Variant report

Variant	rs5749235
Chromosome Location	chr22:31605847-31605848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31598041..31601034-chr22:31604196..31606916,2	K562	blood:
2	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
3	chr22:31603379..31605401-chr22:31605552..31607393,2	K562	blood:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11089493	0.88[ASN][1000 genomes]
rs12168242	0.93[ASN][1000 genomes]
rs12169794	1.00[EUR][1000 genomes]
rs12484282	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12484646	1.00[EUR][1000 genomes]
rs12484775	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12485004	1.00[EUR][1000 genomes]
rs17220418	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17820958	0.81[ASN][1000 genomes]
rs2073856	0.94[ASN][1000 genomes]
rs2073859	0.91[ASN][1000 genomes]
rs2073860	0.91[ASN][1000 genomes]
rs2073861	0.91[ASN][1000 genomes]
rs2158779	0.85[ASN][1000 genomes]
rs2240424	0.82[ASN][1000 genomes]
rs2240427	0.85[ASN][1000 genomes]
rs2267168	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2283882	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2295240	1.00[EUR][1000 genomes]
rs28678535	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28872513	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3747153	0.93[ASN][1000 genomes]
rs3747154	0.93[ASN][1000 genomes]
rs3827331	1.00[EUR][1000 genomes]
rs4293639	0.81[ASN][1000 genomes]
rs4364102	1.00[EUR][1000 genomes]
rs5749219	0.81[ASN][1000 genomes]
rs5749225	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749230	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749233	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5749236	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5749239	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5749240	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5749241	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749247	0.92[ASN][1000 genomes]
rs5749252	0.86[ASN][1000 genomes]
rs5749255	0.86[ASN][1000 genomes]
rs5749257	0.82[ASN][1000 genomes]
rs5753485	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753494	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5753502	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753506	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753509	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5753511	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753512	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5753513	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753516	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5753519	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5753523	0.89[ASN][1000 genomes]
rs5753525	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753526	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753527	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753529	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753532	0.94[ASN][1000 genomes]
rs5753534	0.93[ASN][1000 genomes]
rs5753535	0.92[ASN][1000 genomes]
rs5753540	0.92[ASN][1000 genomes]
rs5753542	0.92[ASN][1000 genomes]
rs5753554	0.81[ASN][1000 genomes]
rs5753555	0.87[ASN][1000 genomes]
rs5753556	0.87[ASN][1000 genomes]
rs5753561	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753566	0.85[ASN][1000 genomes]
rs5753569	0.83[ASN][1000 genomes]
rs5753571	0.81[ASN][1000 genomes]
rs5753574	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57775002	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58659480	1.00[EUR][1000 genomes]
rs58915086	1.00[EUR][1000 genomes]
rs5994386	0.81[ASN][1000 genomes]
rs5997921	0.90[ASN][1000 genomes]
rs7286926	0.83[ASN][1000 genomes]
rs7292620	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9619178	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9621212	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9621215	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9621220	0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9621226	0.92[ASN][1000 genomes]
rs9621236	0.85[ASN][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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
4	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:31576000-31607800	Weak transcription	A549	lung
6	chr22:31579200-31607400	Weak transcription	K562	blood
7	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31588200-31606600	Strong transcription	Fetal Stomach	stomach
11	chr22:31588600-31606400	Strong transcription	Fetal Intestine Small	intestine
12	chr22:31589000-31607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:31592000-31607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:31592800-31606000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:31593000-31607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:31593200-31607600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:31595800-31606000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:31596600-31606400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:31596600-31607600	Weak transcription	Fetal Kidney	kidney
20	chr22:31598400-31606600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr22:31598400-31606800	Weak transcription	GM12878-XiMat	blood
22	chr22:31598400-31607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:31598400-31607600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:31598400-31607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:31598600-31606600	Weak transcription	Primary B cells from cord blood	blood
26	chr22:31598600-31607800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:31598800-31607600	Weak transcription	Pancreas	Pancrea
28	chr22:31599200-31606200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr22:31599400-31606400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr22:31599400-31606600	Weak transcription	Colonic Mucosa	Colon
31	chr22:31599600-31606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:31599600-31607400	Weak transcription	Brain Angular Gyrus	brain
33	chr22:31599600-31607400	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:31599600-31607600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:31599600-31607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:31599600-31607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:31599600-31607600	Weak transcription	NH-A	brain
38	chr22:31599600-31607800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:31599800-31606600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr22:31599800-31607800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr22:31600000-31607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:31600000-31607800	Weak transcription	Ovary	ovary
43	chr22:31600800-31606000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:31600800-31607000	Weak transcription	Dnd41	blood
45	chr22:31601200-31606400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:31601400-31607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:31601600-31607600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:31601800-31607600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:31601800-31607600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:31601800-31607600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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