Variant report

Variant	rs61921546
Chromosome Location	chr12:22211008-22211009
allele	A/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	EGR1	chr12:22210832-22211161	K562	blood:	n/a	n/a
2	EGR1	chr12:22210903-22211126	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:22207097..22209005-chr12:22210262..22212255,2	K562	blood:
2	chr12:22198387..22201385-chr12:22209134..22211301,2	K562	blood:
3	chr12:22199607..22203065-chr12:22209223..22212376,4	MCF-7	breast:
4	chr12:22208985..22211876-chr12:22213406..22216314,4	K562	blood:

Variant related genes	Relation type
CMAS	TF binding region
ENSG00000111726	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10841929	0.82[ASN][1000 genomes]
rs10841931	0.82[ASN][1000 genomes]
rs10841932	0.82[ASN][1000 genomes]
rs10841933	0.82[ASN][1000 genomes]
rs2216296	0.82[ASN][1000 genomes]
rs2418037	0.82[ASN][1000 genomes]
rs2955515	0.82[ASN][1000 genomes]
rs2970800	0.82[ASN][1000 genomes]
rs6487272	0.82[ASN][1000 genomes]
rs6487273	0.82[ASN][1000 genomes]
rs7316854	0.82[ASN][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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22200000-22214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:22200000-22218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:22200000-22220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:22200000-22220200	Weak transcription	Lung	lung
5	chr12:22200200-22215200	Weak transcription	HSMMtube	muscle
6	chr12:22200200-22215800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:22200200-22219600	Weak transcription	Aorta	Aorta
8	chr12:22200400-22216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:22200400-22220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:22200800-22220800	Weak transcription	Fetal Heart	heart
11	chr12:22201200-22211400	Weak transcription	Hela-S3	cervix
12	chr12:22201400-22220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:22201800-22219000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:22202000-22218000	Weak transcription	Psoas Muscle	Psoas
15	chr12:22202000-22219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:22202000-22220200	Weak transcription	Fetal Brain Male	brain
17	chr12:22202200-22217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:22202200-22218000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:22202200-22223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:22203800-22220200	Weak transcription	Esophagus	oesophagus
21	chr12:22203800-22220200	Weak transcription	Small Intestine	intestine
22	chr12:22203800-22235200	Weak transcription	Gastric	stomach
23	chr12:22204000-22215400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:22204400-22215400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:22204600-22219400	Weak transcription	Stomach Mucosa	stomach
26	chr12:22204600-22223400	Weak transcription	Pancreas	Pancrea
27	chr12:22205200-22222200	Weak transcription	Fetal Intestine Small	intestine
28	chr12:22207000-22218400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:22207000-22220200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:22207600-22218800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:22207600-22219400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:22207800-22219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:22208000-22212400	Strong transcription	HMEC	breast
34	chr12:22208000-22212600	Strong transcription	Placenta	Placenta
35	chr12:22208000-22219600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:22208000-22219800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:22208000-22219800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:22208200-22212800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:22208200-22216800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:22208200-22217000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:22208400-22212000	Strong transcription	Brain Anterior Caudate	brain
42	chr12:22208400-22212000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:22208400-22212400	Strong transcription	Osteobl	bone
44	chr12:22208400-22212600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:22208400-22212600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:22208400-22212600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:22208400-22214400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:22208400-22216200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:22208400-22216200	Strong transcription	Fetal Thymus	thymus
50	chr12:22208400-22219600	Strong transcription	Rectal Mucosa Donor 31	rectum

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