Variant report

Variant	rs35172905
Chromosome Location	chr12:12424141-12424142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12420270..12422598-chr12:12424124..12428048,6	K562	blood:
2	chr12:12418368..12422296-chr12:12423665..12427518,5	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1071994	0.93[ASN][1000 genomes]
rs10845503	0.93[ASN][1000 genomes]
rs10845506	0.93[ASN][1000 genomes]
rs11054736	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11054738	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11054741	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11611108	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1181332	0.81[EUR][1000 genomes]
rs1181334	0.81[EUR][1000 genomes]
rs12372237	0.81[EUR][1000 genomes]
rs12816278	0.81[AMR][1000 genomes]
rs12817910	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12820350	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12823867	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34201398	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56084505	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7954168	0.93[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12420800-12425600	Weak transcription	HSMM	muscle
2	chr12:12421000-12425200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:12421000-12425200	Weak transcription	NHDF-Ad	bronchial
4	chr12:12421000-12425200	Weak transcription	Osteobl	bone
5	chr12:12421000-12425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:12421000-12425600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:12421000-12425600	Weak transcription	NHLF	lung
8	chr12:12421000-12425800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:12421000-12425800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:12421000-12425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:12421000-12425800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:12421000-12425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:12421000-12425800	Weak transcription	NH-A	brain
14	chr12:12421000-12426000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:12421000-12426000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:12421200-12425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:12421200-12425600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:12421200-12425600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:12421200-12425600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:12421200-12425800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:12421200-12425800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:12421200-12425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:12421200-12425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:12421200-12425800	Weak transcription	Fetal Kidney	kidney
26	chr12:12421200-12425800	Weak transcription	Fetal Lung	lung
27	chr12:12421200-12425800	Weak transcription	HMEC	breast
28	chr12:12421200-12426000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:12421200-12428800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:12421400-12425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:12421400-12425800	Weak transcription	Hela-S3	cervix
32	chr12:12421400-12426000	Weak transcription	HepG2	liver
33	chr12:12421400-12426400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:12421600-12426000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:12423600-12424200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:12423600-12424200	Enhancers	A549	lung
37	chr12:12423600-12424400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links