Variant report

Variant	rs301092
Chromosome Location	chr4:53821849-53821850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53816087..53818184-chr4:53821394..53824021,2	K562	blood:
2	chr4:53818956..53821968-chr4:53823674..53826414,3	K562	blood:
3	chr4:53578721..53580939-chr4:53820064..53821996,2	MCF-7	breast:
4	chr4:53815516..53817587-chr4:53820370..53822894,2	K562	blood:

Variant related genes	Relation type
ENSG00000264585	Chromatin interaction
ENSG00000226950	Chromatin interaction
ENSG00000212588	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10010254	0.80[YRI][hapmap]
rs11133237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11726290	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs301089	0.85[YRI][hapmap]
rs301093	0.81[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs301092	KIAA1211	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
3	chr4:53800400-53823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:53806200-53822400	Weak transcription	NHDF-Ad	bronchial
5	chr4:53808600-53828000	Weak transcription	Right Atrium	heart
6	chr4:53808800-53836000	Weak transcription	Esophagus	oesophagus
7	chr4:53810000-53822400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:53812400-53828000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:53812400-53831200	Weak transcription	Aorta	Aorta
10	chr4:53813200-53827000	Weak transcription	Spleen	Spleen
11	chr4:53813400-53823200	Weak transcription	Psoas Muscle	Psoas
12	chr4:53813600-53822800	Weak transcription	NHLF	lung
13	chr4:53813600-53823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:53814200-53829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:53815600-53829800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:53816000-53822400	Weak transcription	HSMMtube	muscle
17	chr4:53816200-53834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:53816800-53822400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:53816800-53822800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:53816800-53823200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:53817000-53823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:53817000-53823000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:53817200-53822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:53817200-53822800	Weak transcription	Placenta	Placenta
25	chr4:53817200-53832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:53817600-53823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:53817600-53826000	Weak transcription	Osteobl	bone
28	chr4:53817600-53829600	Weak transcription	NH-A	brain
29	chr4:53817800-53822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:53818000-53825600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:53818200-53849800	Weak transcription	Primary T cells from cord blood	blood
32	chr4:53819000-53822400	Weak transcription	Thymus	Thymus
33	chr4:53819600-53822800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:53820400-53822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:53820400-53822600	Weak transcription	Left Ventricle	heart
36	chr4:53820400-53822800	Weak transcription	Lung	lung
37	chr4:53820800-53822200	Weak transcription	Fetal Heart	heart
38	chr4:53820800-53822200	Weak transcription	Fetal Stomach	stomach
39	chr4:53820800-53823200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:53821200-53822800	Weak transcription	Fetal Lung	lung
41	chr4:53821200-53823000	Weak transcription	Fetal Kidney	kidney
42	chr4:53821200-53823000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:53821200-53823200	Weak transcription	Stomach Mucosa	stomach
44	chr4:53821200-53824000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:53821200-53824800	Enhancers	Fetal Thymus	thymus
46	chr4:53821400-53822200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:53821400-53822400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:53821400-53822400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:53821400-53822400	Weak transcription	Pancreas	Pancrea
50	chr4:53821400-53822800	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links