Variant report

Variant	rs11650700
Chromosome Location	chr17:17243051-17243052
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17242681..17244541-chr17:17249792..17252360,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12943271	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12951434	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860553	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34100977	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62066156	0.93[ASN][1000 genomes]
rs7211968	0.96[ASN][1000 genomes]
rs7212369	0.92[EUR][1000 genomes]
rs7222555	0.91[ASN][1000 genomes]
rs9889298	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894669	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9898042	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9898622	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9902505	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9908124	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908338	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912172	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9914424	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9915883	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9916133	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	nsv960382	chr17:17231433-17252299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
3	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
4	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
6	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:17224600-17248200	Weak transcription	Pancreas	Pancrea
9	chr17:17226600-17251200	Weak transcription	Primary T cells from cord blood	blood
10	chr17:17226800-17246800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:17227200-17254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:17228600-17255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:17228800-17245600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:17229000-17245800	Weak transcription	Dnd41	blood
16	chr17:17229200-17247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:17229200-17255200	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:17229400-17247800	Weak transcription	Fetal Intestine Small	intestine
19	chr17:17229600-17245600	Weak transcription	Brain Angular Gyrus	brain
20	chr17:17229600-17246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:17229800-17258400	Weak transcription	Thymus	Thymus
22	chr17:17230000-17245800	Weak transcription	Brain Germinal Matrix	brain
23	chr17:17230000-17246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:17230000-17250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:17230200-17245400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr17:17230200-17245400	Weak transcription	Fetal Muscle Leg	muscle
27	chr17:17230200-17246000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr17:17230200-17250600	Weak transcription	Adipose Nuclei	Adipose
29	chr17:17230200-17252200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr17:17230200-17258200	Weak transcription	Brain Anterior Caudate	brain
31	chr17:17231600-17247800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:17232000-17244600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:17232200-17244800	Weak transcription	Fetal Brain Female	brain
34	chr17:17232800-17246000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr17:17234200-17251200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:17236200-17253800	Weak transcription	Spleen	Spleen
37	chr17:17237000-17244600	Weak transcription	Fetal Stomach	stomach
38	chr17:17237200-17245600	Weak transcription	Ovary	ovary
39	chr17:17240800-17244200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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