Variant report

Variant	rs17164951
Chromosome Location	chr5:126764698-126764699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126764500..126767377-chr5:126777368..126779276,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10491250	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10519935	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11745840	1.00[CEU][hapmap]
rs11950427	0.95[YRI][hapmap]
rs11952552	0.88[YRI][hapmap]
rs11956397	0.87[YRI][hapmap]
rs12109001	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[ASN][1000 genomes]
rs12233927	0.86[YRI][hapmap]
rs12234066	0.84[YRI][hapmap]
rs1363384	0.93[ASN][1000 genomes]
rs1363386	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1363631	0.88[YRI][hapmap]
rs1501993	0.93[ASN][1000 genomes]
rs1529468	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17164854	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17164923	1.00[CEU][hapmap]
rs17164956	0.85[YRI][hapmap]
rs17164957	0.92[YRI][hapmap]
rs17164963	0.87[YRI][hapmap]
rs17165013	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17165018	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17165019	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17165090	0.86[YRI][hapmap]
rs17684644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17684655	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17684679	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17684691	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17684740	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17684775	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17763126	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17763172	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17839693	0.84[YRI][hapmap]
rs1990954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1990955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2042941	0.93[ASN][1000 genomes]
rs2042942	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2042943	0.93[ASN][1000 genomes]
rs2270933	1.00[CEU][hapmap]
rs3851468	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3851469	0.95[YRI][hapmap]
rs41298316	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157640	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60681812	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60998265	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595773	0.84[YRI][hapmap]
rs6865700	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6866275	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6873921	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6874260	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6877383	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6883445	0.92[YRI][hapmap]
rs6897163	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs73346906	0.87[ASN][1000 genomes]
rs73348744	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715710	0.93[ASN][1000 genomes]
rs7737871	1.00[CEU][hapmap]
rs929781	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:126755400-126774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:126756000-126768000	Weak transcription	Fetal Brain Male	brain
6	chr5:126756000-126770400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:126759200-126774000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:126760600-126766200	Enhancers	Brain Hippocampus Middle	brain
10	chr5:126761000-126774800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:126761200-126764800	Weak transcription	HSMM	muscle
13	chr5:126761600-126774000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:126761800-126776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:126761800-126779600	Weak transcription	Right Atrium	heart
16	chr5:126762800-126769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:126762800-126778400	Weak transcription	Pancreas	Pancrea
18	chr5:126763000-126770000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:126763200-126766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:126763200-126766000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:126763200-126770600	Enhancers	Brain Substantia Nigra	brain
22	chr5:126763400-126765800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:126763400-126765800	Enhancers	Brain Anterior Caudate	brain
24	chr5:126763400-126766200	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:126763800-126766200	Enhancers	Brain Angular Gyrus	brain
27	chr5:126764000-126764800	Enhancers	Brain Germinal Matrix	brain
28	chr5:126764000-126764800	Weak transcription	Fetal Intestine Large	intestine
29	chr5:126764000-126765000	Enhancers	Duodenum Mucosa	Duodenum
30	chr5:126764000-126765200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:126764000-126765200	Enhancers	Fetal Intestine Small	intestine
32	chr5:126764000-126767000	Enhancers	Stomach Mucosa	stomach
33	chr5:126764200-126765600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:126764200-126765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:126764200-126766400	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:126764200-126768400	Weak transcription	Fetal Heart	heart
37	chr5:126764400-126765000	Weak transcription	Fetal Brain Female	brain
38	chr5:126764400-126765200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:126764600-126765000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:126764600-126765000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr5:126764600-126766600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:126764600-126770400	Weak transcription	HSMMtube	muscle

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