Variant report

Variant	rs9962525
Chromosome Location	chr18:8383516-8383517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8383086..8385135-chr18:8394319..8396529,2	K562	blood:
2	chr18:8376327..8379347-chr18:8381176..8383622,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28580336	1.00[AMR][1000 genomes]
rs28639718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55909373	1.00[AMR][1000 genomes]
rs7240861	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939467	1.00[AMR][1000 genomes]
rs73939468	1.00[AMR][1000 genomes]
rs73939469	1.00[AMR][1000 genomes]
rs8098506	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9948335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9950404	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9959014	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9960037	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
2	chr18:8367800-8385400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:8367800-8398600	Weak transcription	NHLF	lung
4	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:8369000-8388000	Weak transcription	Fetal Heart	heart
7	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:8373400-8394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:8374000-8384400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr18:8376000-8389600	Weak transcription	Fetal Kidney	kidney
13	chr18:8376000-8397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr18:8377200-8397200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:8377400-8394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr18:8377600-8386800	Weak transcription	NHDF-Ad	bronchial
17	chr18:8378600-8398600	Weak transcription	Hela-S3	cervix
18	chr18:8378800-8384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:8378800-8396600	Weak transcription	HMEC	breast
20	chr18:8378800-8397000	Weak transcription	NHEK	skin
21	chr18:8379000-8411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:8379200-8384600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr18:8379200-8384800	Weak transcription	Placenta	Placenta
24	chr18:8379200-8396000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:8379200-8396800	Weak transcription	Primary T cells from cord blood	blood
26	chr18:8379400-8385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:8379400-8387000	Weak transcription	Fetal Intestine Small	intestine
28	chr18:8379400-8387800	Weak transcription	Fetal Brain Female	brain
29	chr18:8379400-8394200	Strong transcription	Adipose Nuclei	Adipose
30	chr18:8379600-8384200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:8379600-8407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:8379800-8410800	Weak transcription	Psoas Muscle	Psoas
33	chr18:8380000-8383800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr18:8380000-8394200	Weak transcription	Colon Smooth Muscle	Colon
35	chr18:8380400-8384400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:8380600-8383800	Weak transcription	Fetal Intestine Large	intestine
37	chr18:8380600-8384600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr18:8380800-8384200	Weak transcription	Spleen	Spleen
39	chr18:8380800-8384400	Weak transcription	Fetal Lung	lung
40	chr18:8380800-8384400	Weak transcription	A549	lung
41	chr18:8381000-8383600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr18:8381000-8383600	Weak transcription	Fetal Stomach	stomach
43	chr18:8381000-8383600	Weak transcription	Fetal Thymus	thymus
44	chr18:8381000-8383600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:8381000-8383800	Weak transcription	Pancreas	Pancrea
46	chr18:8381000-8383800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr18:8381000-8383800	Weak transcription	Thymus	Thymus
48	chr18:8381000-8384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:8381000-8384000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr18:8381000-8384200	Weak transcription	Right Ventricle	heart

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