Variant report

Variant	rs4931357
Chromosome Location	chr12:30795041-30795042
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	chr12:30794674..30797309-chr12:30838557..30840945,2	K562	blood:
2	chr12:30787506..30790703-chr12:30791506..30796322,4	K562	blood:

Variant related genes	Relation type
ENSG00000133704	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11608803	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613738	0.86[AMR][1000 genomes]
rs11614046	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17486840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560141	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687472	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687791	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687846	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687964	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688437	1.00[ASN][1000 genomes]
rs17688567	0.89[AMR][1000 genomes]
rs17739338	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2099029	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882856	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850959	0.83[AMR][1000 genomes]
rs4459394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930937	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931358	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931359	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931363	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55957969	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300410	1.00[ASN][1000 genomes]
rs73077865	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077869	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077870	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077877	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077884	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077887	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077893	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079959	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079962	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079965	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079966	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079970	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079971	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079992	1.00[ASN][1000 genomes]
rs73079995	1.00[ASN][1000 genomes]
rs73079996	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30771000-30812200	Weak transcription	Aorta	Aorta
3	chr12:30771200-30804200	Weak transcription	Fetal Brain Male	brain
4	chr12:30774600-30812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:30775600-30815400	Weak transcription	Right Ventricle	heart
6	chr12:30775800-30813200	Weak transcription	HMEC	breast
7	chr12:30775800-30815200	Weak transcription	NHEK	skin
8	chr12:30776000-30808400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:30779200-30812200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:30779400-30796400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:30779800-30825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:30780400-30796200	Weak transcription	Hela-S3	cervix
13	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:30781200-30797600	Strong transcription	Primary B cells from cord blood	blood
15	chr12:30781200-30806600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:30781800-30796200	Weak transcription	NHLF	lung
17	chr12:30781800-30826400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:30782400-30814800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:30782400-30821200	Weak transcription	Esophagus	oesophagus
20	chr12:30783800-30798400	Weak transcription	HepG2	liver
21	chr12:30783800-30827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
23	chr12:30784000-30803400	Weak transcription	HSMMtube	muscle
24	chr12:30784000-30815800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:30784600-30803400	Weak transcription	K562	blood
26	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
27	chr12:30785000-30796000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:30785000-30800800	Weak transcription	Brain Germinal Matrix	brain
29	chr12:30785000-30847800	Weak transcription	Gastric	stomach
30	chr12:30785200-30796200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:30785200-30796600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
33	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:30785800-30809000	Weak transcription	Pancreas	Pancrea
35	chr12:30785800-30813200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:30786000-30813000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:30786000-30826600	Weak transcription	Colonic Mucosa	Colon
38	chr12:30786800-30808400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:30787200-30801200	Weak transcription	NH-A	brain
40	chr12:30787200-30802000	Weak transcription	NHDF-Ad	bronchial
41	chr12:30787200-30805200	Weak transcription	GM12878-XiMat	blood
42	chr12:30787200-30813000	Weak transcription	Ovary	ovary
43	chr12:30787200-30813400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:30787200-30821200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:30788000-30821000	Weak transcription	Stomach Mucosa	stomach
46	chr12:30789000-30802000	Weak transcription	HUVEC	blood vessel
47	chr12:30790000-30798800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:30790000-30803800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:30790000-30813000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:30790200-30796000	Weak transcription	Duodenum Mucosa	Duodenum

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