Variant report

Variant	rs1136613
Chromosome Location	chr17:45735975-45735976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11079780	0.81[ASN][1000 genomes]
rs1136614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16958421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16969984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240017	0.81[JPT][hapmap]
rs56767960	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57517565	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59583855	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59866241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59911216	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014739	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61419652	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8071832	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789082	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
3	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45728800-45742400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr17:45728800-45744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:45728800-45762800	Strong transcription	Fetal Stomach	stomach
4	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr17:45729000-45743400	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr17:45729200-45736600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr17:45729200-45736800	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr17:45729200-45760400	Strong transcription	Fetal Muscle Leg	muscle
9	chr17:45729200-45760600	Strong transcription	Fetal Brain Female	brain
10	chr17:45729200-45763800	Strong transcription	Placenta	Placenta
11	chr17:45729400-45736400	Strong transcription	Colonic Mucosa	Colon
12	chr17:45729400-45737400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:45729400-45741800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr17:45729600-45736600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:45729600-45737000	Strong transcription	Thymus	Thymus
16	chr17:45729600-45742200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:45729600-45762600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:45729800-45752000	Strong transcription	Left Ventricle	heart
19	chr17:45729800-45761600	Strong transcription	HSMM	muscle
20	chr17:45730000-45736200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr17:45730000-45736600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:45730000-45739600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:45730000-45740000	Strong transcription	Aorta	Aorta
24	chr17:45730000-45741000	Strong transcription	HSMMtube	muscle
25	chr17:45730000-45741600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr17:45730200-45736200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr17:45730200-45736200	Strong transcription	Fetal Thymus	thymus
28	chr17:45730200-45741400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:45730400-45737400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr17:45730400-45741600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45730600-45741000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr17:45730600-45741800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:45730800-45736000	Strong transcription	Ovary	ovary
36	chr17:45730800-45736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:45730800-45760600	Strong transcription	Lung	lung
38	chr17:45731000-45736200	Strong transcription	Primary B cells from cord blood	blood
39	chr17:45731000-45736400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr17:45731000-45757600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:45731200-45741000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr17:45731200-45762200	Strong transcription	Fetal Lung	lung
43	chr17:45731200-45763800	Strong transcription	K562	blood
44	chr17:45731400-45737400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:45731400-45737600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr17:45731400-45740800	Strong transcription	Fetal Kidney	kidney
47	chr17:45731400-45741600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:45731400-45744600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:45731400-45762000	Strong transcription	NH-A	brain
50	chr17:45731800-45736600	Strong transcription	Spleen	Spleen

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