Variant report

Variant	rs28733443
Chromosome Location	chr4:48678387-48678388
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	chr4:48674728..48678488-chr4:48678619..48683185,5	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10049761	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10938537	0.83[EUR][1000 genomes]
rs11728565	0.83[EUR][1000 genomes]
rs11737677	0.83[EUR][1000 genomes]
rs11939889	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11943219	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12506098	0.84[EUR][1000 genomes]
rs12645501	0.81[EUR][1000 genomes]
rs13113370	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13119414	0.82[EUR][1000 genomes]
rs13119504	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507865	0.86[EUR][1000 genomes]
rs1702798	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1712767	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1712768	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1712772	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17656040	0.85[EUR][1000 genomes]
rs17656076	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17656094	0.84[EUR][1000 genomes]
rs1876469	0.81[EUR][1000 genomes]
rs1980193	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2176460	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2354312	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2354314	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2940324	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2945330	0.82[EUR][1000 genomes]
rs3107022	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34635008	0.86[EUR][1000 genomes]
rs4536901	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4695391	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4695397	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4695400	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4695401	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57797824	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59686413	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62309747	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62311296	0.83[EUR][1000 genomes]
rs6447640	0.81[EUR][1000 genomes]
rs6447651	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6447655	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6811148	0.83[EUR][1000 genomes]
rs6818954	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6829716	0.81[EUR][1000 genomes]
rs6830078	0.80[EUR][1000 genomes]
rs6830848	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6855022	0.84[EUR][1000 genomes]
rs7654770	0.81[EUR][1000 genomes]
rs7657332	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7657698	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7667288	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7670939	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7680280	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7681070	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7682859	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7697522	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs776584	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776588	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs776590	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs776591	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs776601	0.86[EUR][1000 genomes]
rs796555	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs937888	0.85[EUR][1000 genomes]
rs937889	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs955683	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9790336	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28733443	OCIAD1	Cis_1M	lymphoblastoid	RTeQTL
rs28733443	SLC10A4	cis	lung	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:48657400-48686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:48657600-48688600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:48663600-48700200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:48664400-48683200	Weak transcription	Ovary	ovary
11	chr4:48666400-48683200	Weak transcription	Pancreas	Pancrea
12	chr4:48666600-48685600	Weak transcription	Dnd41	blood
13	chr4:48666600-48686800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:48668200-48683000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:48668200-48686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:48668200-48688000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:48668200-48689400	Weak transcription	HSMM	muscle
18	chr4:48669400-48683000	Weak transcription	Primary T cells from cord blood	blood
19	chr4:48670000-48691000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:48670200-48700000	Weak transcription	Esophagus	oesophagus
21	chr4:48670200-48702000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:48670200-48702000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:48670400-48696000	Weak transcription	Left Ventricle	heart
24	chr4:48670600-48679600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:48670800-48683000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:48671000-48680000	Weak transcription	Small Intestine	intestine
27	chr4:48671000-48683000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:48671200-48685400	Weak transcription	Fetal Thymus	thymus
29	chr4:48671200-48688600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:48671400-48682800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:48671400-48683000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:48671400-48683200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:48671400-48685800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:48671400-48686200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:48671400-48686400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:48671400-48696000	Weak transcription	Right Ventricle	heart
37	chr4:48671600-48685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:48672000-48681400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:48672200-48686400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:48673000-48686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:48674800-48689600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:48674800-48689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:48675000-48685800	Weak transcription	Primary B cells from cord blood	blood
44	chr4:48675000-48688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:48676000-48681000	Weak transcription	Stomach Mucosa	stomach
46	chr4:48677000-48678800	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr4:48677000-48686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:48677200-48681000	Weak transcription	Right Atrium	heart
49	chr4:48677200-48683800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:48677400-48678400	Weak transcription	Rectal Mucosa Donor 29	rectum

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