Variant report

Variant	rs1116699
Chromosome Location	chr18:9747347-9747348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9706059..9708947-chr18:9745597..9749109,3	MCF-7	breast:
2	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:
3	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
4	chr18:9747038..9748943-chr18:9749027..9751835,2	K562	blood:
5	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:16)

rs_ID	r²[population]
rs1116700	0.89[EUR][1000 genomes]
rs1598455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2864780	0.83[EUR][1000 genomes]
rs2902842	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798839	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798840	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798843	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798844	0.89[EUR][1000 genomes]
rs7237162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8084104	0.83[EUR][1000 genomes]
rs8085665	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099079	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921835	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs921836	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv9606	chr18:9743017-9755287	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757669	chr18:9743326-9753992	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv2758712	chr18:9743326-9753992	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv828177	chr18:9743875-9754292	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv817783	chr18:9746909-9752939	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9742600-9750000	Weak transcription	Spleen	Spleen
2	chr18:9742800-9749800	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:9742800-9754400	Weak transcription	Right Ventricle	heart
4	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:9743200-9750200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr18:9743400-9754800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:9743600-9755400	Weak transcription	Fetal Stomach	stomach
8	chr18:9743800-9750000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:9744000-9749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:9744000-9749200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:9744000-9749800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr18:9744000-9749800	Weak transcription	Brain Angular Gyrus	brain
13	chr18:9744000-9749800	Weak transcription	Brain Substantia Nigra	brain
14	chr18:9744000-9750000	Weak transcription	Brain Anterior Caudate	brain
15	chr18:9744000-9750800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:9744000-9754800	Weak transcription	Aorta	Aorta
17	chr18:9744000-9755400	Weak transcription	Lung	lung
18	chr18:9744000-9755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:9744000-9757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:9744200-9747400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr18:9744200-9749200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:9744200-9754800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr18:9744400-9749200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:9744400-9749400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:9744400-9750000	Weak transcription	NH-A	brain
26	chr18:9744400-9753200	Weak transcription	NHEK	skin
27	chr18:9744400-9753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:9744400-9753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:9744400-9753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:9744400-9755200	Weak transcription	K562	blood
31	chr18:9744400-9755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:9744400-9757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:9744400-9757000	Weak transcription	HSMMtube	muscle
34	chr18:9744400-9757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:9744800-9753600	Weak transcription	A549	lung
36	chr18:9746000-9748200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr18:9746200-9748200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:9746600-9747800	Enhancers	Osteobl	bone
39	chr18:9746800-9747400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr18:9747000-9747400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:9747000-9748000	Weak transcription	Hela-S3	cervix
42	chr18:9747200-9747800	Enhancers	Colon Smooth Muscle	Colon
43	chr18:9747200-9749000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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