Variant report

Variant	rs7955203
Chromosome Location	chr12:123042642-123042643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123010389..123015880-chr12:123040231..123043851,6	K562	blood:

Variant related genes	Relation type
ENSG00000184445	Chromatin interaction
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10734924	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744275	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10744287	0.89[ASN][1000 genomes]
rs10773208	0.80[ASN][1000 genomes]
rs10773302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773394	0.91[ASN][1000 genomes]
rs10847179	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847242	0.88[ASN][1000 genomes]
rs10998	0.83[ASN][1000 genomes]
rs11058402	0.80[ASN][1000 genomes]
rs1392236	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473553	0.82[ASN][1000 genomes]
rs2062506	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2173628	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2342082	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3803005	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4319547	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61954972	0.83[EUR][1000 genomes]
rs61954973	0.83[EUR][1000 genomes]
rs6416298	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6489071	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489156	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6489157	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6489158	0.91[ASN][1000 genomes]
rs6489159	0.84[EUR][1000 genomes]
rs7295105	0.93[ASN][1000 genomes]
rs7295397	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307233	0.93[ASN][1000 genomes]
rs7307735	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7309390	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7314638	0.80[ASN][1000 genomes]
rs7316149	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7316734	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7397990	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954006	0.93[ASN][1000 genomes]
rs7959238	0.93[ASN][1000 genomes]
rs7966094	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972728	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9705654	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9988963	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][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	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
4	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
5	chr12:123012600-123066200	Weak transcription	Psoas Muscle	Psoas
6	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:123012800-123065800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:123013000-123076400	Weak transcription	Right Ventricle	heart
11	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:123013200-123045800	Strong transcription	Fetal Thymus	thymus
13	chr12:123013200-123050000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
18	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:123013800-123050000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:123015400-123079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:123015600-123115000	Strong transcription	Dnd41	blood
24	chr12:123017000-123045600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:123017200-123043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:123018200-123045000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:123018600-123049600	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr12:123022200-123084600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:123022600-123113800	Weak transcription	Colonic Mucosa	Colon
30	chr12:123025000-123043800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:123025000-123045000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:123025400-123049800	Strong transcription	A549	lung
33	chr12:123026000-123076400	Weak transcription	Gastric	stomach
34	chr12:123026000-123081000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:123027000-123045600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:123028600-123064400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:123029200-123044000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:123029200-123085000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:123029200-123107600	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:123029800-123045600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:123029800-123052800	Strong transcription	Fetal Stomach	stomach
42	chr12:123030400-123043000	Weak transcription	HSMMtube	muscle
43	chr12:123031400-123045000	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:123031800-123043000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:123032200-123054400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:123032400-123058000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:123032600-123095400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:123033400-123067000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:123034200-123043800	Strong transcription	K562	blood
50	chr12:123036000-123045600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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