Variant report

Variant	rs4908291
Chromosome Location	chr1:103572736-103572737
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1012282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10493988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10493991	1.00[JPT][hapmap]
rs10747437	0.83[ASN][1000 genomes]
rs10782921	1.00[JPT][hapmap]
rs10874665	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10874668	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10874677	0.83[ASN][1000 genomes]
rs10874678	0.86[ASN][1000 genomes]
rs10874679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10874680	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11164648	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11164649	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11164653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11164658	1.00[JPT][hapmap]
rs11164662	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11164665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11164668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11164669	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11164672	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11164673	0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11809524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11811018	1.00[JPT][hapmap]
rs12025848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12047268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12092111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12118365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12119459	1.00[JPT][hapmap]
rs12123031	1.00[JPT][hapmap]
rs12124588	1.00[JPT][hapmap]
rs12127590	1.00[JPT][hapmap]
rs12136338	1.00[JPT][hapmap]
rs12136748	1.00[JPT][hapmap]
rs12139120	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12142575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12723167	1.00[JPT][hapmap]
rs12723922	1.00[JPT][hapmap]
rs12724152	1.00[JPT][hapmap]
rs12726958	1.00[JPT][hapmap]
rs12727959	1.00[JPT][hapmap]
rs12728397	1.00[JPT][hapmap]
rs12729449	1.00[JPT][hapmap]
rs12729602	1.00[JPT][hapmap]
rs12731843	1.00[JPT][hapmap]
rs12733933	1.00[JPT][hapmap]
rs12738133	1.00[JPT][hapmap]
rs12740738	0.85[ASN][1000 genomes]
rs12743365	1.00[JPT][hapmap]
rs12744290	1.00[JPT][hapmap]
rs12744488	1.00[JPT][hapmap]
rs12750377	1.00[JPT][hapmap]
rs12756627	1.00[JPT][hapmap]
rs1337174	1.00[JPT][hapmap]
rs1337175	1.00[JPT][hapmap]
rs1337186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1337191	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1415359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1415361	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1415364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1463034	1.00[JPT][hapmap]
rs1463035	1.00[JPT][hapmap]
rs1538041	1.00[JPT][hapmap]
rs1564143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1591636	1.00[JPT][hapmap]
rs1591637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17506286	1.00[JPT][hapmap]
rs17507967	1.00[JPT][hapmap]
rs1870958	1.00[JPT][hapmap]
rs1903787	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2050601	1.00[JPT][hapmap]
rs2061704	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2065922	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2252146	1.00[JPT][hapmap]
rs2254082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2376280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2376281	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2615977	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2615987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2622848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2622870	1.00[JPT][hapmap]
rs2622874	1.00[JPT][hapmap]
rs2622876	1.00[JPT][hapmap]
rs2622877	1.00[JPT][hapmap]
rs2622880	1.00[JPT][hapmap]
rs2786120	1.00[JPT][hapmap]
rs2786121	1.00[JPT][hapmap]
rs2786122	1.00[JPT][hapmap]
rs2786125	1.00[JPT][hapmap]
rs2889351	0.85[ASN][1000 genomes]
rs2929163	1.00[JPT][hapmap]
rs3102053	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3767272	0.82[JPT][hapmap]
rs3850459	1.00[JPT][hapmap]
rs4338381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4391683	0.86[ASN][1000 genomes]
rs4478834	1.00[JPT][hapmap]
rs4907986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4908280	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4908286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6663034	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6670486	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6672647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6695665	1.00[JPT][hapmap]
rs7517682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7532572	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7544130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7550118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs945748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9970114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[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	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103567400-103575000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:103570400-103573400	Active TSS	Brain Germinal Matrix	brain
3	chr1:103570400-103575200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:103571400-103573600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:103571400-103574600	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr1:103571400-103574800	Active TSS	Fetal Brain Female	brain
7	chr1:103571600-103573000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:103571600-103573200	Active TSS	NH-A	brain
9	chr1:103571600-103574600	Active TSS	HSMMtube	muscle
10	chr1:103571800-103572800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:103571800-103573000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:103571800-103573000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:103571800-103573000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:103571800-103573200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:103571800-103574600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:103571800-103574600	Active TSS	Brain Hippocampus Middle	brain
17	chr1:103571800-103574800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:103571800-103574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:103571800-103574800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:103571800-103575000	Active TSS	Brain Anterior Caudate	brain
21	chr1:103571800-103575000	Active TSS	HSMM	muscle
22	chr1:103571800-103575200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:103571800-103575200	Active TSS	Brain Angular Gyrus	brain
24	chr1:103571800-103575200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:103571800-103575600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:103572000-103573200	Active TSS	Colon Smooth Muscle	Colon
27	chr1:103572000-103573200	Active TSS	Fetal Brain Male	brain
28	chr1:103572000-103573200	Active TSS	Fetal Kidney	kidney
29	chr1:103572000-103573200	Active TSS	Stomach Smooth Muscle	stomach
30	chr1:103572000-103573400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:103572000-103573600	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:103572000-103574000	Active TSS	NHLF	lung
33	chr1:103572000-103574400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:103572000-103574600	Active TSS	Aorta	Aorta
35	chr1:103572000-103574600	Active TSS	Brain Substantia Nigra	brain
36	chr1:103572000-103574600	Active TSS	Right Atrium	heart
37	chr1:103572000-103574600	Active TSS	NHDF-Ad	bronchial
38	chr1:103572000-103574800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:103572000-103574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:103572000-103574800	Active TSS	Fetal Heart	heart
41	chr1:103572000-103575000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:103572000-103575200	Active TSS	A549	lung
43	chr1:103572200-103572800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:103572200-103572800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:103572200-103572800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:103572200-103572800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:103572200-103572800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr1:103572200-103572800	Flanking Bivalent TSS/Enh	Liver	Liver
49	chr1:103572200-103572800	Active TSS	Colonic Mucosa	Colon
50	chr1:103572200-103572800	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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