Variant report

Variant	rs72959354
Chromosome Location	chr18:9813577-9813578
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	chr18:9812195..9813835-chr18:9821275..9823784,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10048278	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11875078	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12958417	0.84[AMR][1000 genomes]
rs34797558	1.00[ASN][1000 genomes]
rs35024660	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35732254	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62081240	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3372565	chr18:9813252-9818150	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9805600-9814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr18:9807400-9814000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:9809200-9817200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9809200-9824800	Weak transcription	Lung	lung
13	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
14	chr18:9809400-9815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9809400-9816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:9809400-9816000	Weak transcription	Placenta	Placenta
17	chr18:9809400-9816000	Weak transcription	NHEK	skin
18	chr18:9809400-9816600	Weak transcription	Fetal Lung	lung
19	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:9809600-9824400	Weak transcription	HMEC	breast
21	chr18:9810000-9814000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:9810000-9817600	Weak transcription	Right Ventricle	heart
23	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
24	chr18:9810200-9814000	Weak transcription	HepG2	liver
25	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:9810200-9824000	Weak transcription	Ovary	ovary
27	chr18:9810400-9814000	Weak transcription	A549	lung
28	chr18:9810400-9814200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:9810600-9813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:9810600-9813800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
32	chr18:9810800-9813600	Weak transcription	Osteobl	bone
33	chr18:9810800-9814000	Weak transcription	NH-A	brain
34	chr18:9810800-9814000	Weak transcription	NHLF	lung
35	chr18:9810800-9814200	Weak transcription	Fetal Kidney	kidney
36	chr18:9810800-9814200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:9810800-9814200	Weak transcription	HUVEC	blood vessel
38	chr18:9810800-9816000	Weak transcription	Adipose Nuclei	Adipose
39	chr18:9810800-9816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
42	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr18:9811000-9814000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:9811000-9815800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:9811000-9815800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:9811000-9816800	Weak transcription	Brain Anterior Caudate	brain
47	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
48	chr18:9811200-9817800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr18:9811400-9814000	Weak transcription	HSMM	muscle
50	chr18:9811400-9814200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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