Variant report

Variant	rs174760
Chromosome Location	chr22:29700536-29700537
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29661955..29666922-chr22:29700529..29704114,10	K562	blood:
2	chr22:29660929..29666447-chr22:29700529..29705135,9	K562	blood:

Variant related genes	Relation type
ENSG00000100263	Chromatin interaction
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11702906	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11703897	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11704551	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs11705446	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs131184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs131190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs140064	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs140065	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs174768	1.00[JPT][hapmap]
rs174772	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1894414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2231398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs2518683	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2857460	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2857464	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34680030	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4823033	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997460	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7285200	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8140836	0.86[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	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
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	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
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr22:29670600-29702400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:29692600-29702000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:29695400-29702000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29695600-29701200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:29695600-29702000	Weak transcription	Fetal Kidney	kidney
6	chr22:29695800-29701400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29695800-29702200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:29696000-29702000	Weak transcription	Psoas Muscle	Psoas
9	chr22:29696000-29702000	Weak transcription	HUVEC	blood vessel
10	chr22:29696200-29702000	Weak transcription	GM12878-XiMat	blood
11	chr22:29696200-29702400	Weak transcription	Aorta	Aorta
12	chr22:29696600-29701400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:29696600-29702000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:29697000-29701000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr22:29697000-29701200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:29697000-29701400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:29697000-29701400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:29697000-29701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:29697000-29702000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:29697000-29702000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:29697000-29702000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:29697000-29702000	Weak transcription	Fetal Lung	lung
23	chr22:29697000-29702000	Weak transcription	NHEK	skin
24	chr22:29697200-29701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29697200-29702000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr22:29697200-29702000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:29697200-29702000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:29697200-29702000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:29697200-29702000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:29697200-29702000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:29697200-29702000	Weak transcription	NH-A	brain
32	chr22:29697200-29702000	Weak transcription	NHDF-Ad	bronchial
33	chr22:29697200-29702000	Weak transcription	Osteobl	bone
34	chr22:29697200-29702200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:29697200-29702600	Weak transcription	Small Intestine	intestine
36	chr22:29697400-29702000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:29697400-29702000	Weak transcription	Dnd41	blood
38	chr22:29697400-29702000	Weak transcription	HMEC	breast
39	chr22:29697400-29702400	Weak transcription	NHLF	lung
40	chr22:29697600-29701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:29697600-29701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:29697800-29701200	Weak transcription	Fetal Thymus	thymus
43	chr22:29697800-29702000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:29697800-29702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:29698000-29700600	Weak transcription	Primary B cells from cord blood	blood
46	chr22:29698000-29702000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:29698000-29702000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr22:29698000-29702000	Weak transcription	Esophagus	oesophagus
49	chr22:29698200-29701400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:29698200-29702000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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