Variant report

Variant	rs28546094
Chromosome Location	chr4:15557638-15557639
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	chr4:15555076..15558141-chr4:15558496..15561165,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10003929	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10005158	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10006230	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027900	1.00[AMR][1000 genomes]
rs10034462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10223039	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11930259	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13327973	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489118	0.86[AFR][1000 genomes]
rs4698115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6821494	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844272	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7437025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7658171	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7658528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7674380	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684550	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690497	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884443	0.90[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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
2	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
3	chr4:15502800-15577600	Weak transcription	Right Ventricle	heart
4	chr4:15509200-15564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:15512000-15580000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:15513000-15562400	Weak transcription	Primary B cells from cord blood	blood
7	chr4:15517800-15593600	Weak transcription	HUVEC	blood vessel
8	chr4:15520000-15572400	Weak transcription	Small Intestine	intestine
9	chr4:15526000-15558200	Weak transcription	Spleen	Spleen
10	chr4:15537200-15565000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
12	chr4:15539000-15570400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:15540200-15558200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:15540200-15558200	Weak transcription	Brain Angular Gyrus	brain
15	chr4:15540200-15558200	Weak transcription	Brain Anterior Caudate	brain
16	chr4:15540200-15559600	Weak transcription	Esophagus	oesophagus
17	chr4:15540200-15561600	Weak transcription	HMEC	breast
18	chr4:15540200-15561600	Weak transcription	NHEK	skin
19	chr4:15540200-15562600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:15540400-15563200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:15540400-15565000	Weak transcription	NHDF-Ad	bronchial
22	chr4:15543800-15570600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:15544400-15562400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:15544600-15563600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:15544800-15571600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:15544800-15576200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:15545000-15559400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:15545000-15575600	Weak transcription	Fetal Heart	heart
29	chr4:15546000-15589600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:15546200-15564400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:15546200-15569400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:15546400-15572600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:15546800-15569200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:15548600-15559200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:15548800-15570800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:15549400-15565600	Weak transcription	Primary T cells from cord blood	blood
37	chr4:15549600-15564400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:15549600-15570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
40	chr4:15553800-15557800	Strong transcription	Colon Smooth Muscle	Colon
41	chr4:15554000-15563600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr4:15554000-15572800	Strong transcription	Fetal Brain Female	brain
43	chr4:15554200-15559000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:15554200-15560400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:15554200-15560400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:15554200-15560400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:15554400-15558400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:15554400-15559800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:15554400-15559800	Weak transcription	HepG2	liver
50	chr4:15554400-15560400	Strong transcription	Aorta	Aorta

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