Variant report

Variant	rs3747153
Chromosome Location	chr22:31673111-31673112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31667497..31670495-chr22:31671096..31674566,4	K562	blood:
2	chr22:31657582..31659264-chr22:31672801..31675797,2	MCF-7	breast:
3	chr22:31671882..31673528-chr22:31684555..31686967,2	K562	blood:
4	chr22:31670705..31674081-chr22:31684491..31687873,4	MCF-7	breast:
5	chr22:31670909..31673998-chr22:31741262..31743913,3	MCF-7	breast:
6	chr22:31671882..31674678-chr22:31684555..31687561,3	K562	blood:
7	chr22:31671853..31673887-chr22:31677470..31679780,2	MCF-7	breast:
8	chr22:31670893..31672907-chr22:31673053..31674567,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213888	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10483159	1.00[EUR][1000 genomes]
rs11089493	0.91[ASN][1000 genomes]
rs11089501	1.00[EUR][1000 genomes]
rs11089502	1.00[EUR][1000 genomes]
rs11089503	1.00[EUR][1000 genomes]
rs11089504	1.00[EUR][1000 genomes]
rs12165685	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12168242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12484282	0.81[ASN][1000 genomes]
rs12484775	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12484966	1.00[EUR][1000 genomes]
rs12485176	1.00[EUR][1000 genomes]
rs12485177	1.00[EUR][1000 genomes]
rs17220418	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17820958	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17821132	1.00[EUR][1000 genomes]
rs1859677	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1968024	1.00[EUR][1000 genomes]
rs2073856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073861	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158779	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240424	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240427	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2267168	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273248	1.00[EUR][1000 genomes]
rs2283882	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28678535	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28872513	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3747154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747155	1.00[EUR][1000 genomes]
rs3788434	1.00[EUR][1000 genomes]
rs4293639	0.86[ASN][1000 genomes]
rs5749225	0.85[ASN][1000 genomes]
rs5749230	0.93[ASN][1000 genomes]
rs5749233	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749235	0.93[ASN][1000 genomes]
rs5749236	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749239	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749240	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749241	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5749247	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749255	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5749257	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs5749258	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749262	1.00[EUR][1000 genomes]
rs5749263	1.00[EUR][1000 genomes]
rs5753485	0.83[ASN][1000 genomes]
rs5753494	0.84[ASN][1000 genomes]
rs5753502	0.86[ASN][1000 genomes]
rs5753506	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753509	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753511	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753512	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753513	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753516	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753519	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753523	0.92[ASN][1000 genomes]
rs5753525	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753526	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753527	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753529	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753532	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753540	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753542	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5753554	0.87[ASN][1000 genomes]
rs5753555	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753556	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753561	0.92[ASN][1000 genomes]
rs5753566	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753569	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753571	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753572	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753574	0.81[ASN][1000 genomes]
rs57775002	0.80[ASN][1000 genomes]
rs58856347	1.00[EUR][1000 genomes]
rs59416609	1.00[EUR][1000 genomes]
rs5994386	0.86[ASN][1000 genomes]
rs5997921	0.90[ASN][1000 genomes]
rs713619	0.85[ASN][1000 genomes]
rs7286926	0.88[ASN][1000 genomes]
rs7292620	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73396257	1.00[EUR][1000 genomes]
rs9619178	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9621212	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9621215	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621220	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9621226	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9621236	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9621247	1.00[EUR][1000 genomes]
rs9621252	1.00[EUR][1000 genomes]
rs9621261	1.00[EUR][1000 genomes]
rs9621264	1.00[EUR][1000 genomes]
rs9621265	1.00[EUR][1000 genomes]
rs9621270	1.00[EUR][1000 genomes]
rs9680708	0.81[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	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
5	esv3375680	chr22:31671802-31673700	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv962787	chr22:31672944-31674328	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:31650200-31675600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:31650600-31676400	Weak transcription	Hela-S3	cervix
5	chr22:31651800-31675800	Strong transcription	HMEC	breast
6	chr22:31652800-31675800	Strong transcription	NHEK	skin
7	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:31653800-31676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:31654000-31676400	Strong transcription	Thymus	Thymus
10	chr22:31654000-31680400	Strong transcription	Lung	lung
11	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
12	chr22:31654200-31677200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:31655400-31680800	Weak transcription	K562	blood
17	chr22:31656800-31674000	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31657800-31681200	Strong transcription	Adipose Nuclei	Adipose
19	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
20	chr22:31659400-31678600	Strong transcription	Fetal Muscle Leg	muscle
21	chr22:31661400-31677800	Weak transcription	A549	lung
22	chr22:31661600-31673800	Strong transcription	Fetal Thymus	thymus
23	chr22:31661600-31674200	Strong transcription	Liver	Liver
24	chr22:31661800-31677000	Strong transcription	Spleen	Spleen
25	chr22:31661800-31677600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31665600-31679400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:31665800-31678800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr22:31666000-31682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:31666000-31684200	Strong transcription	Aorta	Aorta
30	chr22:31666200-31675200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:31667000-31676200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr22:31667000-31676400	Strong transcription	Fetal Lung	lung
33	chr22:31667000-31684600	Weak transcription	Right Atrium	heart
34	chr22:31667400-31676800	Strong transcription	Osteobl	bone
35	chr22:31667400-31677200	Strong transcription	Dnd41	blood
36	chr22:31668000-31673400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr22:31668000-31675000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:31668400-31674000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:31668400-31681200	Strong transcription	NHLF	lung
40	chr22:31668600-31674400	Strong transcription	NHDF-Ad	bronchial
41	chr22:31668800-31675400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:31668800-31680400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:31669000-31675800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:31669000-31676000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr22:31669000-31676200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr22:31669000-31676600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:31669000-31678800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:31669000-31679400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:31669000-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:31669000-31680400	Strong transcription	Brain Anterior Caudate	brain

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