Variant report

Variant	rs42551
Chromosome Location	chr5:14321785-14321786
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14290375..14293026-chr5:14320787..14322470,2	K562	blood:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs154150	0.85[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]
rs154153	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs154154	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs154155	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs154161	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs165083	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1664507	0.81[EUR][1000 genomes]
rs16903338	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs247134	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs247139	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs247140	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs247141	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs247142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs247143	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs247144	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs256417	0.81[EUR][1000 genomes]
rs256423	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs30618	0.83[CEU][hapmap]
rs30621	0.84[MEX][hapmap]
rs30622	0.90[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs30623	0.84[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs30624	0.84[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs30625	0.80[AMR][1000 genomes]
rs30634	0.92[ASN][1000 genomes]
rs30782	0.81[EUR][1000 genomes]
rs30783	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs30784	0.95[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs30792	0.84[CEU][hapmap];0.89[TSI][hapmap]
rs39857	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs40275	0.89[ASN][1000 genomes]
rs409214	0.81[EUR][1000 genomes]
rs42204	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs42259	0.90[CEU][hapmap];0.89[TSI][hapmap]
rs42405	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs42407	0.85[EUR][1000 genomes]
rs7380307	0.83[CEU][hapmap];0.80[AMR][1000 genomes]
rs7700787	0.80[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs42551	LOC285696	cis	parietal	SCAN
rs42551	FAM105B	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:14310200-14322200	Weak transcription	Fetal Brain Male	brain
9	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
10	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:14313600-14325000	Weak transcription	Fetal Heart	heart
12	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:14314000-14326800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:14314200-14323600	Strong transcription	HSMMtube	muscle
15	chr5:14314200-14325600	Weak transcription	Psoas Muscle	Psoas
16	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
17	chr5:14314600-14326800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr5:14314600-14338200	Strong transcription	HSMM	muscle
19	chr5:14314800-14326600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:14314800-14342200	Strong transcription	Osteobl	bone
21	chr5:14315000-14325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:14315200-14323200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:14316000-14321800	Strong transcription	A549	lung
24	chr5:14316200-14324000	Strong transcription	Fetal Intestine Large	intestine
25	chr5:14316200-14325800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:14316400-14321800	Strong transcription	Left Ventricle	heart
28	chr5:14316400-14322000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:14316400-14322200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:14316400-14322200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:14316400-14322200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr5:14316400-14322800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:14316400-14324000	Strong transcription	Adipose Nuclei	Adipose
34	chr5:14316400-14324000	Strong transcription	NHEK	skin
35	chr5:14316400-14326600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr5:14316600-14323800	Strong transcription	Fetal Stomach	stomach
37	chr5:14316800-14323000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:14317200-14322400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:14317200-14323800	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:14317200-14326800	Strong transcription	NHLF	lung
41	chr5:14317200-14330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:14317400-14326200	Weak transcription	Fetal Kidney	kidney
43	chr5:14317600-14323200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:14317800-14322200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:14317800-14322200	Weak transcription	Fetal Brain Female	brain
46	chr5:14317800-14322600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:14317800-14326000	Weak transcription	Brain Angular Gyrus	brain
48	chr5:14317800-14326000	Weak transcription	Gastric	stomach
49	chr5:14317800-14326200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:14317800-14328000	Weak transcription	Brain Substantia Nigra	brain

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