Variant report

Variant	rs72851451
Chromosome Location	chr6:38339036-38339037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38331466..38333849-chr6:38336683..38339653,2	K562	blood:
2	chr6:38338839..38342583-chr6:38344309..38347723,4	K562	blood:
3	chr6:38331466..38333553-chr6:38337264..38339653,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10484928	0.86[ASN][1000 genomes]
rs12529551	0.86[ASN][1000 genomes]
rs13204569	0.97[ASN][1000 genomes]
rs16890615	0.86[ASN][1000 genomes]
rs16890616	0.86[ASN][1000 genomes]
rs1931759	0.81[ASN][1000 genomes]
rs2294738	0.97[ASN][1000 genomes]
rs4573069	0.85[ASN][1000 genomes]
rs4711536	0.81[ASN][1000 genomes]
rs62397031	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62397038	0.90[EUR][1000 genomes]
rs72851447	0.93[EUR][1000 genomes]
rs72851460	0.93[EUR][1000 genomes]
rs9462429	0.81[ASN][1000 genomes]
rs9470862	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38333600-38342400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:38335400-38339200	Weak transcription	HSMMtube	muscle
3	chr6:38337400-38339400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:38337800-38339600	Enhancers	Adipose Nuclei	Adipose
5	chr6:38337800-38339600	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:38337800-38340000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:38338000-38339400	Enhancers	Fetal Kidney	kidney
8	chr6:38338200-38339200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:38338200-38339400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:38338200-38339400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:38338200-38339400	Enhancers	Brain Substantia Nigra	brain
12	chr6:38338200-38341400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:38338400-38339400	Enhancers	Fetal Lung	lung
14	chr6:38338400-38340000	Enhancers	Fetal Stomach	stomach
15	chr6:38338600-38339200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:38338600-38339400	Enhancers	Fetal Muscle Leg	muscle
17	chr6:38338600-38339400	Enhancers	Psoas Muscle	Psoas
18	chr6:38338600-38339600	Enhancers	Brain Angular Gyrus	brain
19	chr6:38338600-38339600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:38338600-38339600	Enhancers	Left Ventricle	heart
21	chr6:38338600-38340800	Enhancers	Ovary	ovary
22	chr6:38338800-38339400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:38338800-38339400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:38338800-38339400	Enhancers	Brain Cingulate Gyrus	brain
25	chr6:38338800-38339400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr6:38338800-38339400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:38338800-38339600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr6:38338800-38340000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:38338800-38341400	Enhancers	NHDF-Ad	bronchial
30	chr6:38339000-38339200	Enhancers	Stomach Smooth Muscle	stomach
31	chr6:38339000-38339400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:38339000-38339400	Enhancers	Brain Anterior Caudate	brain
33	chr6:38339000-38339400	Enhancers	Brain Hippocampus Middle	brain
34	chr6:38339000-38339400	Enhancers	Right Atrium	heart
35	chr6:38339000-38339400	Enhancers	Right Ventricle	heart
36	chr6:38339000-38339400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:38339000-38339600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:38339000-38339600	Enhancers	Colon Smooth Muscle	Colon

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