Variant report

Variant	rs154154
Chromosome Location	chr5:14317307-14317308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14266100..14268810-chr5:14315325..14317635,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12659261	0.81[EUR][1000 genomes]
rs154150	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs154153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154161	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs165083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903338	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs247134	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs247139	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs247140	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs247141	0.94[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs247142	0.87[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247143	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247144	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs256423	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs30603	0.82[EUR][1000 genomes]
rs30604	0.82[EUR][1000 genomes]
rs30605	0.82[EUR][1000 genomes]
rs30618	0.87[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs30622	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs30623	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs30624	0.86[JPT][hapmap]
rs30625	0.82[ASN][1000 genomes]
rs30633	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs30634	0.97[ASN][1000 genomes]
rs30635	0.81[ASN][1000 genomes]
rs30783	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs30784	0.81[CEU][hapmap]
rs39857	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40275	0.89[ASN][1000 genomes]
rs42204	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42259	0.81[CEU][hapmap]
rs42405	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42551	0.87[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72744279	0.81[EUR][1000 genomes]
rs7380307	0.88[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7700787	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][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

No data

Chromatin state (count:112 , 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	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
7	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:14305600-14317600	Strong transcription	HUVEC	blood vessel
13	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:14307600-14321400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:14307600-14321400	Strong transcription	NH-A	brain
16	chr5:14309200-14321200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:14310200-14322200	Weak transcription	Fetal Brain Male	brain
19	chr5:14310400-14318800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
21	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:14313600-14325000	Weak transcription	Fetal Heart	heart
23	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:14314000-14326800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:14314200-14323600	Strong transcription	HSMMtube	muscle
26	chr5:14314200-14325600	Weak transcription	Psoas Muscle	Psoas
27	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
28	chr5:14314600-14326800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr5:14314600-14338200	Strong transcription	HSMM	muscle
30	chr5:14314800-14326600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:14314800-14342200	Strong transcription	Osteobl	bone
32	chr5:14315000-14319400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:14315000-14325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:14315200-14323200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:14315800-14317800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr5:14315800-14321200	Strong transcription	NHDF-Ad	bronchial
37	chr5:14315800-14321400	Strong transcription	GM12878-XiMat	blood
38	chr5:14316000-14317800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:14316000-14319800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:14316000-14321800	Strong transcription	A549	lung
41	chr5:14316200-14319000	Strong transcription	HepG2	liver
42	chr5:14316200-14319800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:14316200-14321400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:14316200-14324000	Strong transcription	Fetal Intestine Large	intestine
45	chr5:14316200-14325800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:14316200-14332600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:14316400-14317400	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr5:14316400-14317600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:14316400-14317600	Genic enhancers	Ovary	ovary
50	chr5:14316400-14317600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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