Variant report

Variant	rs7168835
Chromosome Location	chr15:42876014-42876015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42875894-42876530	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr15:42873165-42876784	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42869958..42872408-chr15:42873710..42876257,4	K562	blood:
2	chr15:42864913..42867956-chr15:42873975..42876475,3	K562	blood:
3	chr15:42874834..42878108-chr15:42881601..42883971,4	K562	blood:

Variant related genes	Relation type
EIF4EBP2P2	TF binding region
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10454039	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10851411	0.84[AMR][1000 genomes]
rs11070374	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11631193	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11632169	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs1197546	0.81[ASN][1000 genomes]
rs1197547	0.87[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12102055	1.00[YRI][hapmap]
rs1211642	0.84[ASN][1000 genomes]
rs12594483	1.00[YRI][hapmap]
rs12594855	1.00[YRI][hapmap]
rs12903416	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12903432	0.82[AMR][1000 genomes]
rs12906497	1.00[YRI][hapmap]
rs12906697	0.83[AMR][1000 genomes]
rs12917018	1.00[YRI][hapmap]
rs12917189	1.00[YRI][hapmap]
rs1667493	0.88[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16957091	1.00[YRI][hapmap]
rs1705360	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs1814518	0.89[ASN][1000 genomes]
rs1995939	1.00[YRI][hapmap]
rs2241827	1.00[YRI][hapmap]
rs2241998	0.81[CHB][hapmap];0.92[AMR][1000 genomes]
rs2255995	0.84[AMR][1000 genomes]
rs2280048	1.00[YRI][hapmap]
rs2412711	1.00[YRI][hapmap]
rs2412741	1.00[YRI][hapmap]
rs2595940	0.82[AMR][1000 genomes]
rs2595941	0.82[AMR][1000 genomes]
rs2617236	0.85[AMR][1000 genomes]
rs3115883	1.00[YRI][hapmap]
rs3199486	1.00[YRI][hapmap]
rs3742987	1.00[YRI][hapmap]
rs3742988	1.00[YRI][hapmap]
rs4447398	0.82[ASN][1000 genomes]
rs4573906	0.82[AMR][1000 genomes]
rs4924690	1.00[YRI][hapmap]
rs565298	0.80[ASN][1000 genomes]
rs6493053	0.87[AMR][1000 genomes]
rs6493054	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs6493060	1.00[YRI][hapmap]
rs6493061	1.00[YRI][hapmap]
rs7166373	1.00[YRI][hapmap]
rs7166775	1.00[YRI][hapmap]
rs7169009	1.00[YRI][hapmap]
rs7169202	1.00[YRI][hapmap]
rs7174041	1.00[YRI][hapmap]
rs8027427	1.00[YRI][hapmap]
rs8034447	1.00[YRI][hapmap]
rs8043472	1.00[YRI][hapmap]
rs876992	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs9302112	0.84[AMR][1000 genomes]
rs9783683	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7168835	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
2	chr15:42873400-42877000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:42873400-42877200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:42873800-42876200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:42873800-42877000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:42873800-42878200	Weak transcription	Esophagus	oesophagus
7	chr15:42874000-42876400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:42874000-42876800	Enhancers	Fetal Thymus	thymus
9	chr15:42874000-42877000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:42874000-42877000	Flanking Active TSS	Fetal Heart	heart
11	chr15:42874000-42878000	Enhancers	K562	blood
12	chr15:42874000-42883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:42874200-42876200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:42874200-42876200	Enhancers	Brain Hippocampus Middle	brain
15	chr15:42874200-42876200	Enhancers	Fetal Muscle Leg	muscle
16	chr15:42874200-42876400	Weak transcription	HSMM	muscle
17	chr15:42874200-42876600	Enhancers	Brain Anterior Caudate	brain
18	chr15:42874200-42876800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr15:42874200-42877000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr15:42874200-42877000	Enhancers	Adipose Nuclei	Adipose
21	chr15:42874200-42877000	Enhancers	HepG2	liver
22	chr15:42874200-42877200	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:42874200-42877200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr15:42874200-42877400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:42874200-42879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:42874200-42880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:42874200-42883400	Weak transcription	NHEK	skin
28	chr15:42874200-42883600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:42874200-42885800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:42874200-42894400	Weak transcription	A549	lung
31	chr15:42874200-42896600	Weak transcription	Hela-S3	cervix
32	chr15:42874400-42876200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:42874400-42876200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:42874400-42876200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:42874400-42876200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr15:42874400-42876200	Weak transcription	HMEC	breast
37	chr15:42874400-42876400	Weak transcription	Fetal Kidney	kidney
38	chr15:42874400-42876800	Enhancers	Brain Germinal Matrix	brain
39	chr15:42874400-42877000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr15:42874400-42877200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:42874400-42877600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr15:42874400-42878000	Enhancers	Brain Angular Gyrus	brain
43	chr15:42874400-42878400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:42874400-42880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:42874400-42883400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:42874400-42884800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:42874400-42886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:42874400-42887000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr15:42874400-42887000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr15:42874400-42887200	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links