Variant report

Variant	rs72827871
Chromosome Location	chr6:16838343-16838344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:16837398..16840135-chr6:16856372..16858999,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10949384	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11963151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189719	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12190567	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12191511	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12194266	0.87[EUR][1000 genomes]
rs12200410	0.87[EUR][1000 genomes]
rs12204343	0.87[EUR][1000 genomes]
rs12204405	0.87[EUR][1000 genomes]
rs12209243	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209732	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12213812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12216494	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1744556	0.83[EUR][1000 genomes]
rs28371453	0.87[EUR][1000 genomes]
rs56267967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56404205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593961	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs621064	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs624591	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs652255	1.00[ASN][1000 genomes]
rs72827862	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72827865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827866	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72827880	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72827883	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs770936	0.83[EUR][1000 genomes]
rs797579	0.83[EUR][1000 genomes]
rs9477232	0.87[EUR][1000 genomes]
rs9477234	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16835400-16839000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:16836200-16838600	Enhancers	Fetal Thymus	thymus
3	chr6:16836200-16840000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:16836400-16838400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr6:16836600-16838400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:16837000-16838400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:16837000-16838600	Enhancers	Primary T cells from cord blood	blood
8	chr6:16837000-16839000	Enhancers	Fetal Brain Female	brain
9	chr6:16837200-16838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:16837200-16838400	Weak transcription	Right Ventricle	heart
11	chr6:16837200-16838800	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:16837200-16838800	Enhancers	Brain Germinal Matrix	brain
13	chr6:16837200-16839200	Enhancers	Fetal Lung	lung
14	chr6:16837200-16840400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:16837200-16840800	Weak transcription	NH-A	brain
16	chr6:16837200-16841200	Enhancers	Fetal Heart	heart
17	chr6:16837400-16838400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:16837400-16838400	Weak transcription	Right Atrium	heart
19	chr6:16837400-16838600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:16837400-16838800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:16837400-16839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:16837400-16840000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:16837400-16840400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:16837400-16841000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:16837400-16849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:16837600-16838400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:16837600-16838400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr6:16837600-16838400	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:16837600-16838600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:16837600-16838600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:16837600-16838600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:16837600-16838600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:16837600-16838600	Enhancers	GM12878-XiMat	blood
34	chr6:16837600-16838800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr6:16837600-16838800	Enhancers	NHDF-Ad	bronchial
36	chr6:16837600-16839600	Enhancers	Fetal Brain Male	brain
37	chr6:16837600-16839800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:16837600-16840600	Weak transcription	Brain Angular Gyrus	brain
39	chr6:16837800-16838400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:16837800-16849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:16838000-16838600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:16838200-16838400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:16838200-16838600	Enhancers	Fetal Muscle Trunk	muscle
44	chr6:16838200-16838600	Enhancers	Left Ventricle	heart
45	chr6:16838200-16838800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:16838200-16838800	Enhancers	Placenta Amnion	Placenta Amnion

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