Variant report

Variant	rs73717799
Chromosome Location	chr6:5002866-5002867
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	chr6:4776139..4778956-chr6:5002447..5004557,2	K562	blood:
2	chr6:5002773..5004480-chr6:5029318..5032794,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272142	Chromatin interaction
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56262509	0.88[AFR][1000 genomes]
rs61033666	0.88[AFR][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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats 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
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription 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 miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4985600-5003000	Weak transcription	HUVEC	blood vessel
2	chr6:4985600-5003200	Weak transcription	Hela-S3	cervix
3	chr6:4985800-5003600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:4987600-5003000	Weak transcription	GM12878-XiMat	blood
5	chr6:4987600-5003600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:4988200-5003600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:4988800-5003600	Weak transcription	HMEC	breast
8	chr6:4989200-5003600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:4990000-5003600	Weak transcription	Fetal Lung	lung
10	chr6:4990400-5003600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:4990400-5003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:4990800-5003000	Weak transcription	Fetal Heart	heart
13	chr6:4990800-5003600	Weak transcription	Right Ventricle	heart
14	chr6:4992200-5003400	Weak transcription	NH-A	brain
15	chr6:4992400-5003600	Weak transcription	Small Intestine	intestine
16	chr6:4992800-5003600	Weak transcription	Brain Germinal Matrix	brain
17	chr6:4993000-5003600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:4993400-5003400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:4993600-5003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:4993600-5003600	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:4994400-5003600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:4994600-5003600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:4995200-5003000	Weak transcription	Fetal Brain Female	brain
24	chr6:4995200-5003600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:4996400-5003600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:4997000-5003600	Weak transcription	Fetal Kidney	kidney
27	chr6:4997200-5003200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:4997200-5003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:4997600-5003400	Weak transcription	Colonic Mucosa	Colon
30	chr6:4997600-5003600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr6:4997800-5003600	Weak transcription	Ovary	ovary
32	chr6:4998000-5003600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:4998000-5003600	Weak transcription	Thymus	Thymus
34	chr6:4998200-5003200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:4998200-5003600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:4998200-5003600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:4998400-5003200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:4998400-5003600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:4998400-5003600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:4998400-5003600	Weak transcription	NHLF	lung
41	chr6:4998800-5003400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:4999000-5003000	Weak transcription	Osteobl	bone
43	chr6:4999200-5003000	Weak transcription	NHDF-Ad	bronchial
44	chr6:5000000-5003600	Weak transcription	Primary B cells from cord blood	blood
45	chr6:5000200-5003200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:5000200-5003600	Weak transcription	Stomach Mucosa	stomach
47	chr6:5000600-5004000	Weak transcription	Fetal Brain Male	brain
48	chr6:5001200-5003000	Strong transcription	K562	blood
49	chr6:5001200-5003400	Genic enhancers	HepG2	liver
50	chr6:5001400-5003600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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