Variant report

Variant	rs4687854
Chromosome Location	chr3:119130373-119130374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11706028	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11706042	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11709468	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs11714738	0.82[ASN][1000 genomes]
rs11719448	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11720158	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11720423	0.84[ASN][1000 genomes]
rs1599795	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1599796	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17203104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17203188	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1938	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1961132	0.82[ASN][1000 genomes]
rs2049500	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs2276713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2280670	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2293371	0.81[ASN][1000 genomes]
rs34090996	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3732418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3755579	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4447803	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4461452	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs4687851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687863	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4688002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688009	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4688011	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4688013	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56129904	0.86[ASN][1000 genomes]
rs57506457	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59024323	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60938951	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62263399	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62263404	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62263406	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62263444	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62264483	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62264487	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9289131	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9832341	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv997290	chr3:119127141-119135667	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
3	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
5	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
7	chr3:119097000-119132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
10	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:119100000-119132600	Weak transcription	Primary B cells from cord blood	blood
12	chr3:119102600-119133200	Weak transcription	NHLF	lung
13	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:119106400-119131200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:119109400-119130800	Strong transcription	Osteobl	bone
18	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:119110400-119132200	Weak transcription	Brain Substantia Nigra	brain
20	chr3:119111800-119132600	Weak transcription	Thymus	Thymus
21	chr3:119112000-119132600	Weak transcription	Fetal Intestine Small	intestine
22	chr3:119112000-119132600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
25	chr3:119112400-119132800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
28	chr3:119114600-119132200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:119116400-119132400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:119116600-119133400	Strong transcription	Left Ventricle	heart
31	chr3:119118600-119133200	Weak transcription	Fetal Intestine Large	intestine
32	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:119121200-119132800	Weak transcription	Pancreas	Pancrea
34	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:119121400-119132400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:119121400-119132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:119121400-119135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:119121400-119136000	Weak transcription	Esophagus	oesophagus
39	chr3:119123000-119136200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:119123400-119132600	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:119124400-119132600	Weak transcription	Gastric	stomach
42	chr3:119124400-119134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:119124600-119135000	Weak transcription	Brain Angular Gyrus	brain
44	chr3:119125600-119132600	Weak transcription	HSMMtube	muscle
45	chr3:119126000-119130600	Strong transcription	NH-A	brain
46	chr3:119126200-119130800	Strong transcription	HUVEC	blood vessel
47	chr3:119127000-119130600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:119127000-119135200	Strong transcription	Fetal Muscle Leg	muscle
49	chr3:119127200-119130400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:119127200-119138200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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