Variant report

Variant	rs13135124
Chromosome Location	chr4:74443877-74443878
allele	A/C
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10004505	0.82[AMR][1000 genomes]
rs10009048	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10011536	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10938088	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11728915	0.87[AMR][1000 genomes]
rs11729144	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11943798	0.81[AMR][1000 genomes]
rs1247659	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13115877	0.90[AMR][1000 genomes]
rs13149172	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1569207	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16849727	0.90[AMR][1000 genomes]
rs1745300	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1919469	0.81[AMR][1000 genomes]
rs28838047	0.87[AMR][1000 genomes]
rs4574378	0.81[AMR][1000 genomes]
rs62312137	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6837506	0.89[AMR][1000 genomes]
rs997478	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9997572	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:74439000-74448400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:74439800-74448600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:74440200-74444600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:74440200-74447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:74440200-74447000	Weak transcription	Thymus	Thymus
7	chr4:74440200-74449000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:74440200-74449600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:74440200-74451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:74440200-74455200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:74440200-74457400	Weak transcription	Pancreas	Pancrea
12	chr4:74440200-74472600	Weak transcription	Gastric	stomach
13	chr4:74441200-74445000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:74441200-74464800	Weak transcription	Placenta	Placenta
15	chr4:74442200-74450200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:74442400-74447000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:74442600-74444800	Strong transcription	Fetal Thymus	thymus
18	chr4:74442600-74447000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:74442600-74449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:74442800-74448800	Weak transcription	HMEC	breast
21	chr4:74443000-74445400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:74443400-74447000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:74443600-74445600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:74443600-74455400	Weak transcription	Stomach Mucosa	stomach

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