Variant report

Variant	rs1596381
Chromosome Location	chr18:9598736-9598737
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	chr18:9593285..9595195-chr18:9598496..9600998,2	K562	blood:
2	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11081483	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12962253	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12970116	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12970514	0.85[JPT][hapmap]
rs2867167	0.91[CEU][hapmap]
rs4438368	0.88[EUR][1000 genomes]
rs6506676	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7233980	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8087795	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8093596	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9581400-9609200	Weak transcription	Pancreas	Pancrea
4	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:9589000-9608800	Weak transcription	Thymus	Thymus
6	chr18:9589000-9609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:9589000-9611000	Weak transcription	Lung	lung
8	chr18:9589200-9599200	Weak transcription	Fetal Kidney	kidney
9	chr18:9592400-9599400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:9592600-9599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr18:9593000-9598800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:9594000-9599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:9594200-9600400	Weak transcription	Placenta	Placenta
14	chr18:9594200-9600400	Weak transcription	Fetal Stomach	stomach
15	chr18:9594200-9600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:9594200-9609200	Weak transcription	Aorta	Aorta
17	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:9594400-9600000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr18:9594800-9600200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr18:9594800-9600400	Weak transcription	Fetal Thymus	thymus
21	chr18:9595200-9599600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:9595200-9612000	Weak transcription	Esophagus	oesophagus
23	chr18:9595400-9599400	Weak transcription	Brain Hippocampus Middle	brain
24	chr18:9595400-9601800	Weak transcription	Fetal Heart	heart
25	chr18:9595400-9608800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr18:9595600-9600600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:9595800-9599800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr18:9596000-9605800	Weak transcription	Hela-S3	cervix
29	chr18:9596000-9611000	Weak transcription	Gastric	stomach
30	chr18:9596600-9599200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:9597000-9599000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:9597000-9599200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:9597000-9600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:9597000-9601400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr18:9597000-9603200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:9597000-9608800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr18:9597200-9599000	Enhancers	K562	blood
38	chr18:9597200-9600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:9597200-9600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr18:9597200-9604200	Weak transcription	Left Ventricle	heart
41	chr18:9597200-9611000	Weak transcription	NH-A	brain
42	chr18:9597400-9600000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:9597400-9600400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:9597400-9600400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:9597400-9600600	Weak transcription	Stomach Mucosa	stomach
46	chr18:9597400-9604600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:9597400-9608000	Weak transcription	Osteobl	bone
48	chr18:9597400-9609200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr18:9597400-9613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr18:9597600-9599400	Weak transcription	HepG2	liver

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