Variant report

Variant	rs4931547
Chromosome Location	chr12:31854264-31854265
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11051517	0.81[ASN][1000 genomes]
rs11051519	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11051527	0.91[ASN][1000 genomes]
rs11051534	0.91[ASN][1000 genomes]
rs11051535	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11051536	0.93[ASN][1000 genomes]
rs11051537	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051538	0.93[ASN][1000 genomes]
rs11051540	0.93[ASN][1000 genomes]
rs11051546	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11051547	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11051549	0.96[AMR][1000 genomes]
rs11051551	0.96[AMR][1000 genomes]
rs12231666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931536	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931538	0.91[ASN][1000 genomes]
rs4931545	0.92[ASN][1000 genomes]
rs4931546	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59091295	0.90[ASN][1000 genomes]
rs61932065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61932089	0.94[AMR][1000 genomes]
rs7308889	0.87[ASN][1000 genomes]
rs7959989	0.86[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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
3	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
6	chr12:31835800-31854800	Weak transcription	K562	blood
7	chr12:31836000-31857600	Weak transcription	A549	lung
8	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:31837200-31854400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:31837400-31854400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:31839600-31855000	Weak transcription	Spleen	Spleen
15	chr12:31839800-31871800	Weak transcription	Gastric	stomach
16	chr12:31840200-31858200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:31840200-31859600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:31840600-31854400	Weak transcription	Placenta	Placenta
20	chr12:31841200-31857800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:31841200-31860400	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:31841400-31856000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:31841600-31857200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:31841600-31860200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
26	chr12:31841800-31855800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:31842000-31860200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:31845600-31860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:31845800-31854600	Strong transcription	Fetal Thymus	thymus
31	chr12:31846200-31854600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:31846400-31854400	Weak transcription	Fetal Intestine Large	intestine
33	chr12:31846400-31860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:31846400-31860200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:31846400-31862400	Weak transcription	Aorta	Aorta
36	chr12:31846400-31871800	Weak transcription	Lung	lung
37	chr12:31846600-31860200	Weak transcription	Fetal Lung	lung
38	chr12:31847000-31857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:31847200-31857400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:31847800-31860200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:31847800-31860400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:31848200-31859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:31848600-31855200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:31848800-31855000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:31848800-31860200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:31849000-31855000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
48	chr12:31849200-31860200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:31849600-31855000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:31849600-31860800	Weak transcription	Colon Smooth Muscle	Colon

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