Variant report

Variant	rs221596
Chromosome Location	chr17:45230311-45230312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45229552..45231900-chr17:45241796..45244433,2	K562	blood:
2	chr17:45229066..45231948-chr17:45400564..45402346,2	K562	blood:

Variant related genes	Relation type
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1102461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11079756	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11079762	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11079763	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1634269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1713493	0.86[YRI][hapmap]
rs221603	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs221604	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs221605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs221607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2678693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4968308	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6504743	0.90[ASN][1000 genomes]
rs6504744	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7208288	0.85[ASN][1000 genomes]
rs8073936	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs858671	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs858675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858680	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9747171	0.92[ASN][1000 genomes]
rs9894365	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv8272	chr17:45219757-45232073	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3402949	chr17:45221263-45232118	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3334172	chr17:45221292-45232146	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv4896	chr17:45223249-45233036	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3434975	chr17:45229160-45232144	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3399918	chr17:45229197-45234362	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3391202	chr17:45229225-45230617	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3392491	chr17:45229245-45232088	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3355979	chr17:45229267-45232088	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3394895	chr17:45229287-45232058	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3325780	chr17:45229890-45232090	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3323698	chr17:45229910-45232061	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:45216400-45232600	Strong transcription	Osteobl	bone
5	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:45220000-45232800	Strong transcription	A549	lung
7	chr17:45221400-45230400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr17:45221400-45230400	Weak transcription	Spleen	Spleen
9	chr17:45221400-45231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:45221400-45231800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:45221400-45231800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:45221400-45232600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:45221400-45232800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:45221400-45232800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:45221400-45233000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:45221400-45233000	Strong transcription	NH-A	brain
17	chr17:45221400-45233200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr17:45221400-45233200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr17:45221400-45233400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:45221400-45233400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:45221400-45233400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:45221400-45233400	Strong transcription	Liver	Liver
23	chr17:45221400-45233400	Strong transcription	Fetal Thymus	thymus
24	chr17:45221400-45233600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:45221400-45233600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:45221400-45234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:45221400-45234200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:45221400-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:45221400-45234200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:45221400-45234200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:45221400-45234200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr17:45221400-45234200	Weak transcription	Aorta	Aorta
33	chr17:45221400-45234200	Weak transcription	Colonic Mucosa	Colon
34	chr17:45221400-45234200	Weak transcription	Esophagus	oesophagus
35	chr17:45221400-45234200	Weak transcription	Fetal Brain Male	brain
36	chr17:45221400-45234200	Weak transcription	Fetal Heart	heart
37	chr17:45221400-45234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr17:45221400-45234200	Weak transcription	Pancreas	Pancrea
39	chr17:45221400-45234200	Weak transcription	Right Ventricle	heart
40	chr17:45221400-45234200	Weak transcription	Small Intestine	intestine
41	chr17:45221400-45234200	Weak transcription	Stomach Mucosa	stomach
42	chr17:45221400-45234200	Strong transcription	Dnd41	blood
43	chr17:45221600-45233000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:45221800-45233400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:45222200-45233600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:45222400-45230800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:45222400-45233200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:45222400-45233200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr17:45222400-45233200	Strong transcription	GM12878-XiMat	blood
50	chr17:45222400-45233400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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