Variant report

Variant	rs8093221
Chromosome Location	chr18:9755411-9755412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9723184..9725690-chr18:9755315..9757429,2	K562	blood:
2	chr18:9726328..9728477-chr18:9753850..9756440,2	K562	blood:
3	chr18:9754564..9758028-chr18:9758607..9762547,4	K562	blood:
4	chr18:9707138..9711181-chr18:9753549..9757373,4	MCF-7	breast:
5	chr18:9754934..9759602-chr18:9760680..9767118,9	K562	blood:
6	chr18:9745938..9748130-chr18:9753763..9755422,2	K562	blood:

Variant related genes	Relation type
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16955541	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4798846	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4798848	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4798849	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62081160	0.83[EUR][1000 genomes]
rs6506696	0.96[CEU][hapmap];0.98[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8085958	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8086019	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8086030	0.89[CEU][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes]
rs8086174	0.95[CEU][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8091737	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8092949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093100	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099036	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs9946546	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9951171	0.88[CEU][hapmap];0.87[AMR][1000 genomes]
rs9958317	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9966247	0.92[CEU][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.84[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	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1821203	chr18:9747676-9757934	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1796843	chr18:9749799-9757934	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1796789	chr18:9749957-9757734	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr18:9744000-9755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:9744000-9757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:9744400-9757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:9744400-9757000	Weak transcription	HSMMtube	muscle
6	chr18:9744400-9757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:9748200-9759600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr18:9750200-9771400	Weak transcription	Brain Angular Gyrus	brain
9	chr18:9750400-9756800	Weak transcription	Brain Hippocampus Middle	brain
10	chr18:9750800-9758200	Weak transcription	NHLF	lung
11	chr18:9750800-9764000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr18:9751000-9757600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:9751000-9757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:9751000-9760600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr18:9751000-9762200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr18:9751400-9756400	Weak transcription	Primary B cells from cord blood	blood
17	chr18:9751600-9756600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr18:9751600-9757000	Weak transcription	Brain Substantia Nigra	brain
19	chr18:9751800-9755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:9751800-9758200	Weak transcription	Brain Anterior Caudate	brain
21	chr18:9752000-9757600	Weak transcription	Pancreas	Pancrea
22	chr18:9752200-9766000	Weak transcription	Ovary	ovary
23	chr18:9752600-9757000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:9753200-9756400	Enhancers	Osteobl	bone
25	chr18:9753400-9757600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr18:9754200-9757400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:9754200-9757800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:9754200-9758000	Weak transcription	HMEC	breast
29	chr18:9754200-9758200	Weak transcription	NHEK	skin
30	chr18:9754200-9761200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr18:9754200-9763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:9754600-9758000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr18:9754800-9755800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:9754800-9755800	Genic enhancers	Aorta	Aorta
35	chr18:9754800-9756000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr18:9754800-9756200	Genic enhancers	Hela-S3	cervix
37	chr18:9754800-9759400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr18:9755000-9756400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:9755000-9758400	Weak transcription	Small Intestine	intestine
40	chr18:9755000-9758600	Weak transcription	A549	lung
41	chr18:9755200-9755600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr18:9755200-9755800	Enhancers	Fetal Muscle Leg	muscle
43	chr18:9755200-9756200	Enhancers	K562	blood
44	chr18:9755200-9756400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:9755200-9756600	Enhancers	HUVEC	blood vessel
46	chr18:9755200-9757600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:9755200-9759000	Enhancers	NH-A	brain
48	chr18:9755200-9759400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr18:9755400-9755600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:9755400-9755600	Weak transcription	Duodenum Mucosa	Duodenum

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