Variant report

Variant	rs1848511
Chromosome Location	chr5:57749769-57749770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57157132..57161136-chr5:57747678..57750826,3	MCF-7	breast:
2	chr1:149221384..149225232-chr5:57748679..57751129,3	MCF-7	breast:
3	chr5:57176077..57177862-chr5:57748137..57750239,2	MCF-7	breast:
4	chr5:57490051..57491954-chr5:57748730..57750590,2	MCF-7	breast:
5	chr5:57608550..57610073-chr5:57747902..57750189,2	MCF-7	breast:
6	chr5:57538142..57540625-chr5:57748575..57750284,2	MCF-7	breast:
7	chr5:57739641..57742111-chr5:57749437..57750937,2	MCF-7	breast:
8	chr5:57077792..57079742-chr5:57748468..57750917,2	MCF-7	breast:
9	chr5:57471335..57473541-chr5:57748277..57749882,2	MCF-7	breast:
10	chr5:57401526..57403510-chr5:57748053..57750408,2	MCF-7	breast:
11	chr5:57370978..57374867-chr5:57746378..57750088,5	MCF-7	breast:
12	chr5:57666483..57668447-chr5:57747983..57749992,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs149135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs154678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1848513	0.85[YRI][hapmap]
rs2548596	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2662621	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702703	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs702704	0.88[ASN][1000 genomes]
rs702705	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs702706	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs702711	0.90[EUR][1000 genomes]
rs702712	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs702714	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs702715	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs702716	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs702718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs702722	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs702724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs832623	0.80[AMR][1000 genomes]
rs832625	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs832627	0.91[EUR][1000 genomes]
rs832628	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs832630	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs832633	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs832634	0.96[ASN][1000 genomes]
rs832635	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs832637	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs832638	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs832640	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1848511	ERCC8	cis	cerebellum	SCAN
rs1848511	FLJ33641	cis	multi-tissue	Pritchard
rs1848511	PLK2	cis	cerebellum	SCAN
rs1848511	GPBP1	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57735200-57751400	Weak transcription	Psoas Muscle	Psoas
2	chr5:57741400-57750200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:57742800-57750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:57742800-57750800	Weak transcription	Aorta	Aorta
5	chr5:57742800-57751400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:57743000-57750200	Weak transcription	Pancreas	Pancrea
7	chr5:57743200-57750000	Weak transcription	NHLF	lung
8	chr5:57743800-57751000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:57744000-57750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:57746000-57751000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr5:57746200-57750200	Strong transcription	Fetal Muscle Leg	muscle
12	chr5:57746400-57750000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:57746800-57750000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:57746800-57750200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:57746800-57750400	Weak transcription	Fetal Thymus	thymus
16	chr5:57746800-57750800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:57747000-57750400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:57747000-57752800	Weak transcription	Fetal Intestine Small	intestine
19	chr5:57747200-57750000	Weak transcription	Ovary	ovary
20	chr5:57747200-57750200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:57747400-57750000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:57747400-57750000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:57747400-57750200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:57747400-57750200	Weak transcription	Esophagus	oesophagus
25	chr5:57747400-57752400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:57747600-57749800	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:57747600-57750200	Weak transcription	Gastric	stomach
28	chr5:57747600-57750200	Weak transcription	Lung	lung
29	chr5:57747800-57750000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr5:57747800-57753000	Strong transcription	Liver	Liver
31	chr5:57747800-57754200	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:57748000-57750000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:57748000-57750000	Strong transcription	HSMM	muscle
34	chr5:57748000-57750000	Strong transcription	Osteobl	bone
35	chr5:57748000-57750200	Weak transcription	Dnd41	blood
36	chr5:57748000-57752400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:57748200-57751000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:57748400-57749800	Genic enhancers	HMEC	breast
39	chr5:57748400-57750000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:57748400-57750000	Strong transcription	Brain Germinal Matrix	brain
41	chr5:57748400-57750000	Weak transcription	Brain Substantia Nigra	brain
42	chr5:57748400-57750000	Strong transcription	Fetal Kidney	kidney
43	chr5:57748400-57750000	Genic enhancers	NHEK	skin
44	chr5:57748400-57750200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:57748400-57751000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:57748400-57753400	Strong transcription	Fetal Intestine Large	intestine
47	chr5:57748600-57750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:57748600-57750200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:57748600-57750200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:57748600-57750400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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