Variant report

Variant	rs12330010
Chromosome Location	chr22:31482568-31482569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr22:31482482-31482763	K562	blood:	n/a	n/a
2	CTCF	chr22:31480072-31482631	SK-N-SH	brain:	n/a	chr22:31481340-31481350 chr22:31480917-31480930 chr22:31481338-31481354 chr22:31481339-31481352

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
2	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:
3	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
4	chr22:31479621..31482894-chr22:31624206..31627128,3	K562	blood:
5	chr22:31342107..31344742-chr22:31481093..31483316,2	K562	blood:
6	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
7	chr22:31288265..31290834-chr22:31482128..31484552,2	K562	blood:
8	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
9	chr22:31479652..31482728-chr22:31500685..31503831,4	MCF-7	breast:
10	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
11	chr22:31336067..31338299-chr22:31480944..31483823,2	MCF-7	breast:

No data

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000273387	TF binding region
ENSG00000198832	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000202019	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1004243	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11089487	0.84[AMR][1000 genomes]
rs11089488	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089489	0.86[AFR][1000 genomes]
rs11703403	0.86[AFR][1000 genomes]
rs11703478	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705137	0.88[AFR][1000 genomes]
rs12167220	0.88[AFR][1000 genomes]
rs12484046	0.84[EUR][1000 genomes]
rs13053329	0.88[AFR][1000 genomes]
rs13054770	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558023	0.87[EUR][1000 genomes]
rs1807739	0.88[AFR][1000 genomes]
rs2079429	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35413173	0.89[ASN][1000 genomes]
rs35657209	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35685997	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281997	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4820934	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4820938	0.82[AFR][1000 genomes]
rs4820939	0.84[AFR][1000 genomes]
rs4820940	0.88[AFR][1000 genomes]
rs4820941	0.88[AFR][1000 genomes]
rs62236159	0.89[ASN][1000 genomes]
rs7284108	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7284757	0.92[EUR][1000 genomes]
rs7285617	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs737930	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8135353	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137317	0.87[ASN][1000 genomes]
rs9619163	0.86[EUR][1000 genomes]
rs9621173	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9621178	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9621184	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621185	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621187	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9621188	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31478200-31483400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:31478400-31484000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31478400-31484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31478600-31483200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:31478800-31482600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:31481000-31484800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:31481200-31482600	Enhancers	Fetal Heart	heart
8	chr22:31481400-31482600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr22:31481400-31494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31481400-31494600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:31481600-31482600	Enhancers	A549	lung
12	chr22:31481600-31482800	Enhancers	HSMMtube	muscle
13	chr22:31481600-31482800	Enhancers	NHDF-Ad	bronchial
14	chr22:31481600-31483000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr22:31481600-31483000	Weak transcription	Thymus	Thymus
16	chr22:31481600-31483400	Weak transcription	Primary T cells from cord blood	blood
17	chr22:31481600-31483400	Enhancers	K562	blood
18	chr22:31481600-31483600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr22:31481600-31484000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
20	chr22:31481600-31486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:31481600-31487400	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr22:31481600-31488200	Weak transcription	Psoas Muscle	Psoas
23	chr22:31481600-31491800	Weak transcription	Small Intestine	intestine
24	chr22:31481600-31493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:31481800-31482600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:31481800-31482600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr22:31481800-31482600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:31481800-31482600	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:31481800-31482600	Enhancers	Right Atrium	heart
30	chr22:31481800-31482800	Enhancers	Brain Angular Gyrus	brain
31	chr22:31481800-31482800	Genic enhancers	Osteobl	bone
32	chr22:31481800-31483000	Genic enhancers	Fetal Intestine Large	intestine
33	chr22:31481800-31483200	Enhancers	Brain Anterior Caudate	brain
34	chr22:31481800-31483400	Genic enhancers	Fetal Intestine Small	intestine
35	chr22:31481800-31483600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:31481800-31483600	Weak transcription	Fetal Kidney	kidney
37	chr22:31481800-31483600	Weak transcription	Dnd41	blood
38	chr22:31481800-31483800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:31481800-31483800	Weak transcription	Fetal Brain Female	brain
40	chr22:31481800-31484000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:31481800-31484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:31481800-31485400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr22:31481800-31486200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:31481800-31486800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:31481800-31486800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr22:31481800-31487200	Genic enhancers	Placenta	Placenta
47	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr22:31482000-31482600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr22:31482000-31482600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr22:31482000-31482600	Enhancers	Brain Inferior Temporal Lobe	brain

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