Variant report

Variant	rs57122143
Chromosome Location	chr22:30220560-30220561
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30218800..30221141-chr22:30232734..30234943,2	MCF-7	breast:
2	chr22:30218166..30221158-chr22:30224343..30226322,2	K562	blood:
3	chr22:30153529..30155692-chr22:30219778..30222690,2	K562	blood:

Variant related genes	Relation type
ENSG00000200976	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1071962	0.92[ASN][1000 genomes]
rs12158466	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12159277	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12627866	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12628028	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628234	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12628294	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12628545	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14115	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16987142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16988049	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17711461	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17711508	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018808	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240364	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240365	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2240366	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs249399	1.00[ASN][1000 genomes]
rs249402	0.92[ASN][1000 genomes]
rs28730892	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58015017	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59394320	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5997518	0.92[EUR][1000 genomes]
rs5997519	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997520	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5997524	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006241	0.87[EUR][1000 genomes]
rs6006242	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6006247	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6006249	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6006250	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6006262	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60102307	0.81[EUR][1000 genomes]
rs60805530	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61616383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61736786	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7285660	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285800	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287777	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7289250	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73392899	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73394814	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394831	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394838	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737721	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs737728	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs740116	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8138165	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
3	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
4	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
5	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr22:30195400-30222000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:30195400-30222200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:30196400-30221200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:30197000-30222200	Strong transcription	Dnd41	blood
19	chr22:30199200-30222000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:30205800-30222000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr22:30206000-30221800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:30206000-30221800	Strong transcription	Brain Anterior Caudate	brain
24	chr22:30208800-30231000	Strong transcription	Brain Germinal Matrix	brain
25	chr22:30208800-30231200	Strong transcription	Lung	lung
26	chr22:30208800-30233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:30209000-30227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:30209800-30233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:30212400-30221800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:30212400-30221800	Strong transcription	Brain Hippocampus Middle	brain
31	chr22:30212400-30222000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:30212400-30222000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr22:30213000-30221800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:30213000-30222000	Strong transcription	Ovary	ovary
35	chr22:30213400-30221800	Strong transcription	HSMMtube	muscle
36	chr22:30213600-30223200	Weak transcription	Esophagus	oesophagus
37	chr22:30213600-30226000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr22:30214600-30221600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr22:30214600-30221600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr22:30215000-30230800	Strong transcription	Fetal Brain Female	brain
41	chr22:30215200-30221600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:30215200-30233200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:30215400-30221600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr22:30215600-30221600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:30216400-30226200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr22:30216600-30221800	Strong transcription	Brain Cingulate Gyrus	brain
47	chr22:30216800-30221400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:30216800-30221800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:30217000-30222000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr22:30217000-30222000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links