Variant report

Variant	rs12076436
Chromosome Location	chr1:226836077-226836078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226834406..226836488-chr1:227013877..227016506,3	K562	blood:
2	chr1:226834406..226836185-chr1:227013877..227015402,2	K562	blood:
3	chr1:226834023..226836698-chr1:226841817..226845290,3	MCF-7	breast:
4	chr1:226834690..226837543-chr1:226839422..226842104,4	K562	blood:
5	chr1:226833813..226836204-chr1:226860352..226862883,2	K562	blood:

Variant related genes	Relation type
ENSG00000228382	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12739464	0.93[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16846346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738722	0.81[AMR][1000 genomes]
rs3754378	0.93[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][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	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3437235	chr1:226835029-226839227	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12076436	MOSC1	cis	cerebellum	SCAN
rs12076436	DNAH14	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
2	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
3	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
4	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr1:226823200-226841400	Weak transcription	NHDF-Ad	bronchial
7	chr1:226823800-226837400	Strong transcription	Dnd41	blood
8	chr1:226824800-226836800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226828000-226837200	Genic enhancers	Brain Hippocampus Middle	brain
10	chr1:226829400-226843800	Weak transcription	Brain Germinal Matrix	brain
11	chr1:226830400-226840400	Genic enhancers	Primary T cells from cord blood	blood
12	chr1:226830400-226840400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:226830600-226838000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:226831200-226837400	Genic enhancers	Brain Substantia Nigra	brain
15	chr1:226831400-226841600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:226831800-226837000	Strong transcription	Fetal Intestine Small	intestine
17	chr1:226832000-226838400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:226832000-226843800	Weak transcription	HMEC	breast
19	chr1:226832200-226837200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:226832200-226837400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:226832400-226836200	Strong transcription	Fetal Lung	lung
22	chr1:226832400-226836600	Strong transcription	Fetal Intestine Large	intestine
23	chr1:226832400-226837400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:226832400-226843600	Weak transcription	Stomach Mucosa	stomach
25	chr1:226832800-226837400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:226832800-226837400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:226833000-226837000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:226833000-226837200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:226833000-226838800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:226833400-226837000	Strong transcription	Gastric	stomach
31	chr1:226833400-226837200	Strong transcription	GM12878-XiMat	blood
32	chr1:226833400-226837400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:226833400-226837400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:226833600-226836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:226833600-226844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:226833800-226836200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:226833800-226837400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:226833800-226838200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:226833800-226841600	Weak transcription	Fetal Heart	heart
40	chr1:226834000-226836600	Strong transcription	Brain Anterior Caudate	brain
41	chr1:226834000-226836800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:226834000-226837000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:226834000-226837400	Weak transcription	Right Atrium	heart
44	chr1:226834200-226836600	Strong transcription	Liver	Liver
45	chr1:226834200-226837000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:226834200-226838200	Strong transcription	Thymus	Thymus
47	chr1:226834400-226836200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:226834400-226836200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr1:226834400-226836400	Strong transcription	Ovary	ovary
50	chr1:226834400-226836600	Strong transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links