Variant report

Variant	rs6973251
Chromosome Location	chr7:111824848-111824849
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111822498..111824897-chr7:111831797..111833312,2	MCF-7	breast:
2	chr7:111824683..111826311-chr7:111830229..111832204,2	K562	blood:
3	chr7:111822388..111825191-chr7:111842170..111844760,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1007587	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014725	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225540	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226613	1.00[ASN][1000 genomes]
rs10227934	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229525	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229822	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229978	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230608	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232364	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232380	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234035	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234996	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235364	0.87[EUR][1000 genomes]
rs10238838	0.87[EUR][1000 genomes]
rs10238839	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239076	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243086	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244575	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246054	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247540	1.00[ASN][1000 genomes]
rs10248735	1.00[ASN][1000 genomes]
rs10248923	0.87[EUR][1000 genomes]
rs10249330	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249953	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251712	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252768	0.87[EUR][1000 genomes]
rs10253360	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254160	1.00[ASN][1000 genomes]
rs10257492	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257831	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258413	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259763	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262723	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263624	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264118	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264797	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266828	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269074	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270151	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273461	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275709	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276062	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276695	0.87[EUR][1000 genomes]
rs10276868	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276907	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277444	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278528	0.87[EUR][1000 genomes]
rs10278642	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278883	1.00[ASN][1000 genomes]
rs10279631	1.00[ASN][1000 genomes]
rs10280408	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487289	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333548	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437769	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437855	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438058	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438257	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468233	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17159423	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159431	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159432	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159440	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159444	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159475	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159496	1.00[ASN][1000 genomes]
rs17159531	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159611	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989940	1.00[ASN][1000 genomes]
rs2040726	0.87[EUR][1000 genomes]
rs2214434	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396525	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396535	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729540	1.00[ASN][1000 genomes]
rs2729543	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2729545	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2729546	1.00[ASN][1000 genomes]
rs2729548	1.00[ASN][1000 genomes]
rs28402908	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28407071	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490504	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28516940	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563007	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566952	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594984	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602472	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654705	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28712358	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718033	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797808	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392819	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727767	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727768	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727769	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730514	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730515	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730521	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730523	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730525	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730526	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730527	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730528	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730530	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730531	1.00[ASN][1000 genomes]
rs4730534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730535	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730538	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771476	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58514081	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317474	1.00[ASN][1000 genomes]
rs60677549	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943924	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948649	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950339	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950367	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954131	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965959	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6975374	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977315	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977379	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726422	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424453	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783041	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886351	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886352	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986709	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111803000-111825400	Weak transcription	NHEK	skin
3	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
5	chr7:111817200-111826200	Enhancers	Brain Angular Gyrus	brain
6	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:111820600-111826000	Weak transcription	Gastric	stomach
8	chr7:111820800-111825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:111820800-111831200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:111821600-111826400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:111821600-111827600	Weak transcription	Fetal Brain Male	brain
12	chr7:111822000-111825800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:111822000-111826400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:111822400-111825400	Enhancers	HUVEC	blood vessel
15	chr7:111822800-111825800	Enhancers	Lung	lung
16	chr7:111822800-111826200	Enhancers	Right Atrium	heart
17	chr7:111822800-111826800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:111822800-111827600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:111823200-111825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:111823200-111825200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:111823200-111825800	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:111823200-111828000	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:111823200-111828400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:111823400-111825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:111823400-111825400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
28	chr7:111823600-111825000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:111823800-111825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:111823800-111825200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:111823800-111825800	Weak transcription	Fetal Heart	heart
32	chr7:111823800-111825800	Weak transcription	Placenta	Placenta
33	chr7:111823800-111826400	Enhancers	Left Ventricle	heart
34	chr7:111823800-111826400	Enhancers	Right Ventricle	heart
35	chr7:111824000-111826400	Enhancers	Psoas Muscle	Psoas
36	chr7:111824000-111827600	Weak transcription	Ovary	ovary
37	chr7:111824200-111825000	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr7:111824200-111825800	Weak transcription	Pancreas	Pancrea
39	chr7:111824200-111826200	Enhancers	Adipose Nuclei	Adipose
40	chr7:111824200-111826200	Enhancers	Colon Smooth Muscle	Colon
41	chr7:111824400-111825000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr7:111824600-111825000	Enhancers	Fetal Stomach	stomach
43	chr7:111824600-111825000	Weak transcription	HepG2	liver
44	chr7:111824600-111825400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:111824600-111826000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:111824600-111826600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:111824800-111825000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr7:111824800-111825800	Weak transcription	Liver	Liver

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