Variant report

Variant	rs242244
Chromosome Location	chr17:17251475-17251476
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17246510..17248413-chr17:17250507..17252486,2	MCF-7	breast:
2	chr17:17242681..17244541-chr17:17249792..17252360,2	K562	blood:
3	chr17:17244661..17247753-chr17:17248969..17251580,3	MCF-7	breast:
4	chr17:17249857..17252343-chr17:17255429..17258698,4	K562	blood:
5	chr17:17244604..17246460-chr17:17249407..17252160,2	K562	blood:
6	chr17:17251419..17253627-chr17:17398000..17400988,3	MCF-7	breast:
7	chr17:17250809..17254100-chr17:17254558..17258698,5	K562	blood:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11867932	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961564	0.80[EUR][1000 genomes]
rs171394	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242242	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985764	1.00[ASN][1000 genomes]
rs7220829	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	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	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
2	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
3	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr17:17227200-17254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:17228600-17255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:17229200-17255200	Weak transcription	Brain Hippocampus Middle	brain
9	chr17:17229800-17258400	Weak transcription	Thymus	Thymus
10	chr17:17230200-17252200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:17230200-17258200	Weak transcription	Brain Anterior Caudate	brain
12	chr17:17236200-17253800	Weak transcription	Spleen	Spleen
13	chr17:17244200-17252400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:17244600-17255200	Weak transcription	Esophagus	oesophagus
15	chr17:17246400-17255400	Weak transcription	Ovary	ovary
16	chr17:17246400-17257800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr17:17246400-17258000	Weak transcription	Dnd41	blood
18	chr17:17246400-17258600	Weak transcription	Brain Angular Gyrus	brain
19	chr17:17246600-17255200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:17247400-17252200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr17:17247800-17252600	Weak transcription	Fetal Heart	heart
22	chr17:17247800-17255400	Weak transcription	Right Atrium	heart
23	chr17:17248000-17258400	Weak transcription	Gastric	stomach
24	chr17:17248400-17251800	Weak transcription	HSMMtube	muscle
25	chr17:17248400-17254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:17248600-17258400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:17248800-17252400	Weak transcription	Fetal Muscle Leg	muscle
28	chr17:17249000-17256000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:17250000-17252400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:17250000-17254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:17250400-17253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:17250600-17254000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:17250600-17254600	Weak transcription	Brain Germinal Matrix	brain
34	chr17:17250800-17265400	Weak transcription	Fetal Brain Female	brain
35	chr17:17251000-17253000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:17251200-17255000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr17:17251200-17258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:17251200-17258600	Weak transcription	Fetal Intestine Small	intestine
39	chr17:17251400-17255400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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