Variant report

Variant	rs12032738
Chromosome Location	chr1:220325137-220325138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220322576..220325762-chr1:220328423..220332016,4	K562	blood:
2	chr1:220324262..220326114-chr1:220329198..220331900,2	K562	blood:
3	chr1:220323753..220325549-chr2:43453479..43455067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152518	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10127631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1039206	1.00[YRI][hapmap]
rs10863539	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11118501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11118509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1124763	1.00[YRI][hapmap]
rs12022336	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12025326	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12025702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12026270	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12031256	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12032536	0.87[ASN][1000 genomes]
rs12033612	0.87[ASN][1000 genomes]
rs12037712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039349	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12043920	0.87[ASN][1000 genomes]
rs12045447	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12086760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17007107	1.00[YRI][hapmap]
rs17007135	0.83[YRI][hapmap]
rs17007139	1.00[YRI][hapmap]
rs2577161	1.00[CEU][hapmap]
rs3820455	1.00[YRI][hapmap]
rs56357312	0.87[ASN][1000 genomes]
rs59935950	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6690426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73098540	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73098550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73098551	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73098553	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73098567	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73098569	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73098579	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs874331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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 miRNA target site	744 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	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220296000-220327600	Weak transcription	Colonic Mucosa	Colon
4	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
5	chr1:220303800-220331600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:220304800-220335600	Strong transcription	Placenta	Placenta
7	chr1:220305400-220331800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:220305400-220347000	Strong transcription	Dnd41	blood
9	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:220306600-220336600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:220308400-220327600	Weak transcription	Aorta	Aorta
16	chr1:220308400-220329600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:220308400-220339600	Weak transcription	Psoas Muscle	Psoas
18	chr1:220310600-220327600	Weak transcription	Spleen	Spleen
19	chr1:220311200-220330600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:220311200-220343400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:220311400-220330200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:220311400-220331000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:220311600-220335000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:220312000-220331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:220312200-220347400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:220313000-220327600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:220313200-220328600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:220314800-220325600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:220315200-220327400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:220315200-220327600	Weak transcription	Right Ventricle	heart
31	chr1:220315400-220325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:220315400-220326600	Weak transcription	Fetal Brain Male	brain
33	chr1:220315400-220327600	Weak transcription	Brain Angular Gyrus	brain
34	chr1:220315800-220325400	Weak transcription	Lung	lung
35	chr1:220315800-220325800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:220318600-220335400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:220318800-220330600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:220319000-220330000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:220319000-220341400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:220319400-220327400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:220319400-220327600	Weak transcription	Hela-S3	cervix
42	chr1:220319400-220329600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:220319600-220329800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:220319800-220325800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:220319800-220329200	Weak transcription	Esophagus	oesophagus
46	chr1:220320200-220325400	Strong transcription	K562	blood
47	chr1:220320400-220331200	Strong transcription	NHDF-Ad	bronchial
48	chr1:220320400-220341800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:220320600-220336600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:220320800-220331600	Strong transcription	NHLF	lung

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