Variant report

Variant	rs34123018
Chromosome Location	chr4:74452237-74452238
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: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10000698	0.83[AFR][1000 genomes]
rs10004505	0.90[ASN][1000 genomes]
rs10011419	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10019146	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10019320	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10020054	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10021827	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10029673	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10034509	0.88[AFR][1000 genomes]
rs10518115	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1074085	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1247593	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1247651	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247668	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247670	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247671	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12503916	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12505842	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12506668	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12506675	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12507775	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12508661	0.98[EUR][1000 genomes]
rs13115877	0.95[ASN][1000 genomes]
rs13133747	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13144296	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13144390	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1528915	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1528916	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1528917	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1528918	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849628	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849629	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849651	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849656	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849659	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849675	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849677	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16849727	0.95[ASN][1000 genomes]
rs17192413	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805623	0.97[EUR][1000 genomes]
rs2008288	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2204736	0.87[EUR][1000 genomes]
rs28407399	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28450939	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28533985	0.84[AFR][1000 genomes]
rs28612539	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28651748	0.91[AFR][1000 genomes]
rs28658027	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28693538	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34773614	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34832471	0.88[EUR][1000 genomes]
rs34859660	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35988516	0.86[EUR][1000 genomes]
rs3756073	0.85[EUR][1000 genomes]
rs4694170	0.81[EUR][1000 genomes]
rs4694626	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68145475	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6837506	0.95[ASN][1000 genomes]
rs6838329	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72649103	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7665563	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7665972	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7667019	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7667185	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7674913	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7676850	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7676870	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7676884	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7682201	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7687216	0.85[EUR][1000 genomes]
rs7695792	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7695946	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696502	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9995788	0.86[AFR][1000 genomes]
rs9999939	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][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: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	chr4:74451000-74452800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:74451000-74455400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:74451200-74454800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:74451200-74454800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:74451200-74454800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:74451200-74456200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:74451200-74457200	Weak transcription	Thymus	Thymus
27	chr4:74451400-74452400	Enhancers	NHEK	skin
28	chr4:74451800-74452400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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