Variant report

Variant	rs73302664
Chromosome Location	chr12:48128896-48128897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48099097..48101413-chr12:48126525..48129411,2	K562	blood:
2	chr12:48128880..48137705-chr12:48169546..48175532,12	K562	blood:
3	chr12:48126373..48130503-chr12:48131382..48133997,3	K562	blood:
4	chr12:48121475..48125710-chr12:48127578..48130124,5	MCF-7	breast:
5	chr12:48125664..48127471-chr12:48127761..48129880,2	MCF-7	breast:
6	chr12:48128198..48129902-chr12:48141442..48143473,2	MCF-7	breast:
7	chr12:48127396..48130262-chr12:48213853..48215540,2	K562	blood:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000079337	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1859256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57162394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57691959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58232701	1.00[AFR][1000 genomes]
rs58237186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58280987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58348653	1.00[AMR][1000 genomes]
rs58350284	1.00[AMR][1000 genomes]
rs58636268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59421933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60045275	1.00[AMR][1000 genomes]
rs60186089	0.86[AFR][1000 genomes]
rs60608560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61033936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61288073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61327127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61446607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61734364	1.00[AMR][1000 genomes]
rs61739888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7308032	0.94[AFR][1000 genomes]
rs7314320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300649	1.00[AMR][1000 genomes]
rs73300689	1.00[AMR][1000 genomes]
rs73300701	1.00[AMR][1000 genomes]
rs73302603	1.00[AMR][1000 genomes]
rs73302628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302698	0.92[AFR][1000 genomes]
rs757283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7965816	1.00[AMR][1000 genomes]
rs877196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs877197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs877198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9738787	1.00[AMR][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	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48114000-48134400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr12:48114200-48132600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:48115600-48133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:48115600-48134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:48115600-48135000	Weak transcription	Primary T cells from cord blood	blood
6	chr12:48116200-48134000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:48116800-48130200	Weak transcription	Aorta	Aorta
8	chr12:48117000-48129000	Weak transcription	Psoas Muscle	Psoas
9	chr12:48124200-48130000	Weak transcription	Liver	Liver
10	chr12:48124400-48129000	Weak transcription	Gastric	stomach
11	chr12:48124400-48129600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:48124600-48130000	Weak transcription	K562	blood
13	chr12:48124800-48129400	Weak transcription	NHLF	lung
14	chr12:48124800-48130000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:48125400-48129600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr12:48125400-48132200	Enhancers	Fetal Muscle Leg	muscle
17	chr12:48125600-48129000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:48125600-48129600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:48125600-48130800	Enhancers	Brain Hippocampus Middle	brain
20	chr12:48125600-48132200	Enhancers	Brain Substantia Nigra	brain
21	chr12:48125800-48129200	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:48125800-48130000	Enhancers	Adipose Nuclei	Adipose
23	chr12:48126000-48129200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:48126800-48132400	Enhancers	Brain Angular Gyrus	brain
25	chr12:48126800-48133400	Enhancers	Ovary	ovary
26	chr12:48127000-48134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:48127200-48129600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:48127400-48129600	Enhancers	Stomach Smooth Muscle	stomach
29	chr12:48127400-48129800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:48127400-48130000	Enhancers	Fetal Stomach	stomach
31	chr12:48127400-48130400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:48127600-48135800	Enhancers	Fetal Muscle Trunk	muscle
33	chr12:48128000-48129400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:48128000-48132000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:48128000-48132600	Enhancers	Brain Anterior Caudate	brain
36	chr12:48128200-48129000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:48128200-48129000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:48128200-48129200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:48128200-48129200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr12:48128200-48129400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:48128200-48129400	Enhancers	Fetal Brain Male	brain
42	chr12:48128200-48129600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:48128200-48129600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:48128200-48129800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:48128200-48129800	Enhancers	Colon Smooth Muscle	Colon
46	chr12:48128200-48130000	Enhancers	HSMMtube	muscle
47	chr12:48128200-48130200	Enhancers	Placenta	Placenta
48	chr12:48128200-48130400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:48128200-48130800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:48128200-48131000	Enhancers	Skeletal Muscle Female	skeletal muscle

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