Variant report

Variant	rs7506835
Chromosome Location	chr18:12632394-12632395
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	chr18:12628218..12630866-chr18:12631795..12634195,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10853227	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11080591	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876191	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1785315	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1785316	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1785317	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3931007	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs477316	1.00[CEU][hapmap]
rs483005	1.00[CEU][hapmap]
rs497534	1.00[CEU][hapmap]
rs522631	1.00[CEU][hapmap]
rs546932	1.00[CEU][hapmap]
rs6505759	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7504254	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9960836	0.82[ASN][1000 genomes]
rs9967267	1.00[CEU][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv962958	chr18:12626598-12636297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
2	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
3	chr18:12607000-12640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
5	chr18:12616400-12640400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:12616400-12644800	Weak transcription	Brain Hippocampus Middle	brain
7	chr18:12616600-12645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:12621200-12645200	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:12622800-12645000	Weak transcription	Brain Angular Gyrus	brain
10	chr18:12624000-12637600	Weak transcription	Left Ventricle	heart
11	chr18:12625400-12640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:12626600-12640600	Weak transcription	Lung	lung
13	chr18:12629800-12638400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:12629800-12640400	Weak transcription	HSMMtube	muscle
15	chr18:12630000-12632800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:12630200-12632800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:12630400-12645400	Weak transcription	Ovary	ovary
18	chr18:12630800-12637600	Weak transcription	HMEC	breast
19	chr18:12630800-12637600	Weak transcription	NH-A	brain
20	chr18:12630800-12640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:12631000-12632800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:12631000-12637200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:12631000-12637400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:12631000-12637600	Weak transcription	HSMM	muscle
25	chr18:12631000-12638000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:12631000-12638600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr18:12631000-12640400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr18:12631000-12645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:12631000-12645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:12631200-12632800	Weak transcription	HUVEC	blood vessel
31	chr18:12631200-12633000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:12631200-12633200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:12631200-12633200	Weak transcription	NHEK	skin
34	chr18:12631200-12633600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr18:12631200-12636800	Weak transcription	Osteobl	bone
36	chr18:12631200-12637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:12631200-12637400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:12631200-12637800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr18:12631200-12640400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:12631200-12647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr18:12631400-12645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr18:12631800-12632400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:12632000-12632400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:12632000-12632600	Strong transcription	Fetal Stomach	stomach
45	chr18:12632200-12632600	Flanking Active TSS	K562	blood

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