Variant report

Variant	rs28457815
Chromosome Location	chr6:166913291-166913292
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	chr6:166912409..166913951-chr6:166915712..166917232,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10946173	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235274	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235275	0.87[EUR][1000 genomes]
rs2281044	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28556679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4710059	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4710060	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6940371	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886939	chr6:166859725-166922813	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166862400-166920600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:166890600-166925200	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:166893000-166923200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:166893600-166921400	Weak transcription	Fetal Brain Male	brain
5	chr6:166894800-166928400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:166897600-166922400	Weak transcription	HSMMtube	muscle
7	chr6:166899400-166929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:166901000-166954800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:166901400-166922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:166902200-166954400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:166902400-166917600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:166902400-166922600	Weak transcription	Thymus	Thymus
13	chr6:166902400-166923600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:166902600-166916800	Weak transcription	Primary B cells from cord blood	blood
15	chr6:166902600-166952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:166903000-166915800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:166903000-166919200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:166903000-166925400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:166903200-166916000	Weak transcription	NHDF-Ad	bronchial
20	chr6:166903600-166916200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:166903800-166916200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:166903800-166916600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:166903800-166922000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:166904000-166916400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:166904000-166923800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:166905000-166916000	Weak transcription	Right Atrium	heart
27	chr6:166905000-166916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:166905000-166925200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:166905000-166928200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:166905000-166928400	Weak transcription	HSMM	muscle
31	chr6:166906000-166916000	Weak transcription	HUVEC	blood vessel
32	chr6:166906000-166916400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:166906200-166921000	Weak transcription	Fetal Kidney	kidney
34	chr6:166906400-166915200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:166906600-166913800	Strong transcription	Ovary	ovary
36	chr6:166906600-166915000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:166906600-166915400	Strong transcription	Right Ventricle	heart
38	chr6:166906600-166923200	Strong transcription	Gastric	stomach
39	chr6:166906600-166923800	Strong transcription	Fetal Stomach	stomach
40	chr6:166906600-166925000	Strong transcription	Adipose Nuclei	Adipose
41	chr6:166906600-166925200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:166906800-166919800	Strong transcription	Brain Germinal Matrix	brain
43	chr6:166907000-166923200	Strong transcription	Fetal Brain Female	brain
44	chr6:166907200-166914800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:166907600-166914800	Strong transcription	Spleen	Spleen
46	chr6:166907800-166923000	Strong transcription	Lung	lung
47	chr6:166909200-166921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:166909200-166921800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:166909400-166928400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr6:166909600-166913400	Weak transcription	Brain Hippocampus Middle	brain

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