Variant report

Variant	rs73930372
Chromosome Location	chr2:39094458-39094459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:39094285-39094523	MCF-7	breast:	n/a	chr2:39094406-39094417
2	CEBPB	chr2:39094251-39094536	HepG2	liver:	n/a	chr2:39094406-39094417
3	CEBPB	chr2:39094168-39094506	MCF-7	breast:	n/a	chr2:39094406-39094417
4	FOS	chr2:39093988-39094469	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:39093967-39094464	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:39089505..39093700-chr2:39094409..39098372,5	K562	blood:
2	chr2:39086851..39091387-chr2:39094171..39096771,4	K562	blood:
3	chr2:39088675..39091170-chr2:39093044..39095216,2	MCF-7	breast:
4	chr2:39094395..39096056-chr2:39119130..39121663,2	K562	blood:
5	chr2:39092323..39097069-chr2:39100019..39103136,5	MCF-7	breast:

Variant related genes	Relation type
DHX57	TF binding region
ENSG00000225284	Chromatin interaction
ENSG00000188010	Chromatin interaction
ENSG00000163214	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2373466	1.00[ASN][1000 genomes]
rs2373472	1.00[ASN][1000 genomes]
rs3112155	0.83[AMR][1000 genomes]
rs58645810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59788371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61393528	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930373	1.00[AMR][1000 genomes]
rs73930374	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7605183	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	143 gene(s)	inside rSNPs	diseases
2	nsv2692	chr2:39065768-39111871	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39038800-39095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:39038800-39102200	Weak transcription	Gastric	stomach
3	chr2:39039000-39101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
5	chr2:39072200-39095400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:39080000-39102200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:39081200-39102200	Weak transcription	Right Ventricle	heart
8	chr2:39081200-39102200	Weak transcription	Spleen	Spleen
9	chr2:39081200-39102400	Weak transcription	Pancreas	Pancrea
10	chr2:39086400-39101800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:39087600-39095400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:39088200-39102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:39089200-39101800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:39089200-39101800	Weak transcription	Fetal Heart	heart
15	chr2:39089400-39094600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:39089400-39095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:39089400-39101200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:39089400-39102000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:39089400-39102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:39089400-39102200	Weak transcription	Ovary	ovary
21	chr2:39089400-39102200	Weak transcription	Small Intestine	intestine
22	chr2:39089600-39094600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:39089600-39101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:39089600-39102000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:39089600-39102000	Weak transcription	NHLF	lung
26	chr2:39089600-39102400	Weak transcription	Lung	lung
27	chr2:39089800-39097200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:39089800-39101800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:39090000-39102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:39090000-39102000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:39090200-39094600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:39090200-39101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:39090200-39102400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:39090400-39099400	Weak transcription	K562	blood
35	chr2:39090600-39097200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:39090600-39101800	Weak transcription	HUVEC	blood vessel
37	chr2:39090600-39101800	Weak transcription	Osteobl	bone
38	chr2:39090600-39102000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:39090600-39102000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:39090600-39102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:39090800-39094600	Weak transcription	Left Ventricle	heart
42	chr2:39090800-39102000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:39090800-39102000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:39090800-39102000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:39090800-39102000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:39090800-39102000	Weak transcription	Adipose Nuclei	Adipose
47	chr2:39090800-39102000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:39090800-39102000	Weak transcription	HSMMtube	muscle
49	chr2:39090800-39102000	Weak transcription	NHDF-Ad	bronchial
50	chr2:39091800-39095000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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