Variant report

Variant	rs73721499
Chromosome Location	chr6:4000003-4000004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:3997291..4000152-chr6:4006833..4008648,3	K562	blood:
2	chr6:3997364..4000152-chr6:4006833..4008648,2	K562	blood:
3	chr6:3999035..4001331-chr6:4003173..4005443,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf146-1	chr6:3999741-4000178	NONHSAT107262

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11242896	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11962460	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12216086	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1324450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4959921	0.84[AMR][1000 genomes]
rs58275491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs654954	0.92[EUR][1000 genomes]
rs664264	0.92[EUR][1000 genomes]
rs6912179	0.94[ASN][1000 genomes]
rs6931794	0.94[ASN][1000 genomes]
rs6934443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937619	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938648	0.94[ASN][1000 genomes]
rs73721501	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9392545	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1800199	chr6:3986611-4014872	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:3979000-4003200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr6:3980600-4003600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:3985400-4011000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:3991200-4003800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:3991200-4008400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:3991200-4010400	Weak transcription	K562	blood
7	chr6:3991200-4011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:3991200-4012200	Weak transcription	Left Ventricle	heart
9	chr6:3991400-4003600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:3991400-4011000	Weak transcription	Lung	lung
11	chr6:3991400-4016800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:3991600-4000200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:3991600-4001800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:3991600-4003000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:3991600-4003600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:3991600-4007000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:3991600-4008000	Weak transcription	Liver	Liver
18	chr6:3991600-4008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:3991600-4008400	Weak transcription	Fetal Kidney	kidney
20	chr6:3991600-4008400	Weak transcription	HSMM	muscle
21	chr6:3991600-4017200	Weak transcription	Fetal Brain Female	brain
22	chr6:3991600-4017400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:3991600-4017600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:3991800-4008000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:3991800-4016600	Weak transcription	Aorta	Aorta
26	chr6:3991800-4017400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:3991800-4017400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:3991800-4017600	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:3992600-4008400	Weak transcription	Fetal Intestine Small	intestine
30	chr6:3993200-4011000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:3994000-4000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:3997200-4000200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:3997400-4003800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:3997400-4016200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:3997400-4017400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:3997600-4017600	Weak transcription	Psoas Muscle	Psoas
37	chr6:3997800-4003000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:3997800-4010800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:3997800-4011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:3998000-4003400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:3998000-4017400	Weak transcription	NHLF	lung
42	chr6:3998200-4017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:3998400-4000800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:3998400-4003200	Weak transcription	Fetal Stomach	stomach
45	chr6:3998400-4004400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:3998400-4005400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:3998400-4008200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:3998400-4008200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:3998400-4008400	Weak transcription	Brain Anterior Caudate	brain
50	chr6:3998400-4008400	Weak transcription	Fetal Lung	lung

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