Variant report

Variant	rs1973268
Chromosome Location	chr12:30323342-30323343
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10771647	0.83[AMR][1000 genomes]
rs10771648	0.83[AMR][1000 genomes]
rs10843627	0.84[AMR][1000 genomes]
rs11613048	0.89[EUR][1000 genomes]
rs12810698	0.91[EUR][1000 genomes]
rs12826253	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552344	0.83[ASN][1000 genomes]
rs2351210	0.81[AMR][1000 genomes]
rs2351211	0.81[AMR][1000 genomes]
rs4244851	0.84[AMR][1000 genomes]
rs4931271	0.84[AMR][1000 genomes]
rs6487881	0.84[AMR][1000 genomes]
rs6487883	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6487885	0.93[EUR][1000 genomes]
rs72640154	0.84[AMR][1000 genomes]
rs7296068	0.84[AMR][1000 genomes]
rs7297032	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310880	0.82[AMR][1000 genomes]
rs7966500	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050757	chr12:30288879-30329142	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1035561	chr12:30288879-30336486	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30322400-30323600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:30322400-30323800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:30322600-30323600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:30322600-30323600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:30322600-30323800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:30322600-30323800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:30322800-30323400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:30322800-30323600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:30322800-30323600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:30322800-30323600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr12:30322800-30323600	Bivalent Enhancer	Lung	lung
12	chr12:30322800-30323600	Enhancers	Pancreas	Pancrea
13	chr12:30322800-30323800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr12:30322800-30323800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:30323000-30323400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:30323000-30323400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:30323000-30323400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
18	chr12:30323000-30323400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr12:30323000-30323400	Bivalent Enhancer	Esophagus	oesophagus
20	chr12:30323000-30323400	Active TSS	Right Atrium	heart
21	chr12:30323000-30323600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:30323000-30323600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:30323000-30323600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr12:30323000-30323600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr12:30323200-30323400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:30323200-30323400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:30323200-30323400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:30323200-30323400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:30323200-30323400	Bivalent Enhancer	Fetal Brain Male	brain
30	chr12:30323200-30323400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
31	chr12:30323200-30323400	Bivalent Enhancer	Fetal Heart	heart
32	chr12:30323200-30323400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr12:30323200-30323400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
34	chr12:30323200-30323600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:30323200-30323600	Bivalent Enhancer	Psoas Muscle	Psoas

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