Variant report

Variant	rs12537698
Chromosome Location	chr7:65824287-65824288
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	chr7:65819420..65821151-chr7:65824065..65825748,2	MCF-7	breast:

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs12530506	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12530546	0.97[EUR][1000 genomes]
rs12530746	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12530947	1.00[EUR][1000 genomes]
rs12531900	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532060	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532173	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532182	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532247	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532278	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532657	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532675	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12533387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533744	0.89[EUR][1000 genomes]
rs12533877	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12534039	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534109	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12534249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12534263	0.97[EUR][1000 genomes]
rs12534477	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12534881	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12534985	1.00[EUR][1000 genomes]
rs12535985	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12536816	0.89[EUR][1000 genomes]
rs12536818	1.00[EUR][1000 genomes]
rs12537037	1.00[EUR][1000 genomes]
rs12537039	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12537368	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537936	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12538011	0.97[EUR][1000 genomes]
rs12538025	1.00[AFR][1000 genomes]
rs12538113	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538147	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12538379	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538611	0.81[ASN][1000 genomes]
rs12538686	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12538961	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12539749	1.00[EUR][1000 genomes]
rs12539795	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540667	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540888	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1363056	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228285	0.97[EUR][1000 genomes]
rs2075004	1.00[EUR][1000 genomes]
rs2292936	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2292937	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35910256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735145	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735146	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735150	1.00[EUR][1000 genomes]
rs3814466	1.00[EUR][1000 genomes]
rs3815684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4149467	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4717291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4717301	1.00[EUR][1000 genomes]
rs4718342	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718345	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718347	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718350	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718353	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718354	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718368	1.00[EUR][1000 genomes]
rs4718372	0.97[EUR][1000 genomes]
rs62465362	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465363	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465364	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465365	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465367	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465376	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465377	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465380	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465389	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465390	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465391	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465392	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62465394	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465395	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465396	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465397	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465399	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465400	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465401	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62465402	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465403	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465404	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62465405	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465422	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465424	1.00[EUR][1000 genomes]
rs62465425	1.00[EUR][1000 genomes]
rs62465426	0.97[EUR][1000 genomes]
rs62465427	0.81[EUR][1000 genomes]
rs62465428	1.00[EUR][1000 genomes]
rs62465429	1.00[EUR][1000 genomes]
rs62465431	1.00[EUR][1000 genomes]
rs62465432	0.97[EUR][1000 genomes]
rs62465433	0.95[EUR][1000 genomes]
rs62465436	0.84[EUR][1000 genomes]
rs62465457	1.00[EUR][1000 genomes]
rs62465458	1.00[EUR][1000 genomes]
rs62465474	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62465475	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62465476	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62465483	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62465484	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465512	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465513	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465515	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465519	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465521	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465522	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465525	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465526	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465527	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465542	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62465545	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62465546	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62465547	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62465550	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62465552	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62465554	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467450	1.00[AFR][1000 genomes]
rs62467760	0.97[EUR][1000 genomes]
rs62467762	1.00[EUR][1000 genomes]
rs62467763	1.00[EUR][1000 genomes]
rs62467764	1.00[EUR][1000 genomes]
rs62467765	1.00[EUR][1000 genomes]
rs62467766	1.00[EUR][1000 genomes]
rs62467767	0.92[EUR][1000 genomes]
rs62467768	0.95[EUR][1000 genomes]
rs62467769	1.00[EUR][1000 genomes]
rs62467770	1.00[EUR][1000 genomes]
rs62467771	0.97[EUR][1000 genomes]
rs62468669	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468673	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468674	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468677	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468679	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468696	1.00[EUR][1000 genomes]
rs62468699	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62468700	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62468702	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468707	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468709	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62468710	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62468711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468712	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65805200-65843600	Weak transcription	Aorta	Aorta
2	chr7:65814000-65843800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:65815000-65824600	Weak transcription	Lung	lung
4	chr7:65817000-65843400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:65817200-65824400	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:65817400-65824600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:65817400-65825400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:65817400-65842600	Weak transcription	Gastric	stomach
9	chr7:65817600-65824600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:65817600-65826600	Weak transcription	Left Ventricle	heart
11	chr7:65817600-65828800	Weak transcription	Ovary	ovary
12	chr7:65817600-65842800	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:65817600-65843200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:65817600-65844200	Weak transcription	Right Atrium	heart
15	chr7:65817600-65844600	Weak transcription	Fetal Brain Female	brain
16	chr7:65818000-65843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:65819200-65844200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:65819800-65826400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:65821200-65825200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:65821400-65824400	Weak transcription	Placenta	Placenta
21	chr7:65821400-65825600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:65821600-65825600	Weak transcription	HSMMtube	muscle
23	chr7:65821800-65824600	Weak transcription	NHDF-Ad	bronchial
24	chr7:65821800-65826000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:65822000-65831800	Weak transcription	HSMM	muscle
26	chr7:65822000-65843800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:65822200-65828800	Weak transcription	Osteobl	bone
28	chr7:65822400-65831400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:65822400-65831400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:65822600-65824600	Weak transcription	NHLF	lung
31	chr7:65822600-65827400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:65822800-65824400	Weak transcription	HepG2	liver
33	chr7:65822800-65824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:65822800-65824600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:65822800-65839200	Weak transcription	Fetal Intestine Small	intestine
36	chr7:65822800-65841200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:65823200-65824400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:65823400-65825000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:65823400-65825400	Flanking Active TSS	HMEC	breast
40	chr7:65823400-65826400	Strong transcription	Liver	Liver
41	chr7:65823400-65843600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:65823600-65824600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:65823600-65824600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:65823600-65826200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:65823800-65824400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:65823800-65824400	Transcr. at gene 5' and 3'	NHEK	skin
47	chr7:65823800-65824600	Strong transcription	Fetal Stomach	stomach
48	chr7:65823800-65824800	Enhancers	Esophagus	oesophagus
49	chr7:65823800-65825200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:65823800-65825200	Strong transcription	Spleen	Spleen

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