Variant report

Variant	rs2238156
Chromosome Location	chr12:120694788-120694789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120694717..120696414-chr12:120727839..120730825,2	K562	blood:
2	chr12:120692902..120700386-chr12:120700764..120704596,11	K562	blood:
3	chr12:120637449..120640321-chr12:120692742..120694999,3	K562	blood:
4	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
5	chr12:120667395..120670172-chr12:120693899..120695468,2	K562	blood:
6	chr12:120690570..120692197-chr12:120693845..120695408,2	K562	blood:

Variant related genes	Relation type
ENSG00000255857	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10849739	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065061	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065064	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151824	0.98[EUR][1000 genomes]
rs1151825	0.98[EUR][1000 genomes]
rs1151827	0.98[EUR][1000 genomes]
rs1151830	0.94[EUR][1000 genomes]
rs1151832	0.98[EUR][1000 genomes]
rs1151837	0.98[EUR][1000 genomes]
rs1182860	0.98[EUR][1000 genomes]
rs11831552	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1183781	0.98[EUR][1000 genomes]
rs12164847	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12305146	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12308431	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12321884	0.84[AMR][1000 genomes]
rs12581983	0.86[AMR][1000 genomes]
rs1634814	0.98[EUR][1000 genomes]
rs1634815	0.98[EUR][1000 genomes]
rs2006194	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2238157	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239208	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283364	0.84[AMR][1000 genomes]
rs2283365	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2524391	0.95[EUR][1000 genomes]
rs3759397	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3888587	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3888588	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3890165	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3956833	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767886	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61198412	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300273	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs739809	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7953949	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7966099	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
2	chr12:120683200-120694800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
4	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:120686600-120695000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120688000-120695200	Weak transcription	Gastric	stomach
7	chr12:120688200-120694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:120688200-120695000	Weak transcription	Liver	Liver
9	chr12:120688400-120694800	Weak transcription	Esophagus	oesophagus
10	chr12:120688600-120700200	Weak transcription	Fetal Kidney	kidney
11	chr12:120690400-120694800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:120690400-120695000	Weak transcription	Small Intestine	intestine
13	chr12:120690400-120695200	Weak transcription	HSMMtube	muscle
14	chr12:120690400-120697800	Weak transcription	Colonic Mucosa	Colon
15	chr12:120690400-120700400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:120690600-120694800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:120690600-120694800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:120690600-120694800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:120690600-120695200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:120691000-120695200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:120691600-120696200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:120691600-120699800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:120691800-120699800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:120692000-120695000	Weak transcription	Placenta	Placenta
25	chr12:120692200-120697400	Enhancers	Adipose Nuclei	Adipose
26	chr12:120692400-120697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:120692400-120700000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:120692600-120695000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:120692800-120694800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:120692800-120695200	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr12:120692800-120696400	Enhancers	Left Ventricle	heart
32	chr12:120692800-120697400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:120693000-120695000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:120693000-120698000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:120693200-120694800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:120693200-120695000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:120693200-120695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:120693200-120696400	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:120693200-120698400	Enhancers	HUVEC	blood vessel
40	chr12:120693200-120699600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr12:120693200-120699600	Weak transcription	Fetal Thymus	thymus
42	chr12:120693200-120700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:120693200-120700000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:120693200-120700000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:120693200-120700800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:120693400-120695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:120693400-120699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:120693800-120694800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:120694000-120694800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:120694000-120694800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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