Variant report

Variant	rs7224723
Chromosome Location	chr17:16456614-16456615
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10491106	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16959797	1.00[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16959800	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16959821	0.86[AMR][1000 genomes]
rs16959828	0.80[YRI][hapmap];0.86[AMR][1000 genomes]
rs28414896	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57442832	0.81[AMR][1000 genomes]
rs57502248	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6502509	0.81[GIH][hapmap]
rs6502510	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7211050	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7213263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7214188	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7214679	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7217433	1.00[CEU][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes]
rs7221221	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs7221367	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs73982005	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8066499	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8066627	0.92[EUR][1000 genomes]
rs8077233	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9889318	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9889728	0.81[AMR][1000 genomes]
rs9892027	0.88[EUR][1000 genomes]
rs9893954	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9904252	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9911849	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16447400-16463200	ZNF genes & repeats	Liver	Liver
2	chr17:16451200-16463200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:16452800-16459600	ZNF genes & repeats	Brain Anterior Caudate	brain
4	chr17:16452800-16460600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr17:16452800-16463200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:16452800-16463200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr17:16453400-16460200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr17:16453600-16463200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr17:16453800-16457400	Weak transcription	Fetal Stomach	stomach
10	chr17:16453800-16459400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr17:16453800-16459600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr17:16453800-16459600	ZNF genes & repeats	Psoas Muscle	Psoas
13	chr17:16453800-16462200	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr17:16454000-16459600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr17:16454200-16459400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:16454200-16459800	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr17:16454200-16460000	ZNF genes & repeats	Fetal Brain Female	brain
18	chr17:16454400-16457200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:16454400-16457400	ZNF genes & repeats	HSMM	muscle
20	chr17:16454400-16458000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
21	chr17:16454400-16459000	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr17:16454400-16460000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr17:16454400-16463200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:16454600-16457400	ZNF genes & repeats	HSMMtube	muscle
25	chr17:16454600-16459600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr17:16454600-16460200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:16454600-16463200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:16454600-16467600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:16454800-16457200	ZNF genes & repeats	Brain Angular Gyrus	brain
30	chr17:16454800-16457200	ZNF genes & repeats	Fetal Brain Male	brain
31	chr17:16454800-16457600	ZNF genes & repeats	Fetal Heart	heart
32	chr17:16454800-16457600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr17:16454800-16459000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:16454800-16461600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr17:16454800-16461600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr17:16454800-16467600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr17:16455000-16459400	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr17:16455000-16459600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr17:16455000-16459600	ZNF genes & repeats	Fetal Lung	lung
40	chr17:16455000-16463400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:16455000-16471200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:16455200-16457200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:16455200-16457400	ZNF genes & repeats	Fetal Kidney	kidney
44	chr17:16455200-16458200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
45	chr17:16455200-16459000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:16455200-16459000	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr17:16455200-16459200	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr17:16455200-16459200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
49	chr17:16455200-16459600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:16455200-16459600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--

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