	chr6:44121000-44129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:44121000-44129200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:44121000-44129200	Weak transcription	Osteobl	bone
19	chr6:44121800-44129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:44122200-44128600	Weak transcription	HMEC	breast
21	chr6:44122400-44128000	Weak transcription	Fetal Brain Female	brain
22	chr6:44122400-44128400	Weak transcription	NHEK	skin
23	chr6:44123800-44128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:44124600-44128800	Weak transcription	Fetal Stomach	stomach
25	chr6:44124600-44130200	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:44124800-44129400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:44124800-44129400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:44125000-44128000	Weak transcription	Thymus	Thymus
29	chr6:44125000-44128400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:44125000-44129600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:44125000-44130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:44125000-44132200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:44125000-44132200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:44125000-44133800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:44125200-44131000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:44125200-44131200	Enhancers	HepG2	liver
37	chr6:44125800-44129800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:44126400-44129200	Weak transcription	Stomach Mucosa	stomach
39	chr6:44126800-44128200	Weak transcription	Fetal Thymus	thymus
40	chr6:44126800-44129200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:44126800-44133400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:44127400-44129200	Weak transcription	Pancreas	Pancrea
43	chr6:44127400-44131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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