Variant report

Variant	rs1247659
Chromosome Location	chr4:74452851-74452852
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	chr4:74442868..74445735-chr4:74451381..74454006,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10004505	0.84[AMR][1000 genomes]
rs10009048	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011536	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938088	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11728915	0.85[AMR][1000 genomes]
rs11729144	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13115877	0.90[AMR][1000 genomes]
rs13135124	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13149172	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569207	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16849727	0.90[AMR][1000 genomes]
rs1745300	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28838047	0.85[AMR][1000 genomes]
rs62312137	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837506	0.89[AMR][1000 genomes]
rs997478	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997572	0.85[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792624	chr4:74437054-74453857	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
4	nsv822617	chr4:74452623-74453333	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:74440200-74455200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:74440200-74457400	Weak transcription	Pancreas	Pancrea
4	chr4:74440200-74472600	Weak transcription	Gastric	stomach
5	chr4:74441200-74464800	Weak transcription	Placenta	Placenta
6	chr4:74443600-74455400	Weak transcription	Stomach Mucosa	stomach
7	chr4:74446200-74456000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:74447000-74456000	Strong transcription	Fetal Thymus	thymus
9	chr4:74447600-74455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:74447600-74463400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:74448800-74456000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:74449000-74470200	Weak transcription	Primary T cells from cord blood	blood
13	chr4:74449800-74454800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:74449800-74455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:74449800-74461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:74450200-74453400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:74450200-74455200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:74450600-74455000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:74450800-74454800	Weak transcription	HMEC	breast
20	chr4:74451000-74455400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:74451200-74454800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:74451200-74454800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:74451200-74454800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:74451200-74456200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:74451200-74457200	Weak transcription	Thymus	Thymus
26	chr4:74452400-74454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:74452400-74454600	Weak transcription	NHEK	skin
28	chr4:74452800-74454000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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