Variant report

Variant	rs5755040
Chromosome Location	chr22:22111900-22111901
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22105462..22113416-chr22:22219449..22224505,14	K562	blood:
2	chr22:22108974..22111937-chr22:22177165..22178956,2	K562	blood:
3	chr22:22111218..22112797-chr22:22262465..22264445,2	K562	blood:
4	chr22:22087745..22091288-chr22:22108991..22112172,3	MCF-7	breast:
5	chr22:22110435..22112750-chr22:22276025..22277904,2	K562	blood:
6	chr22:22109453..22112191-chr22:22307233..22308989,2	K562	blood:
7	chr22:22104264..22113416-chr22:22217620..22224505,20	K562	blood:

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction
ENSG00000100027	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11089745	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11703350	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11703624	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11704433	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704597	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12172215	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12172286	0.82[EUR][1000 genomes]
rs12172360	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13054366	1.00[CEU][hapmap]
rs13058633	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13515	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17820162	0.80[AMR][1000 genomes]
rs2040167	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2040168	1.00[AFR][1000 genomes]
rs2070507	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2073415	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2083564	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2266968	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2276005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2298434	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3827303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4820146	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4821263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4821336	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4821367	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4821369	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4821371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4821401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749769	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs5749779	0.94[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749792	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749984	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5754916	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5754927	0.93[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5754932	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5754944	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5754947	1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5754958	0.88[ASN][1000 genomes]
rs5754968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5755008	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5755074	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5755745	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs5755978	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap]
rs5755996	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs5756076	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs61757967	1.00[AFR][1000 genomes]
rs71314794	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9607209	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9607210	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9607274	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9607286	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9607385	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs9610174	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9610181	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9610199	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9610219	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9610228	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9610355	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9610574	1.00[CEU][hapmap];0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
18	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic 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 target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22090800-22115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:22091000-22112600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr22:22091000-22116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:22092800-22115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:22098400-22117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:22103000-22115400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:22103400-22112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:22104800-22112400	Weak transcription	Dnd41	blood
9	chr22:22105400-22112600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:22105800-22118000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr22:22106000-22112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:22109000-22112600	Weak transcription	Colonic Mucosa	Colon
13	chr22:22109200-22112400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:22109200-22115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:22109400-22125800	Weak transcription	Small Intestine	intestine
16	chr22:22109600-22112400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:22109600-22112600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr22:22109600-22112600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:22109600-22112800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:22109800-22112400	Weak transcription	Brain Germinal Matrix	brain
21	chr22:22109800-22112800	Weak transcription	Fetal Brain Female	brain
22	chr22:22109800-22114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:22109800-22115000	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:22109800-22115400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr22:22109800-22115600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:22109800-22117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:22110000-22112600	Weak transcription	Brain Angular Gyrus	brain
28	chr22:22110000-22112600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr22:22110000-22113400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr22:22110000-22113600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:22110000-22117200	Weak transcription	Psoas Muscle	Psoas
32	chr22:22110200-22112600	Weak transcription	Brain Substantia Nigra	brain
33	chr22:22110200-22112600	Weak transcription	Placenta	Placenta
34	chr22:22110200-22113000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr22:22110200-22122600	Weak transcription	Fetal Brain Male	brain
36	chr22:22110400-22112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:22110400-22112600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr22:22110400-22112600	Weak transcription	Ovary	ovary
39	chr22:22110400-22112800	Weak transcription	Adipose Nuclei	Adipose
40	chr22:22110400-22112800	Weak transcription	Fetal Intestine Large	intestine
41	chr22:22110400-22112800	Weak transcription	Gastric	stomach
42	chr22:22110400-22112800	Weak transcription	Right Atrium	heart
43	chr22:22110400-22113000	Weak transcription	HMEC	breast
44	chr22:22110400-22114200	Strong transcription	Right Ventricle	heart
45	chr22:22110400-22117400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:22110400-22123600	Strong transcription	Primary B cells from cord blood	blood
47	chr22:22110600-22112000	Genic enhancers	K562	blood
48	chr22:22110600-22112600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:22110600-22112800	Genic enhancers	Fetal Muscle Leg	muscle
50	chr22:22110600-22113800	Strong transcription	A549	lung

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