Variant report

Variant	rs5749287
Chromosome Location	chr22:31901195-31901196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31895644..31897585-chr22:31899488..31902230,2	K562	blood:
2	chr22:31892433..31894421-chr22:31898516..31901632,3	K562	blood:
3	chr22:31884404..31886896-chr22:31898271..31902090,3	MCF-7	breast:
4	chr22:31895925..31897585-chr22:31899327..31902230,2	K562	blood:

Variant related genes	Relation type
ENSG00000198089	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11089512	0.86[ASN][1000 genomes]
rs11089514	0.87[ASN][1000 genomes]
rs11089515	0.87[ASN][1000 genomes]
rs12484606	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13056823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1543416	0.87[EUR][1000 genomes]
rs2024747	0.89[ASN][1000 genomes]
rs2413053	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3818134	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4535154	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820976	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4820978	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820979	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4820980	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4820981	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4820982	0.87[EUR][1000 genomes]
rs4820983	0.87[EUR][1000 genomes]
rs5749293	0.87[ASN][1000 genomes]
rs5749297	0.86[ASN][1000 genomes]
rs5753647	0.85[ASN][1000 genomes]
rs5753650	0.85[ASN][1000 genomes]
rs5753657	0.87[ASN][1000 genomes]
rs5753667	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753675	0.86[ASN][1000 genomes]
rs5753677	0.87[ASN][1000 genomes]
rs5753680	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753681	0.87[ASN][1000 genomes]
rs5753684	0.92[ASN][1000 genomes]
rs5753687	0.83[ASN][1000 genomes]
rs5753690	0.81[ASN][1000 genomes]
rs5753691	0.81[ASN][1000 genomes]
rs59285943	0.90[ASN][1000 genomes]
rs5998011	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5998016	0.85[AFR][1000 genomes]
rs5998032	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5998035	0.84[EUR][1000 genomes]
rs7288464	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs738656	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9306266	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv3334530	chr22:31889221-31909085	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1059314	chr22:31893613-31936088	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv914978	chr22:31897795-31942770	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31893000-31905200	Weak transcription	Aorta	Aorta
2	chr22:31893200-31903600	Weak transcription	Left Ventricle	heart
3	chr22:31893200-31912200	Weak transcription	Small Intestine	intestine
4	chr22:31893200-31934800	Weak transcription	Ovary	ovary
5	chr22:31893400-31905200	Weak transcription	Fetal Intestine Large	intestine
6	chr22:31893400-31907200	Weak transcription	Fetal Intestine Small	intestine
7	chr22:31893400-31909000	Weak transcription	Liver	Liver
8	chr22:31893400-31920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31893400-31971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:31893600-31904600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:31893600-31904600	Weak transcription	A549	lung
12	chr22:31893600-31904800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:31893600-31907000	Weak transcription	Lung	lung
14	chr22:31893600-31909000	Weak transcription	Fetal Brain Male	brain
15	chr22:31893600-31925600	Weak transcription	Gastric	stomach
16	chr22:31893600-31926200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:31893600-31928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:31893600-31934800	Weak transcription	Pancreas	Pancrea
19	chr22:31893600-31946600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:31893600-31970000	Weak transcription	Colonic Mucosa	Colon
21	chr22:31893800-31904800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr22:31893800-31907000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:31893800-31907400	Weak transcription	Right Ventricle	heart
24	chr22:31893800-31913400	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:31893800-31914600	Weak transcription	HepG2	liver
26	chr22:31893800-31921800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr22:31893800-31924600	Weak transcription	Adipose Nuclei	Adipose
28	chr22:31893800-31924600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr22:31893800-31925200	Weak transcription	Brain Hippocampus Middle	brain
30	chr22:31893800-31925400	Weak transcription	Brain Angular Gyrus	brain
31	chr22:31893800-31925600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr22:31893800-31926400	Weak transcription	Fetal Lung	lung
33	chr22:31893800-31927000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:31893800-31934800	Weak transcription	HMEC	breast
35	chr22:31893800-31945600	Weak transcription	Brain Anterior Caudate	brain
36	chr22:31894000-31902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:31894000-31903200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr22:31894000-31903200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:31894000-31904600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr22:31894000-31904800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr22:31894000-31905200	Weak transcription	Thymus	Thymus
42	chr22:31894000-31913200	Weak transcription	K562	blood
43	chr22:31894000-31926400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:31894000-31946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:31894000-31946600	Weak transcription	Fetal Brain Female	brain
46	chr22:31894400-31907200	Weak transcription	Fetal Stomach	stomach
47	chr22:31894400-31913600	Weak transcription	Primary B cells from cord blood	blood
48	chr22:31895200-31906200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:31895400-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:31895600-31904800	Weak transcription	Fetal Thymus	thymus

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