Variant report

Variant	rs28514678
Chromosome Location	chr4:89768821-89768822
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	chr4:89763902..89766661-chr4:89768609..89770489,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10011267	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10023099	0.90[ASN][1000 genomes]
rs10024506	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12643428	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13149209	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2904255	0.82[ASN][1000 genomes]
rs4425336	0.86[EUR][1000 genomes]
rs57400569	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs59473955	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60955950	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872126	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7682431	0.81[ASN][1000 genomes]
rs9991039	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89745000-89770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:89745000-89775000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:89745200-89776200	Weak transcription	Aorta	Aorta
4	chr4:89749000-89769600	Weak transcription	K562	blood
5	chr4:89752000-89778800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:89752800-89769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:89754600-89779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:89764400-89779400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:89764600-89769800	Weak transcription	NH-A	brain
10	chr4:89764800-89769200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:89765000-89773200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:89765000-89779400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:89765000-89780400	Weak transcription	Ovary	ovary
14	chr4:89765000-89780600	Weak transcription	Left Ventricle	heart
15	chr4:89765200-89778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:89765200-89780400	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:89765400-89770600	Weak transcription	Placenta	Placenta
18	chr4:89765400-89780400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:89765400-89780800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:89765800-89770000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:89766000-89773400	Weak transcription	Gastric	stomach
22	chr4:89766000-89780400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:89767400-89769400	Enhancers	HepG2	liver
24	chr4:89767600-89779800	Weak transcription	Fetal Stomach	stomach
25	chr4:89767800-89773000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:89767800-89775800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:89767800-89777600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:89767800-89779600	Weak transcription	Adipose Nuclei	Adipose
29	chr4:89767800-89780400	Weak transcription	Fetal Kidney	kidney
30	chr4:89767800-89780800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:89768000-89771400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:89768000-89775400	Weak transcription	Hela-S3	cervix
33	chr4:89768000-89779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:89768600-89772600	Weak transcription	Fetal Intestine Large	intestine
35	chr4:89768800-89789400	Weak transcription	Fetal Intestine Small	intestine

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