Variant report

Variant	rs73784479
Chromosome Location	chr6:163995257-163995258
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163832623..163836662-chr6:163990745..163995290,7	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12110648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56377162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939751	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787632	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7742678	1.00[AMR][1000 genomes]
rs7753923	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7765302	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9784871	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163949600-163995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:163952600-163996600	Weak transcription	Gastric	stomach
3	chr6:163959800-163997200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:163970800-164000200	Weak transcription	Right Atrium	heart
5	chr6:163972600-163995600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:163974000-163997000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:163974200-163997000	Weak transcription	Fetal Intestine Large	intestine
8	chr6:163978000-163998000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:163978800-163997600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:163979200-163996200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:163980000-163997200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:163980200-163996000	Weak transcription	Small Intestine	intestine
13	chr6:163982800-163996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:163982800-163998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:163983000-163998400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:163983200-163997400	Weak transcription	Fetal Brain Female	brain
17	chr6:163984800-163995400	Weak transcription	Psoas Muscle	Psoas
18	chr6:163984800-164000000	Weak transcription	Right Ventricle	heart
19	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
20	chr6:163985800-163996600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:163985800-163997600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
23	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
24	chr6:163987800-164000200	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:163988000-163995400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:163989600-163997800	Enhancers	Brain Hippocampus Middle	brain
27	chr6:163991200-163996200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:163991200-164001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:163991600-163998200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:163991800-163996000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:163992000-163996600	Weak transcription	Fetal Brain Male	brain
32	chr6:163992000-164000000	Strong transcription	HSMM	muscle
33	chr6:163992000-164000600	Weak transcription	Fetal Kidney	kidney
34	chr6:163992200-163995400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:163992200-163995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:163992200-163995600	Enhancers	HMEC	breast
37	chr6:163992200-163996600	Weak transcription	Thymus	Thymus
38	chr6:163992200-163997000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:163992200-163997200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:163992200-164000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:163992200-164000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:163992200-164000200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:163992200-164000400	Weak transcription	Pancreas	Pancrea
44	chr6:163992200-164000600	Weak transcription	Fetal Stomach	stomach
45	chr6:163992200-164002000	Weak transcription	Ovary	ovary
46	chr6:163992200-164007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:163992200-164007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
49	chr6:163992400-163995400	Weak transcription	Adipose Nuclei	Adipose
50	chr6:163992400-163995400	Weak transcription	Fetal Muscle Trunk	muscle

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