Variant report

Variant	rs7956221
Chromosome Location	chr12:120552692-120552693
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
2	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
3	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
4	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
5	chr12:120550994..120553800-chr12:120627908..120629484,2	K562	blood:
6	chr12:120551430..120553069-chr12:120632996..120634781,2	MCF-7	breast:
7	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
8	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
9	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
10	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
11	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
12	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1054631	1.00[ASN][1000 genomes]
rs16949854	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16949862	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16949870	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16949914	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286041	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613380	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105460	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56152568	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56939014	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57155388	1.00[ASN][1000 genomes]
rs57339959	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57458743	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59868595	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59911114	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60106911	1.00[ASN][1000 genomes]
rs60223336	1.00[ASN][1000 genomes]
rs60590470	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60742518	0.85[EUR][1000 genomes]
rs61514727	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490279	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6490282	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132099	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139151	1.00[ASN][1000 genomes]
rs7297564	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298081	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304560	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957325	0.89[AMR][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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active 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	99 gene(s)	inside rSNPs	diseases
3	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
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
3	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:120540000-120553000	Weak transcription	HSMMtube	muscle
5	chr12:120541800-120552800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:120541800-120552800	Weak transcription	NH-A	brain
7	chr12:120542200-120553000	Weak transcription	Aorta	Aorta
8	chr12:120543000-120552800	Weak transcription	Osteobl	bone
9	chr12:120543400-120553000	Weak transcription	Fetal Heart	heart
10	chr12:120543400-120553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:120544000-120552800	Weak transcription	Colonic Mucosa	Colon
12	chr12:120544400-120552800	Weak transcription	NHDF-Ad	bronchial
13	chr12:120544400-120553200	Strong transcription	Fetal Intestine Small	intestine
14	chr12:120545400-120552800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:120546400-120552800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:120546600-120553200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:120548000-120552800	Weak transcription	Psoas Muscle	Psoas
18	chr12:120548600-120552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120548600-120553000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:120548800-120552800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:120548800-120553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:120549000-120552800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:120549000-120552800	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:120549200-120553000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:120549200-120553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:120549200-120553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:120549600-120553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:120549800-120552800	Weak transcription	Right Ventricle	heart
29	chr12:120549800-120553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:120550000-120553000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:120550800-120553000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:120551000-120552800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:120551000-120552800	Strong transcription	Thymus	Thymus
34	chr12:120551000-120552800	Strong transcription	HSMM	muscle
35	chr12:120551000-120552800	Strong transcription	NHLF	lung
36	chr12:120551200-120552800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:120551200-120552800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:120551200-120552800	Strong transcription	Fetal Intestine Large	intestine
39	chr12:120551200-120553000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:120551200-120553000	Strong transcription	A549	lung
41	chr12:120551200-120553800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:120551400-120552800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:120551600-120552800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:120551600-120552800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:120551600-120552800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:120551600-120552800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:120551600-120552800	Strong transcription	NHEK	skin
48	chr12:120551600-120553000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr12:120551600-120553000	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr12:120551600-120553400	Genic enhancers	Fetal Thymus	thymus

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