Variant report

Variant	rs73079401
Chromosome Location	chr12:21673794-21673795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21671832..21674785-chr12:21687913..21690095,2	K562	blood:
2	chr12:21654473..21659052-chr12:21670057..21674835,6	K562	blood:
3	chr12:21667585..21669254-chr12:21672387..21674128,2	K562	blood:

Variant related genes	Relation type
ENSG00000111711	Chromatin interaction
ENSG00000004700	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11831978	0.88[EUR][1000 genomes]
rs11836710	0.82[EUR][1000 genomes]
rs2080102	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080104	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2417993	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36230524	1.00[EUR][1000 genomes]
rs56256037	1.00[EUR][1000 genomes]
rs73071364	0.82[EUR][1000 genomes]
rs73071368	0.88[EUR][1000 genomes]
rs73071369	0.88[EUR][1000 genomes]
rs73071373	0.88[EUR][1000 genomes]
rs73071376	0.88[EUR][1000 genomes]
rs73071386	0.88[EUR][1000 genomes]
rs73071402	1.00[EUR][1000 genomes]
rs73079372	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73082690	0.82[EUR][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	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv528556	chr12:21664879-21680363	Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv557743	chr12:21670410-21688900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21655400-21674800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:21656000-21674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:21656000-21674600	Weak transcription	Fetal Kidney	kidney
4	chr12:21656200-21680000	Weak transcription	Right Ventricle	heart
5	chr12:21656400-21680200	Weak transcription	Aorta	Aorta
6	chr12:21656800-21680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:21657400-21680000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:21657600-21675000	Weak transcription	Small Intestine	intestine
9	chr12:21657600-21675400	Weak transcription	Fetal Brain Male	brain
10	chr12:21657600-21679800	Weak transcription	Pancreas	Pancrea
11	chr12:21657600-21680000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:21657600-21680400	Weak transcription	Gastric	stomach
13	chr12:21661400-21677200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:21666000-21680200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:21666800-21675800	Weak transcription	HepG2	liver
16	chr12:21666800-21676800	Weak transcription	Fetal Brain Female	brain
17	chr12:21666800-21679800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:21666800-21680000	Weak transcription	Psoas Muscle	Psoas
19	chr12:21666800-21680200	Weak transcription	Colonic Mucosa	Colon
20	chr12:21666800-21680400	Weak transcription	Spleen	Spleen
21	chr12:21667000-21674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:21667000-21674400	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:21667000-21675000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:21667000-21680200	Weak transcription	Left Ventricle	heart
25	chr12:21667000-21680200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:21667000-21680200	Weak transcription	HSMMtube	muscle
27	chr12:21667200-21678000	Weak transcription	Lung	lung
28	chr12:21667200-21680000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:21667200-21680000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:21667200-21680000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:21667600-21680000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:21667600-21680200	Weak transcription	NHLF	lung
33	chr12:21669200-21675400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:21669200-21680000	Weak transcription	HMEC	breast
35	chr12:21669400-21675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:21669400-21678200	Weak transcription	A549	lung
37	chr12:21669400-21678800	Weak transcription	Hela-S3	cervix
38	chr12:21669400-21679000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:21669400-21680200	Weak transcription	Placenta	Placenta
40	chr12:21669600-21674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:21669600-21675000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:21669600-21676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:21669800-21674200	Weak transcription	K562	blood
44	chr12:21669800-21678000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:21669800-21679800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:21670000-21675600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:21670000-21676600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:21670000-21678000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:21670200-21676400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:21670200-21680000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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