Variant report

Variant	rs73412520
Chromosome Location	chr6:38233211-38233212
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	chr6:38231064..38233910-chr6:38235899..38238476,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11964509	1.00[AMR][1000 genomes]
rs58257452	1.00[AMR][1000 genomes]
rs59159418	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947971	1.00[AMR][1000 genomes]
rs6912633	1.00[AMR][1000 genomes]
rs73410491	1.00[AMR][1000 genomes]
rs73412518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7748763	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38208200-38236600	Weak transcription	Gastric	stomach
2	chr6:38208200-38255000	Weak transcription	Ovary	ovary
3	chr6:38216000-38238000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:38220000-38238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:38220600-38241600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:38222000-38234600	Weak transcription	Esophagus	oesophagus
7	chr6:38223600-38256000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:38224400-38239000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:38224400-38267600	Weak transcription	Primary T cells from cord blood	blood
10	chr6:38224600-38255200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:38224800-38256400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:38225000-38255800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:38225200-38238600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:38225800-38238400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:38225800-38239200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:38226400-38258000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:38226600-38256600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:38226600-38257000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:38229400-38233400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:38229400-38233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:38230200-38234600	Weak transcription	Fetal Brain Male	brain
22	chr6:38230200-38236000	Weak transcription	Psoas Muscle	Psoas
23	chr6:38230200-38237400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:38230200-38253400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:38230400-38237200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:38230400-38237200	Weak transcription	Fetal Stomach	stomach
27	chr6:38230400-38237400	Weak transcription	Aorta	Aorta
28	chr6:38230800-38236200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:38230800-38236200	Weak transcription	Adipose Nuclei	Adipose
30	chr6:38230800-38236600	Weak transcription	Left Ventricle	heart
31	chr6:38230800-38237400	Weak transcription	Fetal Brain Female	brain
32	chr6:38230800-38238000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:38230800-38241200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:38230800-38256000	Weak transcription	Right Atrium	heart
35	chr6:38230800-38257800	Weak transcription	Pancreas	Pancrea
36	chr6:38231000-38250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:38231200-38234800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:38231200-38234800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:38231400-38233600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:38231400-38234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:38231400-38234800	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:38231600-38234400	Weak transcription	HSMMtube	muscle
43	chr6:38231600-38234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:38231600-38234600	Weak transcription	Brain Germinal Matrix	brain
45	chr6:38231600-38234600	Weak transcription	Osteobl	bone
46	chr6:38231600-38235400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:38231600-38236200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:38231600-38237200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:38231800-38234600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:38232000-38233800	Enhancers	GM12878-XiMat	blood

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