Variant report

Variant	rs11705446
Chromosome Location	chr22:29780812-29780813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29704896..29707829-chr22:29780262..29782390,2	MCF-7	breast:
2	chr22:29780492..29782846-chr22:29865528..29867159,2	MCF-7	breast:
3	chr22:29774954..29777707-chr22:29779123..29781815,2	K562	blood:
4	chr22:29770782..29772689-chr22:29780811..29782872,2	K562	blood:
5	chr22:29701440..29703925-chr22:29779026..29781003,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11702906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703897	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704551	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140064	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs174760	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs174772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894414	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2857464	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34680030	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823033	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997460	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7285200	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8140836	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8141229	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
10	nsv459868	chr22:29767925-29807855	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv459869	chr22:29767925-29807855	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv588882	chr22:29767925-29807855	Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
14	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
2	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:29755200-29781000	Weak transcription	Fetal Brain Male	brain
4	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
6	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
7	chr22:29756000-29783800	Weak transcription	Ovary	ovary
8	chr22:29756400-29782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:29765400-29782600	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:29765400-29783600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:29765600-29783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:29765600-29783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29765800-29782800	Weak transcription	NHDF-Ad	bronchial
14	chr22:29766200-29783600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:29767200-29783600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:29767400-29783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:29767400-29783600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:29768000-29783600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:29768000-29783800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:29769200-29783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:29770400-29782600	Strong transcription	Primary T cells from cord blood	blood
22	chr22:29772400-29783000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:29772600-29781400	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:29772600-29782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:29772600-29783400	Weak transcription	HSMMtube	muscle
26	chr22:29772800-29782800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr22:29773600-29783600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:29773600-29783600	Weak transcription	HSMM	muscle
29	chr22:29774000-29781400	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr22:29774000-29783600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:29774200-29782000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:29774200-29783000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:29774200-29783600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:29774200-29784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr22:29774400-29781200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29774600-29782200	Weak transcription	Psoas Muscle	Psoas
37	chr22:29775400-29781600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr22:29776200-29782000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr22:29776400-29783600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:29776800-29782800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr22:29777000-29781600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:29777000-29782200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr22:29777000-29782800	Weak transcription	Esophagus	oesophagus
44	chr22:29777000-29783400	Weak transcription	Right Atrium	heart
45	chr22:29777000-29783600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:29777200-29782200	Weak transcription	HMEC	breast
47	chr22:29777400-29781200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:29777600-29781600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:29777600-29782000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:29777800-29781600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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