Variant report

Variant	rs1036930
Chromosome Location	chr18:9573318-9573319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9573228..9575142-chr18:9614750..9617698,2	MCF-7	breast:
2	chr18:9566461..9572065-chr18:9572620..9578759,7	K562	blood:
3	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
4	chr18:9571660..9575689-chr18:9612432..9614168,3	K562	blood:
5	chr18:9566461..9572540-chr18:9573224..9580743,8	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11081487	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12327541	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16955297	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869737	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869738	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1869739	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2028657	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840354	0.93[ASN][1000 genomes]
rs3786174	0.83[ASN][1000 genomes]
rs55841197	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56883068	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57539299	0.93[ASN][1000 genomes]
rs58800301	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58982927	0.93[ASN][1000 genomes]
rs59114729	0.83[ASN][1000 genomes]
rs59992205	0.83[ASN][1000 genomes]
rs60290408	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61166388	0.83[ASN][1000 genomes]
rs61275183	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086146	0.83[ASN][1000 genomes]
rs62086147	0.83[ASN][1000 genomes]
rs62086151	0.83[ASN][1000 genomes]
rs62086152	0.83[ASN][1000 genomes]
rs62086155	0.83[ASN][1000 genomes]
rs62086156	0.83[ASN][1000 genomes]
rs62086158	0.83[ASN][1000 genomes]
rs62086159	0.83[ASN][1000 genomes]
rs62087363	0.83[ASN][1000 genomes]
rs62087368	0.83[ASN][1000 genomes]
rs62087370	0.83[ASN][1000 genomes]
rs62087371	0.83[ASN][1000 genomes]
rs62087378	0.83[ASN][1000 genomes]
rs62087402	0.83[ASN][1000 genomes]
rs62087403	0.83[ASN][1000 genomes]
rs62087404	0.83[ASN][1000 genomes]
rs62087406	0.83[ASN][1000 genomes]
rs62087407	0.83[ASN][1000 genomes]
rs62087411	0.83[ASN][1000 genomes]
rs62087412	0.83[ASN][1000 genomes]
rs62087414	0.83[ASN][1000 genomes]
rs62087415	0.83[ASN][1000 genomes]
rs62087416	0.83[ASN][1000 genomes]
rs62087417	0.80[ASN][1000 genomes]
rs62087427	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62087456	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088870	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088872	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088873	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088875	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088876	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088880	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088881	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088884	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088885	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088904	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088906	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088908	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6506677	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228280	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7231531	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7233308	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233649	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7234355	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235935	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7236274	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7237018	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7238137	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7239083	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72945737	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs732698	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73393880	0.83[ASN][1000 genomes]
rs73395717	0.83[ASN][1000 genomes]
rs73395719	0.83[ASN][1000 genomes]
rs8096551	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894757	0.83[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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking 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	28 gene(s)	inside rSNPs	diseases
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr18:9545800-9595200	Strong transcription	Dnd41	blood
4	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
5	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr18:9553000-9573600	Strong transcription	NHDF-Ad	bronchial
7	chr18:9553200-9575800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:9553800-9574600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:9554000-9574000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:9554000-9574200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:9554000-9576000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:9554400-9578400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:9557800-9575800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
19	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:9560200-9575200	Weak transcription	Stomach Mucosa	stomach
22	chr18:9560200-9577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9560400-9577600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:9561000-9575800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:9562000-9574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
28	chr18:9563600-9574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr18:9563600-9577400	Weak transcription	Spleen	Spleen
30	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
32	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr18:9563800-9575400	Weak transcription	Brain Angular Gyrus	brain
34	chr18:9564200-9579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr18:9565000-9575000	Strong transcription	Hela-S3	cervix
36	chr18:9565000-9576000	Weak transcription	Right Atrium	heart
37	chr18:9565000-9579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr18:9565200-9575800	Strong transcription	Osteobl	bone
39	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:9565600-9578000	Strong transcription	Placenta	Placenta
41	chr18:9566200-9575400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:9566200-9575800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr18:9566400-9577600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:9566600-9575800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:9566600-9577000	Strong transcription	HMEC	breast
46	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr18:9566800-9594600	Strong transcription	HSMM	muscle
48	chr18:9567000-9575200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:9567000-9576400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr18:9567200-9574400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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