Variant report

Variant	rs9972988
Chromosome Location	chr18:7932656-7932657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7928564..7930698-chr18:7930899..7932884,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1443601	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28714420	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60950392	1.00[EUR][1000 genomes]
rs73381829	0.86[EUR][1000 genomes]
rs73381838	0.86[EUR][1000 genomes]
rs73381856	1.00[EUR][1000 genomes]
rs73381865	1.00[EUR][1000 genomes]
rs73381875	1.00[EUR][1000 genomes]
rs73381880	1.00[EUR][1000 genomes]
rs8092268	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9949799	1.00[CEU][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9962439	1.00[CEU][hapmap]
rs9964734	1.00[CEU][hapmap];0.86[EUR][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	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	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7922400-7940600	Weak transcription	Gastric	stomach
2	chr18:7923000-7936200	Weak transcription	Thymus	Thymus
3	chr18:7923400-7937400	Weak transcription	Right Ventricle	heart
4	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:7923600-7937000	Weak transcription	Adipose Nuclei	Adipose
6	chr18:7923800-7936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:7924400-7940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:7925000-7933000	Weak transcription	Right Atrium	heart
9	chr18:7925000-7936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:7925800-7940400	Weak transcription	Fetal Muscle Leg	muscle
11	chr18:7926000-7936600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr18:7926200-7936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:7926400-7940200	Weak transcription	Brain Germinal Matrix	brain
14	chr18:7926400-7945200	Weak transcription	Ovary	ovary
15	chr18:7926800-7936600	Weak transcription	Fetal Stomach	stomach
16	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
18	chr18:7927400-7936400	Weak transcription	Aorta	Aorta
19	chr18:7927400-7939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:7927400-7940200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:7927800-7936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:7927800-7937400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
24	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:7928200-7937400	Weak transcription	Left Ventricle	heart
26	chr18:7929400-7935800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:7929600-7937000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:7930800-7933800	Enhancers	A549	lung
29	chr18:7932000-7946000	Weak transcription	Brain Anterior Caudate	brain
30	chr18:7932200-7936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:7932200-7961000	Weak transcription	HepG2	liver
32	chr18:7932400-7932800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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