Variant report

Variant	rs7970212
Chromosome Location	chr12:46271126-46271127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46121836..46124334-chr12:46269395..46271952,3	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10161510	0.81[AFR][1000 genomes]
rs10161536	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10506264	1.00[EUR][1000 genomes]
rs11183248	1.00[EUR][1000 genomes]
rs11574971	1.00[EUR][1000 genomes]
rs12298184	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12307979	1.00[EUR][1000 genomes]
rs1549591	1.00[EUR][1000 genomes]
rs15852	1.00[EUR][1000 genomes]
rs17096316	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61009645	1.00[EUR][1000 genomes]
rs6582580	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303119	0.82[AFR][1000 genomes]
rs7304785	1.00[EUR][1000 genomes]
rs7306774	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7310702	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74081279	1.00[EUR][1000 genomes]
rs74081280	1.00[EUR][1000 genomes]
rs74081611	1.00[EUR][1000 genomes]
rs7965539	1.00[EUR][1000 genomes]
rs7970367	1.00[EUR][1000 genomes]
rs7971936	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972499	1.00[EUR][1000 genomes]
rs7972650	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv558782	chr12:46254995-46286683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46242200-46272000	Weak transcription	Stomach Mucosa	stomach
2	chr12:46245400-46272800	Weak transcription	NHDF-Ad	bronchial
3	chr12:46245400-46318600	Weak transcription	Small Intestine	intestine
4	chr12:46245800-46271600	Weak transcription	HUVEC	blood vessel
5	chr12:46245800-46272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:46246000-46272600	Weak transcription	Fetal Heart	heart
7	chr12:46246000-46285400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:46246600-46274800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:46246600-46285400	Weak transcription	NH-A	brain
10	chr12:46246600-46285600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:46246600-46286000	Weak transcription	HMEC	breast
12	chr12:46246800-46288000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:46248000-46272600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:46248000-46275400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:46248000-46279400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:46248000-46279600	Weak transcription	Gastric	stomach
17	chr12:46249800-46273000	Weak transcription	Psoas Muscle	Psoas
18	chr12:46251800-46283400	Strong transcription	Fetal Thymus	thymus
19	chr12:46252400-46277400	Strong transcription	Dnd41	blood
20	chr12:46254800-46278600	Weak transcription	NHEK	skin
21	chr12:46259000-46316600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:46262200-46278400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:46265600-46271200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:46266000-46271400	Strong transcription	Primary T cells from cord blood	blood
25	chr12:46266200-46271200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:46266200-46271200	Strong transcription	Fetal Intestine Large	intestine
27	chr12:46266200-46271600	Strong transcription	Liver	Liver
28	chr12:46266400-46271200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:46266400-46271200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:46266400-46271200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr12:46266400-46271400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:46266600-46271800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:46266800-46271400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:46267200-46271200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:46267400-46271200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:46267400-46271200	Strong transcription	Thymus	Thymus
37	chr12:46267600-46271200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:46267600-46271200	Strong transcription	Aorta	Aorta
39	chr12:46267600-46271400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:46267800-46271200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:46267800-46271200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:46267800-46271200	Strong transcription	Fetal Brain Female	brain
43	chr12:46267800-46271200	Strong transcription	Ovary	ovary
44	chr12:46267800-46271400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:46267800-46271800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:46268000-46271800	Weak transcription	K562	blood
47	chr12:46268000-46272000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:46268000-46274600	Weak transcription	Lung	lung
49	chr12:46268400-46272400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:46268600-46271200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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