Variant report

Variant	rs2524389
Chromosome Location	chr12:120675449-120675450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120631699..120641379-chr12:120675218..120683260,16	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
5	chr12:120675377..120678015-chr12:120698703..120700333,2	K562	blood:

Variant related genes	Relation type
ENSG00000255857	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089154	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10128770	1.00[ASW][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs11065033	0.87[YRI][hapmap]
rs11065038	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[YRI][hapmap]
rs11065052	0.88[AFR][1000 genomes]
rs1151823	0.81[AFR][1000 genomes]
rs1151826	0.95[AFR][1000 genomes]
rs1151828	1.00[ASW][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1151829	0.83[AMR][1000 genomes]
rs1151831	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1151834	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1166788	0.92[AFR][1000 genomes]
rs12298976	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12319440	0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs1634820	1.00[ASW][hapmap];0.81[LWK][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs1732868	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2701642	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957942	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS 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	484 gene(s)	inside rSNPs	diseases
5	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
6	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120664400-120675800	Enhancers	Stomach Mucosa	stomach
2	chr12:120665200-120692000	Enhancers	Placenta	Placenta
3	chr12:120665400-120676800	Enhancers	Fetal Heart	heart
4	chr12:120665400-120682200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:120665600-120682200	Enhancers	Left Ventricle	heart
6	chr12:120666000-120677200	Enhancers	Lung	lung
7	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:120669200-120676200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:120669400-120677400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:120669400-120677800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:120669600-120675600	Weak transcription	Ovary	ovary
12	chr12:120669600-120676800	Enhancers	K562	blood
13	chr12:120669800-120675600	Enhancers	NHDF-Ad	bronchial
14	chr12:120669800-120675800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:120669800-120677000	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:120669800-120678000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:120669800-120679400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:120670000-120675800	Weak transcription	Aorta	Aorta
20	chr12:120671000-120675600	Enhancers	HUVEC	blood vessel
21	chr12:120671000-120675800	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:120671200-120677200	Enhancers	Esophagus	oesophagus
23	chr12:120671800-120677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:120671800-120682800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:120672000-120676800	Enhancers	Small Intestine	intestine
26	chr12:120672000-120677000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:120672000-120677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:120672200-120680400	Enhancers	Fetal Thymus	thymus
29	chr12:120672400-120676800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:120672600-120677000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:120672800-120677000	Genic enhancers	Fetal Intestine Small	intestine
32	chr12:120673000-120675600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:120673200-120676800	Enhancers	NH-A	brain
34	chr12:120673400-120676000	Weak transcription	Fetal Brain Male	brain
35	chr12:120673400-120676800	Enhancers	Right Atrium	heart
36	chr12:120673400-120679000	Enhancers	Spleen	Spleen
37	chr12:120673600-120675800	Enhancers	Fetal Muscle Leg	muscle
38	chr12:120673800-120676600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:120673800-120676800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:120673800-120676800	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:120673800-120677000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:120673800-120679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:120673800-120682800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:120674000-120675600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:120674000-120675800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:120674000-120676400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:120674000-120677000	Enhancers	Brain Anterior Caudate	brain
48	chr12:120674000-120678000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:120674000-120678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:120674000-120679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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