Variant report

Variant	rs3729910
Chromosome Location	chr22:22162126-22162127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22160454..22162385-chr22:22220986..22222936,2	MCF-7	breast:
2	chr22:22137496..22139412-chr22:22161128..22163592,2	K562	blood:
3	chr22:22162010..22163594-chr22:22257433..22259936,2	K562	blood:
4	chr22:22125720..22128636-chr22:22161159..22162923,2	K562	blood:

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12159078	0.91[ASN][1000 genomes]
rs12167687	0.82[ASN][1000 genomes]
rs13058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17760000	0.91[ASN][1000 genomes]
rs17821423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099792	0.91[ASN][1000 genomes]
rs2266976	0.91[ASN][1000 genomes]
rs2298433	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876982	0.82[ASN][1000 genomes]
rs4821217	1.00[YRI][hapmap]
rs5994845	1.00[YRI][hapmap]
rs5995185	0.82[ASN][1000 genomes]
rs5995186	0.82[ASN][1000 genomes]
rs6000051	0.82[ASN][1000 genomes]
rs6000052	0.82[ASN][1000 genomes]
rs61757991	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61763370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763374	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738857	1.00[YRI][hapmap]
rs8136165	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8136204	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136610	0.82[ASN][1000 genomes]
rs8137156	0.82[ASN][1000 genomes]
rs8142618	0.82[ASN][1000 genomes]
rs8142827	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8143081	0.82[ASN][1000 genomes]
rs8143115	0.91[ASN][1000 genomes]
rs875344	0.91[ASN][1000 genomes]
rs915726	0.82[ASN][1000 genomes]
rs9622496	0.82[ASN][1000 genomes]
rs9754473	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
20	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
21	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
23	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	145 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	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
2	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
5	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
6	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
7	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr22:22134200-22162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:22135200-22162200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:22135800-22162400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:22135800-22162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:22135800-22162600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:22136000-22162400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:22137600-22162600	Strong transcription	Dnd41	blood
15	chr22:22139200-22172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:22141000-22162200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr22:22142800-22170600	Weak transcription	Colonic Mucosa	Colon
18	chr22:22145200-22162200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:22145800-22170600	Weak transcription	Small Intestine	intestine
20	chr22:22146400-22162200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:22147600-22162800	Strong transcription	K562	blood
22	chr22:22148000-22162200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr22:22149400-22162200	Strong transcription	Primary T cells from cord blood	blood
24	chr22:22149600-22162200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr22:22149600-22162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:22149600-22162600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:22149800-22162400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr22:22150400-22162200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:22150400-22162200	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr22:22150600-22162200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:22150600-22162200	Strong transcription	NHDF-Ad	bronchial
32	chr22:22150600-22162200	Strong transcription	Osteobl	bone
33	chr22:22150600-22162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:22150600-22162400	Strong transcription	Primary B cells from cord blood	blood
35	chr22:22150800-22162200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr22:22150800-22162200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:22150800-22162600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:22151200-22162200	Strong transcription	Thymus	Thymus
39	chr22:22151200-22162400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr22:22151800-22162400	Strong transcription	GM12878-XiMat	blood
41	chr22:22152600-22162600	Strong transcription	Adipose Nuclei	Adipose
42	chr22:22156600-22162600	Weak transcription	Fetal Brain Male	brain
43	chr22:22156800-22162200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:22157000-22162600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:22158800-22162200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:22159800-22162200	Strong transcription	HepG2	liver
47	chr22:22160000-22164800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:22160000-22167600	Weak transcription	Pancreas	Pancrea
49	chr22:22160000-22171600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:22160200-22164800	Weak transcription	Fetal Intestine Small	intestine

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