Variant report

Variant	rs7956642
Chromosome Location	chr12:22209859-22209860
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	MAFK	chr12:22209601-22209868	IMR90	lung:	n/a	chr12:22209727-22209742
2	MAFF	chr12:22209572-22209866	K562	blood:	n/a	chr12:22209726-22209744
3	MAFK	chr12:22209631-22209883	HepG2	liver:	n/a	chr12:22209727-22209742
4	MAFF	chr12:22209593-22209895	HepG2	liver:	n/a	chr12:22209726-22209744
5	MAFK	chr12:22209559-22209914	HepG2	liver:	n/a	chr12:22209727-22209742
6	MAFK	chr12:22209599-22209866	K562	blood:	n/a	chr12:22209727-22209742

No.	Distal block	Cell Line	Cell type
1	chr12:22198261..22201239-chr12:22208109..22210711,2	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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12423101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12423142	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424838	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12578369	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs12816385	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12818845	0.95[ASN][1000 genomes]
rs12827678	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2193379	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2418036	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487271	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487278	0.94[ASN][1000 genomes]
rs67339960	0.90[ASN][1000 genomes]
rs71448623	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300481	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7954234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969132	0.91[ASN][1000 genomes]
rs7978726	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[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	chr12:22200800-22210800	Weak transcription	Fetal Stomach	stomach
11	chr12:22200800-22220800	Weak transcription	Fetal Heart	heart
12	chr12:22201200-22211400	Weak transcription	Hela-S3	cervix
13	chr12:22201400-22220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:22201800-22219000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:22202000-22218000	Weak transcription	Psoas Muscle	Psoas
16	chr12:22202000-22219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:22202000-22220200	Weak transcription	Fetal Brain Male	brain
18	chr12:22202200-22217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:22202200-22218000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:22202200-22223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:22203800-22220200	Weak transcription	Esophagus	oesophagus
22	chr12:22203800-22220200	Weak transcription	Small Intestine	intestine
23	chr12:22203800-22235200	Weak transcription	Gastric	stomach
24	chr12:22204000-22215400	Weak transcription	Brain Angular Gyrus	brain
25	chr12:22204400-22215400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:22204600-22219400	Weak transcription	Stomach Mucosa	stomach
27	chr12:22204600-22223400	Weak transcription	Pancreas	Pancrea
28	chr12:22205200-22222200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:22207000-22218400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:22207000-22220200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:22207400-22210400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:22207600-22218800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:22207600-22219400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:22207800-22219000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:22208000-22210000	Strong transcription	Fetal Lung	lung
36	chr12:22208000-22210400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:22208000-22210400	Strong transcription	Colon Smooth Muscle	Colon
38	chr12:22208000-22210600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:22208000-22212400	Strong transcription	HMEC	breast
40	chr12:22208000-22212600	Strong transcription	Placenta	Placenta
41	chr12:22208000-22219600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:22208000-22219800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:22208000-22219800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:22208200-22210200	Strong transcription	NHDF-Ad	bronchial
45	chr12:22208200-22210400	Strong transcription	Adipose Nuclei	Adipose
46	chr12:22208200-22212800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:22208200-22216800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr12:22208200-22217000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:22208400-22210000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:22208400-22210200	Strong transcription	Primary hematopoietic stem cells	blood

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