Variant report

Variant	rs16997333
Chromosome Location	chr22:22069340-22069341
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22065172..22070463-chr22:22299725..22303847,7	K562	blood:
2	chr22:22067733..22069469-chr22:22300683..22303045,3	MCF-7	breast:
3	chr22:22063723..22066195-chr22:22067309..22069488,2	MCF-7	breast:
4	chr22:22067858..22070528-chr22:22306156..22308453,2	MCF-7	breast:
5	chr22:22064353..22070160-chr22:22219719..22223588,8	K562	blood:
6	chr22:22068417..22069978-chr22:22083536..22086410,2	MCF-7	breast:
7	chr22:22069048..22071193-chr22:22088822..22090347,2	MCF-7	breast:
8	chr22:22068744..22069431-chr22:22292648..22293567,2	K562	blood:
9	chr22:22068976..22070805-chr22:22338625..22340951,2	K562	blood:
10	chr22:22066145..22069858-chr22:22305918..22309346,5	K562	blood:
11	chr22:22020323..22023321-chr22:22067871..22070120,2	MCF-7	breast:
12	chr22:22067149..22069360-chr22:22080582..22081610,9	MCF-7	breast:
13	chr22:22068963..22071183-chr22:22300868..22303636,2	K562	blood:
14	chr22:22068438..22070039-chr22:29210552..29212059,2	MCF-7	breast:
15	chr22:22068063..22071011-chr22:22220404..22223159,4	K562	blood:
16	chr22:22062971..22069839-chr22:22290687..22296640,27	K562	blood:
17	chr22:22067689..22069822-chr22:22273194..22275247,2	K562	blood:
18	chr22:22065816..22069479-chr22:22082156..22085627,4	K562	blood:
19	chr22:22067300..22070154-chr22:22079698..22083393,3	MCF-7	breast:
20	chr22:22065133..22070504-chr22:22304213..22309346,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272858	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10009	0.86[JPT][hapmap]
rs1045681	1.00[JPT][hapmap];0.91[LWK][hapmap];0.86[YRI][hapmap]
rs108816	1.00[JPT][hapmap];0.97[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs11703445	1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs11912412	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11914240	0.87[ASW][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12170039	1.00[JPT][hapmap]
rs1860	0.86[LWK][hapmap]
rs3209602	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3747094	0.86[JPT][hapmap];0.91[LWK][hapmap];0.86[YRI][hapmap]
rs3788329	1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs55797610	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56108061	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5994840	0.88[CHB][hapmap]
rs62235106	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs710172	0.86[LWK][hapmap]
rs7285365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286932	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7291614	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs73149915	0.94[ASN][1000 genomes]
rs8139619	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142802	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs861813	1.00[JPT][hapmap]
rs915724	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
9	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
10	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
15	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs16997333	DERL3	cis	cerebellum	SCAN
rs16997333	PPIL2	cis	parietal	SCAN
rs16997333	GSTT1	cis	cerebellum	SCAN
rs16997333	SLC7A4	cis	parietal	SCAN
rs16997333	MMP11	cis	parietal	SCAN
rs16997333	POM121L4P	cis	parietal	SCAN
rs16997333	GSTT1	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22052000-22070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:22053600-22088800	Weak transcription	Aorta	Aorta
3	chr22:22056000-22080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr22:22057800-22088400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:22058200-22073400	Weak transcription	Lung	lung
6	chr22:22064800-22087400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:22065000-22072800	Weak transcription	Primary B cells from cord blood	blood
8	chr22:22065000-22076800	Weak transcription	Ovary	ovary
9	chr22:22065000-22080200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:22065000-22088400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr22:22065200-22088800	Weak transcription	Spleen	Spleen
12	chr22:22065600-22080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:22065600-22080800	Weak transcription	Primary T cells from cord blood	blood
14	chr22:22067200-22069600	Enhancers	Fetal Muscle Leg	muscle
15	chr22:22067400-22069400	Enhancers	HMEC	breast
16	chr22:22067400-22069800	Enhancers	Placenta	Placenta
17	chr22:22067600-22069400	Strong transcription	Dnd41	blood
18	chr22:22067600-22069400	Enhancers	NHLF	lung
19	chr22:22067600-22070400	Enhancers	Fetal Muscle Trunk	muscle
20	chr22:22067800-22069800	Enhancers	NHEK	skin
21	chr22:22067800-22070800	Weak transcription	NH-A	brain
22	chr22:22067800-22077000	Weak transcription	Fetal Thymus	thymus
23	chr22:22067800-22088400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr22:22068000-22069400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:22068000-22069400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:22068000-22071400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr22:22068000-22073200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr22:22068000-22073800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:22068000-22080000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr22:22068000-22081000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:22068000-22081000	Weak transcription	Brain Anterior Caudate	brain
32	chr22:22068000-22088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr22:22068000-22088800	Weak transcription	Fetal Lung	lung
34	chr22:22068200-22073200	Weak transcription	Brain Hippocampus Middle	brain
35	chr22:22068200-22074800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:22068400-22069400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:22068600-22069400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:22068600-22069400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr22:22068600-22069600	Bivalent Enhancer	HepG2	liver
40	chr22:22068600-22069800	Weak transcription	Right Ventricle	heart
41	chr22:22068600-22082400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr22:22068800-22069400	Strong transcription	Brain Germinal Matrix	brain
43	chr22:22068800-22069600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:22068800-22082000	Weak transcription	Fetal Brain Female	brain
45	chr22:22068800-22082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:22069000-22069400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:22069000-22069400	Bivalent Enhancer	K562	blood
48	chr22:22069000-22069600	Flanking Active TSS	Fetal Heart	heart
49	chr22:22069000-22073400	Weak transcription	Gastric	stomach
50	chr22:22069000-22077000	Weak transcription	Right Atrium	heart

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